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Hypotonia

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the decreased resistance of movement during passive stretching of muscles.

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Weakness

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decreased or less than normal force generated by active contraction of muscles.

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Classification of Hypotonia

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Cenral vs Peripheral

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Central Hypotonia

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dysfunction ofupper motor neurons(i.e., cortical pyramidal neurons and their descending corticospinal pathways).

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Peripheral Hypotonia

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dysfunction of lower motor neurons(i.e., spinal motor neurons and distally to the muscle fibers).

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Risk factors for peripheral hypotonia:

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1) Decreased fetal movements 2) Breech Presentation

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Risk factors for central hypotonia:

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Seizures in the neonatal period

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Frog leg posture

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Externally rotated and flexed hips

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PE findings of hypotonia:

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weak cry, decreased spontaneous movement, a frog-leg posture and muscle contractures. *** infant will slip through your hands when liftend up from under axillae

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Clinical features in central hypotonia:

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altered level of consciousness and increased deep tendon reflexes (DTRs), often with ankle clonus.

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Clinical features in peripheral hypotonia

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consciousness is unaffected, but muscle bulk and DTRs are decreased.

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Etiology of hypotonia

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Systemic including sepsis, encepalaopathy and electrolyte abormalities or Neural Pathology

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When evaluating hypotonia you must first rule out:

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Sepsis, Meningitis & Acute Metabolic Disorder

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Evaluation of Central Hypotonia:

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a. Head computed tomography (CT) scan to rule out acute central nervous system (CNS) injury or congenital malformation b. Serum electrolytes, calcium and magnesium levels, and ammonia, lactate, and pyruvate levels to rule out metabolic disorders c. High-resolution chromosome studies and fluorescent in situ hybridization (FISH) tests for suspected genetic disorders (e.g., Prader-Willi syndrome)

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Evaluation of peripheral hypotonia:

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a. Serum creatine kinase (CK) levels b. DNA tests for spinal muscular atrophy (see section F.1) c. Electromyography (EMG).Nerve conduction studies are crucial to identify myasthenic disorders. d. Muscle biopsy

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Spinal Muscular Atrophy (SMA)

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anterior horn cell degeneration that presents with hypotonia, weakness, and tongue fasciculations.

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Epidemiology of SMA:

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second most common hereditary neuromuscular disorder after Duchenne muscular dystrophy.

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Classification of SMA:

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1. Type 1 or infantile form with onset 3 years of age

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Etiology of SMA

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AR inherited mutation of survival motor neuron gene 1 on chromosome 5

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Pathology of SMA

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Degeneration and loss of anterior horn motor neurons with infiltration of mcroglia and astrocytes

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Clinical features of SMA

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1. Weak cry, tongue fasciculations, and difficulty sucking and swallowing 2. Bell-shaped chest 3. Frog-leg posture when in supine position, generalized hypotonia, weakness, and areflexia 4. Normal extraocular movements andnormal sensory examination

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Diagnosis of SMA

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1. DNA testing for the abnormal gene is diagnostic in >90% of cases. 2. Muscle biopsy shows a characteristic atrophy of groups of muscle fibers that were innervated by the damaged axons.

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Management of SMA:

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1) Gastrostomy tube feeding to ensure proper nutrition 2) Treating and preventing respiratory infections. This is the mCC of death ( < 1 yoa) 3) Physical therapy to prevent contractures and decreased range of motion

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Infantile botulism

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bulbar weakness and paralysis that develops in infants during the first year of life secondary to ingestion ofClostridium botulinumspores and absorption of botulinum toxin.

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Etiology of infantile botulism

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The source of the botulinum toxin is infected foods, such as contaminated honey, or spores unearthed from the ground. The toxin prevents the presynaptic release of acetylcholine.

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Clinical features of infantile botulism:

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1. Onset of symptoms occurs 12-48 hours after ingestion of spores. 2. Constipation is the classic first symptom of botulism. 3. Neurologic symptoms follow, including weak cry and suck, loss of previously obtained motor milestones, ophthalmoplegia, and hyporeflexia. 4. Paralysis is symmetric and descending, and, at times, diaphragmatic paralysis may occur.

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Diagnosis of infantile botulism

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1) Identification of the toxin/bacteria in stool 2) EMG: brief, small-amplitude muscle potentials ith an incremental response during high frequency stimulation

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Management of infantile botulism:

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Treatment is supportive with nasogastric feeding and assisted ventilation as needed. 1. Botulism immune globulin improves the clinical course.( Passive immunity) 2. Antibiotics are contraindicated and may worsen the clinical course.

