Inherited Issues + Kiddos

Question 1

Huntington’s disease

Answer 1

triplet repeats, caudate atrophy, choreiform movements

Question 2

Cerebral Palsy

Answer 2

Walks on toes, began walking late, hyperreflexia, bilat Babinski, heel cord contracture, occasional writihing of upper limbs
IQ can be normal

Question 3

Charcot Marie Tooth Disease

Answer 3

Most common inherited peripheral neuropathy
Myelinated fibers preferentially affected
ie: clumsiness, increased tendency to trip, high arched feed, weakness of foot/ankle, absent reflexes, down vibration and JP at toes?

Question 4

Becker’s Muscular Dystrophy

Answer 4

Milder form, patients in teens, can live into 50s, weakness with climbing stairs and heavy lifting, atrophy at shoulders and pelvis

Question 5

NF1

Answer 5

Skinlesions, pain in neck to L thumb and index finger, absent bices/brachiorad, dumbbell-shaped lesion at c6 foramen!
NF1 10X as common
NF2 w/ acoustic neuromas bilaterally

Question 6

Tuberous Sclerosis

Answer 6

Two different types, Type I with maybe normal intellect
Autism + seizures w/ subependymal nodues clustering around formaen of Monro on MRI

Also: Giant cell astrocytoma: (grows and blocks the CSF flow leading to dilatation of ventricles causing headache and vomiting)
Cortical tubers: after which the disease is named.

Question 7

Acute intermittent porphyria

Answer 7

Drugs that stress rate-limiting step in HB metabolism by inducing enzyme funcion, precipitate an attack = sulfonamides, hormoes, barbituates
Feel weakness and abdominal pian, areflexia, no Babinski
Diminished sensation to pin prick in stocking-glove pattern
Tx = IV hematin

Question 8

McArdle’s disease

Answer 8

Exercise induced muscle cramps and myoglobinuria
Glycolytic pathway propblem (myophophorylase)
Disorder of glycogen breakdown

Question 9

Scoliosis

Answer 9

Idiopathic condition, curvature of thoracic spine? Can be anything

Question 10

Congenital CMV

Answer 10

Seizure w/ TC, small head circumference, poor hearing, increased muscle tone w/ clonus at ankles,
Small hyperdensities on CT lateral ventricle margins (subpial and subependymal)
Give gancicloir for CMV chorioret in HIV pts

Question 11

Friedrich’s ataxia

Answer 11

Mot frequently inherited atax in white patients, from 9q13 frataxin
Autosomal recessive, onset befre age 25
Kyphoscoliosis and pes cavus in childhood, with gait difficulty
Retinitis pigmentosa visual loss later
Spinocerebellar signs like limb ataxia, dysarthria, absent reflexes b/c sensory axonal neuropathy
Diabetes mellitus, cardiac conduction, asymmetric septal hypertrophy issues
Hits post colums, dorsal/ventral spincereb tracts, lateral corticospinal tracts!
Tx w/ idebenone (q10 analogue) to stop oxidative stress

Question 12

Mytonic Dystrophy

Answer 12

Autosom dom, failure of muscles to relax, ptosis, t2dm, hypothyroid, frontal balding, slow course!