ABPN Child Neurology flashcards

32 cards. Read the term and the definition here. The deck at the top of this page is optional.

Moro reflex

Primitive reflex present from birth to about 4 months; symmetric arm abduction and extension followed by adduction when the head is allowed to fall backward, indicating intact brachial plexus and brainstem.

Pincer grasp

Fine motor milestone usually achieved at 9 to 12 months; thumb and index finger appose to pick up a small object such as a raisin.

Head circumference growth

At birth about 35 cm; increases roughly 2 cm per month in the first 3 months, 1 cm per month from 4 to 6 months, and 0.5 cm per month from 6 to 12 months.

Molar tooth sign

Axial MRI finding of elongated, thickened superior cerebellar peduncles and a deep interpeduncular fossa, characteristic of Joubert syndrome and its related ciliopathies.

Tuberous sclerosis complex

Autosomal dominant disorder from TSC1 or TSC2 mutations, causing cortical tubers, subependymal nodules, cardiac rhabdomyomas, hypomelanotic macules, and infantile spasms.

Chiari II malformation

Congenital hindbrain anomaly with myelomeningocele, small posterior fossa, downward cerebellar tonsillar herniation, tectal beaking, and hydrocephalus from aqueductal stenosis or fourth ventricular outlet obstruction.

Therapeutic hypothermia for HIE

Cooling to 33.5 degrees Celsius for 72 hours, started within 6 hours after birth, improves survival and neurodevelopment in moderate-to-severe hypoxic-ischemic encephalopathy at 36 weeks or more.

Apgar score components

Five items scored 0 to 2 each: appearance or color, pulse or heart rate, grimace or reflex irritability, activity or muscle tone, and respiration; total 0 to 10 at 1 and 5 minutes.

Neonatal IVH grades

Grade I is germinal matrix hemorrhage only; II is intraventricular without dilation; III adds ventricular dilation; IV adds parenchymal hemorrhage; higher grades carry worse neurodevelopmental prognosis.

Infantile spasms

Epileptic encephalopathy of infancy with flexor or extensor spasms, hypsarrhythmia on EEG, and developmental regression; first-line treatment is ACTH or vigabatrin, especially in tuberous sclerosis.

Absence seizure

Brief impairment of awareness with staring, lasting seconds, provoked by hyperventilation; EEG shows 3-Hz generalized spike-and-wave; ethosuximide is first-line and seizures usually remit.

Dravet syndrome

SCN1A-related epileptic encephalopathy beginning in infancy with prolonged febrile seizures, later multiple seizure types, developmental delay, and worsening with sodium-channel blockers; valproate, clobazam, or stiripentol are preferred.

Duchenne muscular dystrophy

X-linked dystrophin deficiency causing proximal weakness, Gowers sign, calf pseudohypertrophy, high CK, cardiomyopathy, and respiratory failure; corticosteroids slow progression and exon-skipping therapy may apply.

Guillain-Barre syndrome

Acute immune polyradiculoneuropathy with ascending symmetric weakness, areflexia, and albuminocytologic dissociation; treat with intravenous immunoglobulin or plasma exchange and monitor respiratory capacity.

Spinal muscular atrophy

Autosomal recessive SMN1-related degeneration of anterior horn cells causing hypotonia, weakness, and tongue fasciculations; severity ranges from infantile to adult, and SMN-enhancing therapies are available.

Moyamoya disease

Progressive stenosis of distal internal carotid arteries with collateral lenticulostriate vessels giving a puff-of-smoke angiographic appearance; causes transient ischemic attacks or stroke and is treated with revascularization surgery.

Cerebral sinovenous thrombosis

Thrombosis of dural venous sinuses or cortical veins presenting with headache, seizures, papilledema, or focal deficits; MRI or MR venography confirms, and anticoagulation is generally given even with hemorrhagic infarction.

Sturge-Weber syndrome

GNAQ mutation causing facial port-wine stain in the first trigeminal division, ipsilateral leptomeningeal angioma, glaucoma, seizures, and stroke-like episodes; epilepsy often requires early control.

Medulloblastoma

Embryonal posterior fossa tumor arising in the cerebellar vermis, often with headache, vomiting, ataxia, and drop metastases through cerebrospinal fluid; treatment includes surgery, craniospinal radiation, and chemotherapy.

Pilocytic astrocytoma

Low-grade glioma most common in the cerebellum, appearing as a cyst with a mural nodule; BRAF alterations are frequent, prognosis is excellent, and complete resection may be curative.

Craniopharyngioma

Suprasellar epithelial tumor with calcification presenting with headache, visual field loss, growth failure, diabetes insipidus, or obesity; treatment is surgery and sometimes radiation.

ADEM

Acute disseminated encephalomyelitis, a post-infectious demyelinating disorder with multifocal white-matter lesions and encephalopathy; treat with high-dose corticosteroids and expect monophasic course, though relapses occur.

Anti-NMDA receptor encephalitis

Autoimmune encephalitis with psychiatric symptoms, seizures, dyskinesias, autonomic instability, and hypoventilation, often associated with ovarian teratoma; treat with immunotherapy and tumor removal.

Neonatal herpes simplex

HSV infection in the newborn causing seizures, lethargy, fever, and CSF pleocytosis; treat promptly with intravenous acyclovir while awaiting CSF polymerase chain reaction, because delay worsens outcomes.

Phenylketonuria

Phenylalanine hydroxylase deficiency causing elevated phenylalanine, musty odor, eczema, intellectual disability, and seizures; treatment is a low-phenylalanine diet and sapropterin in responsive patients.

Krabbe disease

Galactocerebrosidase deficiency causing infantile irritability, hypertonia, developmental regression, and globoid cells; it is a leukodystrophy with poor prognosis and possible newborn screening benefit.

MELAS

Mitochondrial encephalomyopathy with m.3243A>G mutation, causing stroke-like episodes, lactic acidosis, seizures, and muscle weakness; L-arginine may reduce episode severity.

Autism spectrum disorder

Neurodevelopmental disorder with persistent social communication deficits and restricted repetitive behaviors, present early in life; screening uses MCHAT, and behavioral therapies improve function.

ADHD diagnostic criteria

At least six inattentive or hyperactive-impulsive symptoms for 6 months, present before age 12, in multiple settings, causing impairment; treatment includes behavioral therapy and stimulants.

Tourette syndrome

Tic disorder with multiple motor and at least one vocal tic lasting more than one year, starting before age 18; commonly comorbid with OCD and ADHD, and treatment may use behavioral therapy.

Migraine without aura

At least five attacks of 4 to 72 hours with two of unilateral, pulsating, moderate-severe, or worsening with activity, plus nausea or photophobia; treat with analgesics or triptans.

Concussion management

Traumatic brain injury with transient symptoms; manage with individualized physical and cognitive rest followed by graded return to learn and then sport, avoiding alcohol and driving until cleared.