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Myotonia

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inability to relax contracted muscles

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Congenital Myotonic Dystrophy (CMD)

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autosomal dominant, trinucleotide repeat muscle disorder that presents in the newborn period with weakness and hypotonia.

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How is CMD inherited?

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AS inheritance with variable penetrance due to mutation on chromosome 19. Transmission is through affected mother

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Clinical features of CMD:

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1. Antenatal history may reveal polyhydramnios caused by poor swallowing in utero and decreased fetal movements. 2. Neonatal history is often significant for feeding and respiratory problems. 3. Physical examination of the neonate is notable for facial diplegia (bilateral weakness), hypotonia, areflexia, and arthrogryposis (multiple joint contractures). 4. Myotonia is not present in the newborn, but develops later, almost always by 5 years of age. 5. In adulthood, typical myotonic features include myotonic facies (atrophy of masseter and temporalis muscles), ptosis, a stiff, straight smile, and an inability to release the grip after handshaking (myotonia). 6. Additional problems include mental retardation, cataracts, cardiac arrhythmias, and infertility.

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Diagnosis of CMD:

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1) Examine child AND MOTHER for features of CMD 2) DNA testing to identify gene EMG no longer indicated

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Management of CMD:

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Ventilation and Gastrostomy tube feedings

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Hydrocephalus

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increased cerebrospinal fluid (CSF) under pressure within the ventricles of the brain. Hydrocephalus results from blockage of CSF flow, decreased CSF absorption, or, rarely, increased CSF production

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Types of Hydrocephalus

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1. Noncommunicating hydrocephalus refers to enlarged ventricles caused by obstruction of CSF flow through the ventricular system (e.g., aqueductal stenosis). 2. Communicating hydrocephalus refers to enlarged ventricles as a result of increased production of CSF (e.g., tumors) or decreased absorption of CSF (e.g., bacterial meningitis). 3. Hydrocephalus ex vacuo is not true hydrocephalus, but rather a term used to describe ventricular enlargement caused by brain atrophy.

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COngenital causes of Hydrocephalus include:

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1) Chiari Type II Malformation 2) Dandy Walker Malformation 3) Congenital Aqueductal Stenosis

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Chiari Type II Malformation

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characterized by downward displacement of the cerebellum and medulla through the foramen magnum, blocking CSF flow. This malformation is often associated with a lumbosacral myelomeningocele.

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Dandy Walker Malformation

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combination of an absent or hypoplastic cerebellar vermis and cystic enlargement of the fourth ventricle, which blocks the flow of CSF.

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Congenital Aqueductal Stenosis

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(some cases of aqueductal stenosis are inherited as an X-linked trait and these patients may have thumb abnormalities and other CNS anomalies such as spina bifida)

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Acquired causes of hydrocephalus include:

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IV hemorrhage Bacterial Meningitis Brain Tumors

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Clinical features of Hydrocephalus

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1 ) Head circumference >97% 2) Large anterior and posterior fontanelles and split sutures 3) Sunset Sign

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Sunset Sign

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a tonic downward deviation of both eyes caused by pressure from the enlarged third ventricles on the upward gaze center in the midbrain

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Signs and symptoms of increased intracranial P

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a. Headache b. Nausea and vomiting c. Unilateral sixth nerve palsy d. Papilledema e. Brisk DTRs but with a usually downward plantar response.

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Evaluation of Hydrocephalus

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Urgent Head CT scan

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Management of HYdrocephalus

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surgical placement of aventriculoperitoneal shunt to divert the flow of CSF

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Complications of ventriculoperitoneal shunts

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Shunt Infection & Shunt Obstruction

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Prognosis of Hydrocephalus

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Patients with aqueductal stenosis have the best cognitive outcome. 2. Patients with Chiari type II malformation may have low-normal intelligence and language disorders. 3. Patients with X-linked hydrocephalus may have severe mental retardation.

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Spina Bifida

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general term that refers to any failure of bone fusion in the posterior midline of the vertebral column.

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Epidemiology of Spina Bifida

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Incidence of neural tube defects varies with geographic location. The highest incidence is in Ireland (1 in 250 live births), and thelowest is in Japan (1 in 3, 000 live births).

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How is spina bifida prevented?

