Peds Neuro Flashcards
Prader-Willi Syndrome
-Mental retardation/obesity (over-eats) -Hypotonic as infant - Deletions to part of paternal contribution of Chromosome 15
Angelman Syndrome
-Intellectual and developmental disturbances, seizures, jerky movements (esp hand flapping), frequent laughter/smiling, usually happy demeanor; - Loss of normal maternal contribution to a region in Chr 15.
Fragile X
-Most commonly known single-gene cause of autism; most common inherited cause of intellectual disability
Von Hippau-Lindau Syndrome
-AD - Multiple hemangioblastomas of eye and brain - Neurological symptoms are minimal unless rupture of CNS hemangioblastoma
Tuberous Sclerosis -clinical
variable combination of mental retardation, seizures, and adenoma sebaceum, which are angiofibromas that appear on the face as red papules. The kidneys, heart, eyes, lungs are affected as well.
Tuberous Sclerosis- genes
-mutation of one of two genes -TSC1 on chromosome 9 encodes for the protein hamartin -While TSC2 on chromosome 16 which encode for the protein tuber in - 2/3 sporadic; 1/3 AD genetic
Tuberous Sclerosis- radiology
1) Cortical tubers 2) Subependymal nodules 3) Ventriculomegaly 4) Subependymal giant cell astrocytoma (SEGAs)
Tuberous Sclerosis- Derm
1) ash leaf spot 2) Shagreen’s patch (usually lower back) 3) Adenoma Sebaceum -facial angiofibromas 4) Ungual fibromas- nodular fibromas
NF2-Chromosome / age of appearance
Chr 22; around age 20 (usually w/CN defects)
NF2- clinical
schwannomas, meningiomas, and ependymomas
NF1- Chromosome/Age
Chr 17/ before age of 5 ( more common than NF2)
NF1- Clinical
-seizures, mental retardation, painful neuropathies from peripheral neurofibromas - cafe-au-laits spots, plexiform neurofibromas, axillary freckling, optic gliomas, thinning of long bones
Sturge-Weber Syndrome -clinical
-congenital 1) seizures (early infancy, can be bad) 2) port-wine stain birthmark (overgrowth of capillaries) 3) Usually distribution of the 1st division of trigeminal nerve 4) neuronal loss and calcification in cerebral cortex ipsilateral to birthmark 5) glaucoma common
Sturge-Weber Syndrome-radiology
calcification in -“tram tracking pattern”
Acute disseminated encephalitis
acute inflammatory disease that often follows an infection or vaccine. It presents with encephalopathy and seizures
Rett’s Syndrome -epi
ONLY in girls
Rett’s Syndrome-onset
Children appear to grow and develop normally w/ subtle abnormalities ( hypotonia, dif feeding, jerkiness in limb movements)
Retts’s Syndrome-CNS
-cognitive/physical defects begin gradually but sometimes suddenly. - between 1-4; lose purposeful use of the hands followed by compulsive hand movements such as wringing/washing. -problem crawling/walking/diminished eye contact
Lesch Nyhan - gene
-x-linked -Mutation of hypoxanthine-guanine phosphoribosyl transferase enzyme
Lesch Nyhan-clinical
-self mutation -Elevated uric acid-> prone to gout and kidney stones
Erb’s palsy
-Neck injury -C5-C6 - Waiter tip deformity ; but can also be flaccidity, medial rotation of the arm. atrophy of biceps/brachioradialis
Klumpke’s paralysis
-C8-T1 -lower portion of brachial plexus - arm pulling - effects intrinsic muscles of hand/ flexors of wrist/fingers. -Claw hand
-Mental retardation/obesity (over-eats) -Hypotonic as infant - Deletions to part of paternal contribution of Chromosome 15
Prader-Willi Syndrome
-Intellectual and developmental disturbances, seizures, jerky movements (esp hand flapping), frequent laughter/smiling, usually happy demeanor; - Loss of normal maternal contribution to a region in Chr 15.
Angelman Syndrome
