Pediatric Neurology Flashcards
Cerebral Palsy
pre or perinatal damage to cerebromotor pathways.
Hemiparetic: weakness and spasticity are seen on one side of body.
Diparetic: spasticity of all four limbs, affecting the legs more than arms.
Spastic quadriplegic: includes seizures
Huntington’s
triplet repeats, caudate atrophy, choreiform movements
Charcot Marie Tooth
Peripheral neuropathy. Myelinated fibers are preferentially affected.
28 yo construction worker is evaluated because of “clumsiness.” never been athletic but has noted increased tendency to trip. High-arched feet and moderate weakness of foot and ankle muscles. Reflexes are 1+ except absent at the ankles. Diminished vibration and JP at toes.
Charcot Marie Tooth
Becker’s muscular dystrophy
milder form of becker’s and duchenne. Myotonic dystrophy associated with TIIDM, frontal balding, ptosis, slow relaxation of grip is the myotonia.
Neurofibromatosis type I
10 x more common than NF2
Tuberous Sclerosis
A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease.
Skin + Brain
Acute intermittent porphyria
Sx: peripheral neuropathy (stocking glove), proximal motor weakness, abdominal pain, urinary symptoms
Tx IV hematin. Sulfonamides, hormones, and barbiturates precipitate attack.
McArdle’s disease
Glycogen storage disease V
Symptoms include exercise intolerance with muscle pain, early fatigue, painful cramps, and myoglobin in the urine (often provoked by a bout of exercise).
Congenital CMV
nodules on MRI that are subpial and subependymal. Sx: low birth weight, microcephaly, seizures, petechial rash similar to the “blueberry muffin” rash of congenital rubella syndrome, and moderate hepatosplenomegaly (with jaundice). hearing loss, vision impairment, and varying degrees of mental retardation.
Friedreich’s ataxia
most common inherited ataxia. kyphoscoliosis and pes cavus appearing in childhood with onset before 25. Spinocerebellar signs including limb ataxia and dysarthria and absent reflexes due to sensory axonal neuropaathy with systemic signs of diabetes mellitus and cardiac conduction and asymmetric septal hypertrophy problems.
Idebenone tx
myotonic dystrophy
autosomal dominant associated with failure of muscles to relax, ptosis, TIIDM, hypothyroidism, frontal balding and a slow course compatible with presentation in mid-adult life.