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Folic acid decreases the incidence but the exact mechanism is unknown

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Management of Myelomingocele

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Myelomeningocele requires urgent surgical repair within 24 hours of birth to reduce the morbidity and mortality from infection and to prevent further trauma to the exposed neural tissue.

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Prognosis of Myelomeningocele

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Ninety percent of patients survive to adolescence, but many are handicapped. Associated problems include wheelchair dependency, bladder or bowel incontinence, mental retardation, seizures, precocious puberty, pressure sores, and fractures.

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Coma

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a state of unawareness of self and environment in which the patient lies with the eyes closed and is unarousable by external stimuli.

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Etiology of coma in kids < 5 yoa

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nonaccidental trauma and near-drowning are the most common causes of coma.

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Etiology of coma in older kids:

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drug overdose and accidental head injury are the most common causes of coma.

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What do we use to measure and monitor the level of consciousness?

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Glasgow Coma Scale

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CSF or blood draining from nose/ ear canal may indicate

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Basilar Skull Fracture

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Abnormal motor responses to stimuli can indicate

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Location of Brain Damage

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Decerebrate posturing (extension of arms and legs)indicates

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Subcortical Injury

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Decorticate posturing (flexion of arms and extension of legs)suggests

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Bilateral cortical injury

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Asymmetric responses suggest

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hemispheric injury.

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Hypoventilation suggests

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opiate or sedative overdose.

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Hyperventilation suggests:

answer

1) Metabolic Acidosis: Kussmaul respirations, rapid deep breathing 2) Neurogenic pumonary edema 3) Midbrain i njury

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Cheyne-Stokes breathing

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alternating apneas and hyperpneas

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Cheyne-Stokes breathing suggests

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bilateral cortical injury.

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Apneustic breathing

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pausing at full inspiration

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Apneustic breathing indicates

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Pontine Breathing

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Ataxic or agonal breathing

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irregular respirations with no particular pattern

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Ataxic or agonal breathing

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medullary injury and impending brain death.

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Unilateral dilated nonreactive pupil suggests

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Uncal Herniation

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Bilateral dilated nonreactive pupils suggest

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1) Topical application of a dilating agent 2) Postictal state 3) Irreversible brainstem injury

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Bilateral constricted reactive pupils suggest

answer

opiate ingestion or pontine injury.

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Oculocephalic maneuver (doll's eyes)

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When turning the head of an unconscious patient, the eyes normally look straight ahead and then slowly drift back to midline position because the intact vestibular apparatus senses a change in position. In an injured brainstem, movement of the head does not evoke any eye movement. This is termed a negative oculocephalic maneuver or negative doll's eyes.

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Caloric Irrigation

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When the oculocephalic response is negative or cannot be performed because of possible cervical cord injury, caloric testing should be performed. This involves angling the head at 30° and irrigating each auditory canal with 10-30 mL of ice water. An intact (normal) cold caloric response is reflected by eye deviation to the irrigated side. An abnormal response suggests pontine injury.

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Abnormal corneal and gag reflexes indicate

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signifcant brain stem i njury

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Evauation of a Comatose Patient

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Glucose should be checked immediately in any comatose patient. 2. Urine toxicology screen, serum electrolytes, and metabolic panel should also be evaluated. 3. Head CT scan should be performed to identify mass lesions or trauma. 4. Lumbar puncture to rule out meningoencephalitis should be considered if the CT scan is negative. 5. Urgent electroencephalography (EEG) should be considered, even in patients without a history of clinical seizures.

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Seizure

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transient, involuntary alteration of consciousness, behavior, motor activity, sensation, or autonomic function caused by an excessive discharge from a population of cerebral neurons.

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Epilepsy

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occurrence of two or more spontaneous seizures without an obvious precipitating cause.

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Status epilepticus

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seizure that lasts > 30 minutes during which the patient does not regain consciousness.

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Epidemiology of Seizures

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Four to six percent of children have a single afebrile seizure before 16 years of age. Fewer than one third of children who have a single seizure go on to develop epilepsy, which has an incidence of 0.5-0.8% during childhood.

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Etiology of seizures

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In 60-70% of cases, the cause is unknown. The seizure discharge is caused by an imbalance between excitatory and inhibitory input within the brain or abnormalities in the membrane properties of individual neurons.

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Classification of Seizures

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1) Generalised Seizures: Tonic Clonic Seizures & Absence Seizures 2) PartialFocal Seizures

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Tonic Clonic Seizures

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characterized by increased thoracic and abdominal muscle tone, followed by clonic movements of the arms and legs, eyes rolling upward, incontinence, decreased consciousness, and a postictal state of variable duration.

