pediatric Flashcards
prader willi syndrome
mental retardation, obseity pica, hypotonic as infant. deletion of paternal contribution of chromosome 15
angelman syndrome
severe mental retardation. sleep disturbance, seizure, jerky mvt (hand flapping), freq laughter or smiling, happy demeanor. cause by loss of normal maternal contribution to a region of chromosome 15.
fragile x syndrome
single gene cause of autism. most common inherited cause of intellectual disability. trinucleotide repeat
von hippau-lindau syndrome
auto dom. multiple hemangioblastoma of eye and brain. neuro sx minimal unless rupture of a CNS hemangioblastoma. similar lesion can be found in kidney and pancreas
tuberous sclerosis complex (TSC)
variable combo of mental retardation, seizures, adenoma sebaceous which are angiofibroma that appear on face as red papillose. kidney, heart eyes, lungs affected.
must of TSCI on chromo9 -hamartin or TSC2 on chromo 16-tuberin. 2/3 from sporadic gene mut. 1/3 inherited auto dom.
TSC MRI
4 features
1) cortical tubers
2) subependymal nodules-
3) ventriculomegaly
4) subependymal giant cell atrocytoma- benign tumor, clinically silent but may obstruct ventricular system- need surgical removal
TSC derm sx
ash leaf spot, shagreen’s patch( raised area of harden skin on lower back), adenoma sebaceum (facial angiofibroma- specific for TS), ungulate fibroma (nodular fibromas under nails)
neurocutaneous syndromes
phakomatosis: neurofibromatosis type I/II, TS, VHL syndrome, sturge weber syndrome
neurofibromatosis type II
mut on chromosome 22. multiple schwannomas, meningiomas, ependymomas. present by age 20, usually with CN deficit from tumor. ex can’t hear from ears.
NF1
mut on chrom17. more common than NF2. present bf 5yo with seizure, mental retardation, painful neuropathies from peripheral neurofibroma, cafe au laits spots, plexiform neurofibroma, axillary freckling, optic gliomas, thinning of long bones
sturge weber syndrome
congenital disorder. seizure start in infancy, most mental retard, port wine stain birthmark- caused by over growth of capillaries. in distribution of 1st division of trigeminal N. neuronal loss and calcification in cerebral cortex IP to birthmark. glaucoma common. may beed hemispherectomy to prevent seizure
acute disseminated encephalomyelitis
acute inflm disease that follows an infection. presents with encephalopathy and seizures, confusion.
rett’s syndrome
only in girls. grow and dev normally but subtle abn in early infancy-hypotonia, difficluty feeding, jerkiness in limb mvt. cog and physical begin age 1-4. lose purposeful use of hands and ability to speak –> convulsive hand mvt (singing and washing). problem crawling or walking, decr eye contact
lesch nyhan disease
x-linked disorder caused by nut of hypoxanthine guanine phosphoribosyl transferase enzyme. hypotonia, mental retard. self mutilation. whew off fingers. incr uric acid in serum. prone to gout and kidney stones.
erb’s palsy
damage to upper brachia plexus C5-6. causes: difficult delivery, MVA where next is stretched away from shoulder. in newborn present as flaccidity and medial rotation of arm. atrophy of biceps and brachioradialis M (the extensors). waiter’s tip.
klumpke’s paralysis
damage C8-T1. occur with arm pulling in childbirth, having on tree, paralysis effects the intrinsic M of hand and flexor of wrist/fingers. result in total hand claw or ape hand.