CASE HISTORIES
Case 1. This 9-month-old girl was the product of a normal pregnancy
and delivery. Her neonatal growth and development were unremarkable except
for a tendency to keep her fists clenched and her arms and legs extended.
At the age of three months, the child seemed overly irritable and cried
excessively. At four months of age, she began to have generalized seizures
that were poorly controlled by anticonvulsants. She had recurrent respiratory
infections but also had marked temperature fluctuations even when apparently
well.
By seven months, the child showed severe motor retardation and was deaf
and blind. Her pupils reacted poorly to light and there was only random
eye movements with no tracking. The fundi were pale. Muscular tone was increased
moderately in the arms and markedly in the legs. She withdrew her extremities
upon painful stimulation. Her head circumference was 42 cm and there was
no visceromegaly. Motor nerve conduction velocity was markedly reduced.
Biochemical analysis of serum enzyme levels was requested.
Clinical Diagnosis: _____________________________________
Biochemical analysis would be expected to show a deficiency of ____________________.
- Biochemical analysis showed deficient activity of galactocerebroside
ß-galactosidase. The child died two months later.
What changes would be expected in pathological examination of the brain?
___________
Case 2. This 2-year-old boy was the product of an uneventful pregnancy
and delivery in a 20 year-old Jewish woman. The child's birth weight was
7 lbs, 12 oz. His growth and development were apparently normal until the
age of 8 months. Following a mild febrile illness, he began to lose weight
and was no longer able to sit. By 11 months, he was lethargic, rarely cried,
and fed poorly. The child continued to deteriorate and was eventually hospitalized
at 15 months of age for evaluation of his psychomotor retardation.
Physical examination revealed a lethargic child with a weak cry. His head
circumference was normal and his anterior fontanelle was closed. His eyes
showed roving movements but no tracking. The pupils reacted to light. Funduscopic
examination disclosed optic atrophy with a cherry red spot in the macula.
The child exhibited an exaggerated startle response and episodes of decerebrate
posturing. His extremities were wasted, stiff, and displayed "clasp
knife" spasticity. Deep tendon reflexes were hyperactive but there
were no Babinski signs. There was no visceromegaly. All routine clinical
laboratory studies were normal. Biochemical analysis of serum enzyme levels
was requested.
Clinical Diagnosis: ____________________________________________
Biochemical analysis would be expected to show a deficiency of: ____________________
Are distended neurons with foamy cytoplasm an expected feature of the pathological
changes?
Case 3. This 62 year old white male had been a known heavy alcoholic
spree drinker for many years. Two years previously he was admitted to the
hospital because of delirium tremens. After his most recent drinking spree
he found himself in Florida (he lived in Boston), not knowing where he was.
Apparently he had drifted aimlessly for five weeks with no definite food
intake for a month. Neurological examination revealed diplopia, nystagmus,
ataxia, marked memory impairment, confabulation, disorientation for time
and place, with no insight for his disorientation or the reason for his
hospitalization, and decreased sensation in distal lower extremities.
Clinical Diagnosis:______________________________________________
What treatment would you recommend?______________________________
The patient was treated with thiamine. The diplopia disappeared and there
was marked improvement in extraocular muscle function. However, evaluation
3 months later indicated persistent disorientation for time and severe selective
deficits in recent memory.
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Answers:
Case 1: Krabbe's disease (globoid cell leukodystrophy)
galactocerebroside ß-galactosidase
myelin deficiency, lipid-laden macrophages, globoid cells, gliosis
Case 2: Tay-Sach's disease
hexosaminidase A
yes
Case 3: Wernicke-Korsakoff syndrome
thiamine (B1) administration
Acknowledgements: Cases 1 and 2: Adapted from Schochet and McCormick,
Neuropathology Case Studies
Case 3: Adapted from Curtis, Jacobson & Marcus, An Introduction to the
Neurosciences, p. 758.