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Absence Seizures

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brief staring spells that occur without loss of posture and with only minor motor manifestations (e.g., eye blinking or mouthing movements). The seizure lasts < 15 seconds, and there is no postictal state.

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Partial Focal Seizures are caused by:

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discharge from a group of neurons in one hemisphere. Seizure symptoms may have predominately motor, sensory, or psychomotor features.

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Types of partial (focal) Seizures :

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Simple Partial Seizures and Complex Partial Seizures

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Simple partial seizures vs Complex partial seizures

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1. In simple partial seizures, consciousness is not impaired. 2. In complex partial seizures, consciousness is decreased.

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Is an EEG required for epilepsy ?

answer

EEG identifies the focus and particular pattern of the epileptic discharge. However, an abnormal EEG is not required for the diagnosis of epilepsy (i.e., a normal EEG does not exclude the diagnosis of seizures or epilepsy). 2. Video-EEG monitoring is a useful tool when clinical information is inadequate or incomplete(e.g., when patients are < 3 years of age, when seizurelike events occur during sleep, or when parents are poor historians).

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Differential Diagnoses of Seizure like Events

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Breath-holding spells (in infants) Gastroesophageal reflux disease (Sandifer syndrome) Syncope Migraine Vertigo Movement disorder (e.g., tics, chorea) Sleep disturbances (e.g., night terrors, somnambulism) Transient ischemic attack Rage attacks Psychogenic seizures

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What imaging studies are helpful for epilepsy ?

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Neuroimaging studies should be performed in all children with epilepsy, except those with absence seizures or benign rolandic epilepsy

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Benign Rolandic Epilepsy

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Benign Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epilepsy syndrome in childhood. Most children will outgrow the syndrome (it starts around the age of 3-13 with a peak around 8-9 years and stops around age 14-18), hence the label benign.

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Evaluation of a first time afebrile seizure patient

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A first-time afebrile seizure in an otherwise healthy child with a normal neurologic examination does not warrant further investigation.

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Evaluation of a patient with previous afebrile seizures:

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Serum electrolytes and neuroimaging should be performed in a child who has had prior afebrile seizures.

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Evaluation of a febrile patient

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1) Rule out CNS infection by examination of CSF 2) CBC 3) Chest Radiograph 4) Urine & Blood Clultures

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Management of Status Epilepticus

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Treatment of status epilepticus requires intravenous anticonvulsants, such as a short-acting benzodiazepine (e.g., lorazepam or diazepam) followed by a loading dose of either phenobarbital or phenytoin.

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Pharmacological approach to Epilepsy

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Once the type of seizure has been determined, single-drug therapy is started with the antiepileptic drug that has the best combination of high efficacy and low toxicity.

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Recommended therapy for Generalised Epilepsy

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valproic acid or phenobarbital

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Recommended therapy for absence epilepsy

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Ethosuximide

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Recommended therapy for partial epilepsy

answer

carbamazepine or phenytoin

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Recommended treatment for medically intractable epilepsy

answer

surgery to remove epileptic tissue may be an option. ***The best prognosis is for patients with temporal lobe lesions, 75% of whom have complete seizure control or remission after surgery.***

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Alternative treatments for poorly controlled seizures in patients for whom surgery is not an option:

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1. Vagal nerve stimulator is a pacemaker-sized device that sends an electrical impulse to the vagus nerve. A common side effect is hoarseness. 2. Ketogenic diet (a high-fat, low-carbohydrate diet) is thought to suppress seizure activity by producing a state of ketosis.

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Prognosis of Epilepsy:

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Epilepsy is not a lifelong disorder. About 70% of epileptic children can be weaned off their medications after a 2-year seizure-free period and normalization of the EEG.

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Febrile Seizure

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any seizure that is accompanied by a fever owing to a non-CNS cause in patients from 6 months to 6 years of age.

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Etiology of febrile seizures

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a. The pathophysiologic mechanism is unknown. b. Febrile seizures can be inherited, and several gene mutations have been found.

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Simple febrile seizure vs. complex febrile seizure

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a. A simple febrile seizure lasts less than 15 minutes and is generalized. b. A complex febrile seizure lasts more than 15 minutes, has focal features, or recurs within 24 hours.

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What MUST be included in the criteria to diagnose febrile seizure?

answer

Exclusion of any CNS infection

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When should a lumbar puncture be performed in febrile seizure?

answer

A lumbar puncture is necessary only if meningitis is suspected.

