Childhood Disorders

Front 1

dandy-walker malf

Back 1

failure in development of upper neural tube; has rudimentary posterior brain structures. 4th ventricle is a cyst. severe psychomotor retard, MR, hydroceph, agenesis of cc

Front 2

arnold chiari malf

Back 2

congenital deformation of BS and cerebellum; medulla and/or cerebellum displaced down thru foramen magnum

Front 3

spina bifida occulta

Back 3

asymptomatic spinal lesion; incidental discorvery. abnormal fusion of spinal lumbar vertebra

Front 4

spina bifida cystica

Back 4

includes cystic-like sac (meningomyelocele) that may contain SC. meninges and skin = meningocele= good prognosis. myelomeningocele = tangle of SC, meninges, nerve roots= more common. most pare paraplegic & MR. cd be genetic or folic acid deficient, toxins or AEDs implicated

Front 5

hydrancephaly

Back 5

cerebral hemispheres replaced by cystic sacs w/ csf. may be due to vasc occlusion. hydrocephalus = anencephaly.

Front 6

porencephaly

Back 6

large cystic lesion develops, cd be vasc occlusion, severe trauma, infection. oft assoc w/ MR, epilepsy

Front 7

lissencephaly

Back 7

disorder of cell migration, characteristic facial appearance- prominent forehead, short nose, small jaw. assoc w/ agenesis of CC, microencephaly, epilepsy, retarded growth, szs, low responsivity. cd be agyric or pachygyric (few gyri)

Front 8

agenesis of cc

Back 8

cd be familial, seen in schizo, dandy-wlker, spina bifida, microencephaly, megaencephaly. epilepsy, MR common. assoc w/ vis-spati deficits, impaired syntatic ability.

Front 9

neurocutaneous disorders

Back 9

embryologic defects in the ectoderm, usu inherited thru autosomal dominant pattern, usu stable altho can undergo malignant transformation in cerebrum. examples: tuberous sclerosis, neurofibromatosis, sturge-weber syndrome, ataxia-telangiectasia

Front 10

tuberous sclerosis

Back 10

nodules on malar surface of face, in childhood are subtle hypopigmented areas on skin, scaly lesions on trunk, fibromas on fingers. classic triad- epilepsy, MR, hypopigmented areas or adenoma sebaceum. potato-like nodules in brain

Front 11

neurofibromatosis type 1

Back 11

"peripheral type" classic triad- cafe au lait spots, neurofibromas (along peripheral nerves- can reach grotesque proportions), lisch nodules (eye haratomas). also has intracerebral tumors (astrocytomas, optic nerve gliomas) assoc w/ adhd, LD, lower IQ

Front 12

neurofibromatosis type II

Back 12

b/l acoustic neuroma causing eventual deafness, may have meningiomas and possible mental impairment as a result.

Front 13

sturge weber syndrome

Back 13

port wine stain in region of trigeminal nerve, facial and cerebrovascular malf, calcified vasc region accompanied by atrophy in one hemisphere. assoc w. MR, LD, behavioral disturbance, epilepsy.

Front 14

ataxia- telangiectasia

Back 14

recessive, interferes w/ DNA repair, assoc w/ immunodeficiency, chronic sinus/respiratory infections, later lymphomas and neoplasms. progressive ataxic gait due to degen of cerebellar vermis, cog imp, cutaneous component- small dilated vessels (telangiectasia), seizures

Front 15

down's syndrome

Back 15

1:600 births; trisomy 21 (3 chromosomes instead of 2), increased risk for leukemia, heart defect, ear infections, epilepsy, AD in 100% over 30?? w/ deficits beginning at early as age 10, mild to mod MR.

Front 16

prader-willi syndrome

Back 16

chromosome 15, paternal transmission, due to deletion of chromosome, poor tone, obese, voracious eaters, steal food or pick from garbage, short stature, hypogonadism, aggressive outbursts, compulsive picking behavs, articulation deficits. wt gain usu does not begin until preschool yrs

Front 17

angelman syndrome ("happy puppet")

Back 17

chromosome 15- maternal transmission, motor and severe MR, microcephaly, epilepsy, involuntary, jerky-ataxic movements, smiling face, paroxysms of laughter unprovoked, speech is limited, hyperactive, may be misdiagnosed as Rett's or autistic

Front 18

williams syndrome

Back 18

deletion on chromosome 7 which disrupts plastic properties of arteries, aorta, skin, and other organs. elfin face, no gross neurological abnormalities but motor delays and clumsiness, mild-mod MR, impaired reading and writing, vis-spat defs, nonverbal defs. inexplicable, extraordinary musical talents and verbal fluency (devoid of substance).

Front 19

fragile x

Back 19

In Males- 2nd most common cause of MR (next to Down), twice as common in males (1:1500), CGG repeat in defective gene, >head circumference, elongated face, prominent ears, enlarged testicles, IQ normal-profound MR, IQ declines b/w childhood and adulthd, dysfluent, apraxic speech, echolalia, palilalia, behavioral disturbance (ADHD, LD, autism, PDD). In females- lack dysmorphic features, + FL deficits, IQ 80-100, less often behavioral disturbance, ? cog defs

Front 20

rett's syndrome

Back 20

females only, assumed lethal in males. after 6 months normal development, regress in all areas. no language, walking, cognitive capacity, profound MR2 characteristics- stereotypies (hand clapping and wringing) and acquired microcephaly. 50% have szs, share features with autism

Front 21

klinefelter's syndrome

Back 21

XXY, seen in males, tall, eunuchoid, gyenomastica, broad hips, below avg IQ or mild MR, oft dyslexia and LD, passive decreased libido

Front 22

Turner's syndrome

Back 22

seen in females, missing X chromosome (XO) or XO/XX mosaics, small stature, poorly developed secondary sex charac., webbed neck, broad chest, deformed bend in elbow, low set hairlines, no consistent np profile, MR rare or mild, verbal >nonverbal, math probs, social deficits, impaired face recognition, risk for nvld, LD or ADHD

Front 23

XYY syndrome

Back 23

extremely tall, severe acne, cerebral migration abnormalities, maturational delays, temper tantrums, high activity, delayed speech acquisition, characterologic problems, average to below avg IQ. medicine now rejects relationship b/w XYY and violent behavior. (occasionally used plot device in tv in movies)

Front 24

Lesch-Nyhan syndrome

Back 24

X-linked disorder, self-injurious behavior, extrapyramidal involvement, behv disturbance, variable np performance. aka juvenile gout- buildup of uric acid in body fluids. Neurological signs include poor muscle control and moderate mental retardation. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease.

Front 25

adrenoleukodystrophy

Back 25

x-linked, adrenal insufficiency,1st sxs 5-15 y.o. eventual mania, gait impairment, dementia, vegetative state. heterogeneous disease, not all as serious. "lorenzo's oil" controversial unproven tx.