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Imaging studies for febrile seizures

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Neither neuroimaging nor EEG is needed unless the neurologic examination is abnormal.

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Management of patient who has previous history of febrile seizure

answer

Aggressive antipyretic treatment of subsequent febrile illnesses may help prevent febrile seizures.

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Management of patients with frequent, recurrent febrile seizures

answer

1. Daily anticonvulsant prophylaxis with valproic acid or phenobarbital 2. Abortive treatment with rectal diazepam

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Recurrence risk for epilepsy decreases with :

answer

increasing age

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Epileptic Syndromes

answer

epileptic conditions characterized by a specific age of onset, seizure characteristic, and EEG abnormality.

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Classification of Epipleptic Syndromes:

answer

More than 15 epileptic syndromes are recognized. Each syndrome has its own seizure severity and outcome.

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The most common types of epilepsy are:

answer

1) Infantile Spasms 2) Absence Epilepsy of Childhood 3) Benign Rolandic Epilepsy

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Age of onset of epipletic syndrome

answer

Age of onset is typically 3-8 months. Infantile spasms are rare in children older than 2 years of age.

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The most commonly identifed cause of inflantile spasms is:

answer

Tuberous Sclerosis

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Inherited/Acquired causes of infantile spasms:

answer

1)Phenylketonuria 2) Hypoxic ischemic injury 3) Intraventricular Hemorrhage 4) Meningitis 5) Encephalits

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Clinical features of infantile spasms:

answer

1. Brief, myoclonic jerks, lasting 1-2 seconds each, occurring in clusters of 5-10 seizures spread over 3-5 minutes. 2. The jerks consist of sudden arm extension or head and trunk flexion (also known as jackknife seizures or salaam seizures).

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Diagnosis of infantile spasm

answer

The EEG shows the characteristic hypsarrhythmia pattern, a highly disorganized pattern of high amplitude spike and waves occurring in both cerebral hemispheres.

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Management of infantile spasm

answer

1. Adrenocorticotropic hormone (ACTH) intramuscular injections for a 4- to 6- week period are effective in more than 70% of affected patients. 2. Valproic acid is the second-line drug of choice. 3. Vigabatrin is the most effective drug for patients with infantile spasms associated with tuberous sclerosis.

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Prognosis of Infantile Spasms:

answer

Outlook is poor. Despite the success of these different medications in suppressing seizures, children often develop moderate to severe mental retardation.

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Epidemiology of Absence Epilepsy of Childhood

answer

Age of onset is between 5 and 9 years of age. There is a female-tomale predominance of 3:2.

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Etiology for absence seizures

answer

Inheritance is autosomal dominant with age-dependent penetrance.

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Clinical Features of absence seizures

answer

1. Absence seizures last 5-10 seconds. 2. They occur frequently—tens to hundreds of times per day. 3. They are often accompanied by automatisms, such as eye blinking and incomprehensible utterances. 4. Loss of posture, urinary incontinence, and a postictal state do not occur. COMORBIDITY: ADHD &/or Anxiety PMHx of Febrile Seizures is possible

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Diagnosis of absence Seizures

answer

The EEG shows the characteristic generalized 3-Hz spike and wave discharge arising from both hemispheres.

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Management of Absence Seizures

answer

Treatment includes ethosuximide (first-line drug) or valproic acid.

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Benign Rolandic Epilepsy is also called

answer

Benign Centrotemporal Epilepsy

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Benign rolandic epilepsy involves:

answer

nocturnal partial seizures with secondary generalization.

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Epidemiology of Benign Rolandic Seizures

answer

1. Benign rolandic epilepsy is the most common partial epilepsy during childhood, accounting for 15% of epilepsy. 2. It commonly presents at 3-13 years of age. Peak incidence is at 6-7 years. Boys are more likely to be affected.

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Etiology of benign rolandic seizures

answer

Inheritance is autosomal dominant with variable penetrance.

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Clinical features of benign rolandic seizures:

answer

1. Seizures occur in the early morning hours when patients are asleep with oralbuccal manifestations (i.e., moaning, grunting, pooling of saliva). 2. Seizures spread to face and arm, then generalize into tonic-clonic seizures.

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Diagnosis of Benign rolandic Seizures

answer

The EEG shows biphasic spike and sharp wave disturbance in the midtemporal and central regions.

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Treatment of benign rolandic seizures

answer

Treatment includes valproic acid (first-line drug) or carbamazepine. Prognosis is excellent

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Ataxia

answer

inability to coordinate muscle activity during voluntary movement. It can involve the trunk or limbs and is caused by cerebellar or proprioceptive dysfunction.

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Causes of unsteady gait:

answer

1) Cerebellar dysfunction 2) Weakness: ex. Guillan Barre 3)Encephalopathy as a result of infection, drug overdose or recent head trauma 4) Seizures 5) Vision problems can mimic the appearance of an unsteady gait 6) Vertigo from migraines, acute labrynthitis and brain stem tumors

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Brain tumors that cause cerebellar ataxia

answer

1) Cerebellar astrocytoma 2) Medulloblastoma/ Cerebella primitive neuroectodermal tumor 3) Neuroblastoma

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Traumatic causes of cerebellar ataxia

answer

Cerebellar contusion & Subdural Hematoma

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Toxins that cause cerebellar ataxia

answer

Ethanol & anticonculsants

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Vascular causes of cerebellar ataxia

answer

Cerebellar infarction or hemorrhage

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Infectious causes of cerebellar ataxia

answer

Meningitis & Encephalitis

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Inflammatory causes of cerebellar ataxia

answer

Acute cerebellar ataxia of childhood

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Demyelinating causes of Cerebellar Ataxia

answer

Acute disseminated wncephalomyelitis 7 multiple sclerosis

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acute Cerebellar Ataxia of childhood

answer

gait secondary to a presumed autoimmune or postinfectious cause.

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Age of onset of acute cerebellar ataxia

answer

between 18 months and 7 years. Acute cerebellar ataxia rarely occurs in children older than 10 years of age.

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Epidemiology Acute cerebellar ataxia

answer

MCC of ataxia in children

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Infections which may cause acute cerebellar ataxia include:

answer

1) Varicella 2) Influenza 3) EBV 4) Mycoplasma ** Ataxia follows a viral illness by 2-3 weeks

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Clinical features of acute cerebellar ataxia

answer

a. Truncal ataxia with deterioration of gait is characteristic. Young children may refuse to walk for fear of falling. b. Slurred speech and nystagmus are often present, although hypotonia and tremors are less common. c. Fever is absent.

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Diagnosis of acute cerebellar ataxia

answer

An urgent neuroimaging study is necessary in all patients suspected of cerebellar ataxia to rule out acute life-threatening causes, such as tumors or hemorrhage in the posterior fossa. *******Head CT scan is normal in this disorder******

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Management of acute cerebellar ataxia

answer

Treatment is supportive. Complete resolution of symptoms may take as long as 2-3 months. Physical therapy may be useful.

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Guillain Barre syndrome is also called

answer

acute inflammatory demyelinating polyneuropathy

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Guillan Barre Syndrome

answer

demyelinating polyneuritis characterized by ascending weakness, areflexia, and normal sensation

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Etiology of Guillan Barre

answer

Campylobacter jejuni, which causes a prodromal gastroenteritis. Many other infectious agents have been associated with Guillain-Barré syndrome, such as cytomegalovirus, EBV, herpes zoster virus, influenza, varicella, and coxsackievirus

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Pathophysiology of Guillin Barre Syndrome

answer

a. The principal sites of demyelination are the ventral spinal roots and peripheral myelinated nerves. b. Injury is triggered by a cell-mediated immune response to an infectious agent that cross-reacts to antigens on the Schwann cell membrane.

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Clinical features of Guillain Barre

answer

a. Ascending, symmetric paralysis may progress to respiratory arrest. b. No sensory loss occurs, although low back or leg pain may be present in 50% of patients. c. Cranial nerve involvement. Facial weakness occurs in 40-50% of patients.

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Miller Fisher Syndrome

answer

variant of Guillain-Barré syndrome, characterized by ophthalmoplegia, ataxia, and areflexia.

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Diagnosis of Guillain BArre

answer

a. Lumbar puncture shows albuminocytologic dissociation (i.e., increased CSF protein in the absence of an elevated cell count), which is usually evident 1 week after symptom onset. b. EMG demonstrates decreased nerve conduction velocity or conduction block. c. Spinal MRI may be necessary in children younger than 3 years of age to rule out compressive lesions of the spinal cord because the sensory examination in children of this age is often difficult to evaluate.

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Management of Guillain Barre

answer

Treatment should be initiated as soon as the diagnosis is established because of the risk of respiratory muscle paralysis. a. Intravenous immune globulin (IVIG), given for 2-4 days, is the preferred treatment for children because of its relative safety and ease of use. The mechanism of action of IVIG is unknown. b. Plasmapheresis removes the patient's plasma along with the presumed anti-myelin antibodies and is performed over a 4- to 5-day period.

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Sydenham chorea is also called

answer

St. Vitus' dance

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Sydenham chorea

answer

self-limited autoimmune disorder associated with rheumatic fever presents with chorea (uncontrolled, restless proximal limb movements) and emotional lability.

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Epidemiology of Sydenham chorea

answer

a. Sydenham chorea occurs in approximately 25% of patients with rheumatic fever. b. Onset is most common between 5 and 13 years of age.

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Pathophysiology of Sydenham chorea

answer

occurs secondary to antibodies that cross-react with membrane antigens on both group A β-hemolytic streptococcus and basal ganglia cells.

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Clinical features of Sydenham chorea

answer

a. Immunologic response usually follows the streptococcal pharyngitis by 2-7 months. b. Children appear restless. The face, hands, and arms are mainly affected, and the movements appear continuous, quick, and random. The chorea may begin as clumsiness of the hands. c. Speech is also affected and can be jerky or indistinct. d. Patients are unable to sustain protrusion of the tongue (chameleon tongue). e. The wrist is held flexed and hyperextended at the metacarpal joints (choreic hand). On gripping the examiner's fingers, patients are unable to maintain the grip (milkmaid's grip). f. Emotional lability is common. g. Gait and cognition are not affected.

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DDX Chores

answer

1) Encephalitis 2) Kernicterus 3) SLE 4) Huntington's 5) Wilson's

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Diagnosis of Sydenham chorea

answer

There is no single confirmatory test for Sydenham chorea. The diagnosis rests on presumptive evidence of rheumatic fever and the exclusion of other likely causes of chorea. a. Elevated antistreptolysin O (ASO) or anti-DNase B (ADB) titer may indicate a recent streptococcal infection.

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What imaging should be done for evaluation of syndenham chorea

answer

1. Head MRI may show increased signal intensity in the caudate and putamen on T2-weighted sequences. 2. Single-photon emission computed tomography (SPECT) may demonstrate increased perfusion to the thalamus and striatum.

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Management of Syndenham chorea

answer

haloperidol, valproic acid, or phenobarbital.

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Prognosis of Syndenham chorea

answer

Symptoms may last from several months to 2 years. Generally, all patients recover.

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Tourette Syndrome

answer

chronic, lifelong movement disorder that presents with motor and phonic tics before 18 years of age.

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Tics

answer

Tics are brief, stereotypical behaviors that are initiated by an unconscious urge that can be temporarily suppressed

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How long must tics be present for a diagnosis of Tourette Syndrome ?

answer

Tics must be present ≥ 1 year, although their severity and frequency waxes and wanes.

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Comorbidities of Tourette Syndrome

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learning disabilities, attention deficit/hyperactivity disorder, and obsessive-compulsive traits.

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Disorders that may cause tics include

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1) Wilsons 2) Syndenham chorea 3) Partial Seizures 4) Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection ( PANDAS)

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Compare habits and tics

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Habits differ from tics in that habits are situation-dependent and are under voluntary control.

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Management of Tourette Syndrome

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a. Pimozide is the drug of choice because it is effective with minimal extrapyramidal side effects. b. Clonidine is less effective than pimozide. The major side effect is sedation. c. Haloperidol was the first drug used to treat Tourette syndrome, but the risk of tardive dyskinesia has limited its use. d. Hypnotherapy has been effective in some patients.

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Muscular Dystrophy

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progressive, X-linked myopathies characterized by myofiber degeneration. DMD is more severe than BMD.

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The muscular dystrophies include:

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Duchenne and Becker Muscular Dystrophies (DMD, BMD)

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Onset of symptoms for DMD and BMD

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2-5 yoa

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Etiology of muscular dystrophies

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deletion in the dystrophin gene.

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Pathophysiology of DMD and BMD

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1. Dystrophin is a high molecular weight cytoskeletal protein that associates with actin and other structural membrane elements to alpha and beta dystroglycan in skeletal and cardiac muscle fibers. 2. The absence ( secondary to truncation ) of dystrophin causes weakness and eventually rupture of the plasma membrane, leading to injury and degeneration of muscle fibers. * DMD is the longest coding region of any human gene thereby increasing the chance of spontaneous mutation

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Pathology of DMD and BMD

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Both DMD and BMD have the same appearance on light microscopy. 1. Degeneration and regeneration of muscle fibers 2. Infiltration of lymphocytes into the injured area and replacement of damaged muscle fibers with fibroblasts and lipid deposits 3. Loss of dystrophin results in myonecrosis

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Clinical features of DMD and BMD

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1. Slow, progressive weakness affecting the legs and pelvicgirdle first, progrssing superiorly 2. In DMD, children lose the ability to walk by 10 years of age. In BMD, patients lose the ability to walk by 20 or more years of age. 3. Pseudohypertrophy of calves is present because of the excess accumulation of lipids, which replace the degenerating muscle fibers. This is more common in DMD than in BMD. 4. Gowers' sign is present. Because of the weakness of pelvic muscles, patients arise from the floor in a characteristic manner by extending each leg and then "climbing up" each thigh until they reach an upright position. 5. Cardiac involvement (e.g., cardiomegaly, tachycardia, or cardiac failure) occurs in 50% of patients. 6. Mild cognitive impairment occurs in DMD, but normal intelligence is present in BMD.

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Diagnosis of DMD & BMD

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1. The presence of enlarged calf muscles in a young boy with muscle weakness suggests the diagnosis. 2. CK levels are very high. 3. EMG shows small, polyphasic muscle potentials with normal nerve conductions. 4. Muscle biopsy shows the typical dystrophic pattern. 5. Absent or decreased dystrophin levels are present on immunocytochemistry or Western blot assay of muscle. 6. DNA testing may reveal the gene deletion in > 90% of patients.

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management of DMD & BMD

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There is no cure but oral steroids can improve strength transiently when the disease is in the early stages. Gene replacement, myoblast transplantation, and dystrophin replacement have not been successful in clinical trials.

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Prognosis of DMN & BMD

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1. In DMD, patients are wheelchair dependent by 10 years of age and often die in their late teens from respiratory failure. Assisted ventilation may help individuals live longer. 2. In BMD, patients become wheelchair dependent in their twenties. Life expectancy is in the fifties.

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Genetic difference of DMD & BMD

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DMD is an X linked frame shift mutation (deletion) vs Becker's caused by an X linked point mutation

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Myasthenia gravis

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autoimmune disorder that presents with progressive weakness or diplopia.

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Etiology of MG

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caused by antibodies against the acetylcholine receptor (AChR) at neuromuscular junctions

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Neonatal Myasthenia

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transient weakness in the newborn period secondary to transplacental transfer of maternal AChR antibodies from a mother affected with myasthenia gravis.

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Juvenile myasthenia gravis

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presents in childhood secondary to AChR antibody formation.

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Who is usually affected by juvenile MG

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affects girls two to six times more frequently than boys.

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Clinical features of MG

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1. In neonatal myasthenia, hypotonia, weakness, and feeding problems are the most common findings. 2. In juvenile MG, several findings are characteristic. a. Bilateral ptosis is the most common presenting sign. b. Characteristic increasing weakness occurs later in the day and with repetitive or sustained muscle activity. c. Diplopia secondary to decreased extraocular movements may be the only manifestation. d. DTRs are preserved. e. Other autoimmune disorders, including juvenile rheumatoid arthritis, diabetes mellitus, and thyroid disease, may coexist.

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Diagnosis of MG

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Tensilon test. Intravenous injection of edrophonium chloride, a rapidly acting cholinesterase inhibitor, produces transient improvement of ptosis. 2. Decremental response to low-frequency (3-10 Hz) repetitive nerve stimulation 3. Presence of AChR antibody titers

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Management of neonatal myasthenia

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treatment is often symptomatic, because the disorder is self-limited. If respiration is compromised, cholinesterase inhibitors or IVIG may be indicated.

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Management of Juvenile MG

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a. Cholinesterase inhibitors are the mainstay of treatment.Pyridostigmine bromide is the drug of choice. b. Immunotherapy 1. Corticosteroids are used when cholinesterase inhibitors fail. 2. Plasmapheresis lowers the level of AChR antibodies. It is useful when symptoms worsen, when respiratory effort is compromised, or when the patient is unresponsive to other therapies. 3. IVIG also may be effective. c. Thymectomy is often performed.

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Prognosis of neonatal MG

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symptoms are mild and generally resolve within 1-3 weeks.

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Prognosis of Juvenile MG

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remission of symptoms can be as high as 60% after thymectomy.

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