docdoc9
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19. A 6-year-old boy is brought to the physician by his mother because of progressive visual loss over the past year. Over the past 2 years, he has had deterioration of his hearing, speech, writing, and intellectual performance. His maternal uncle had similar symptoms. Visual acuity is 20/200 bilaterally. Funduscopic examination shows optic atrophy. His hearing is markedly impaired. There is weakness and spasticity of all extremities. Deep tendon reflexes are extremely hyperactive. Babinski's sign is present bilaterally. On mental status examination, he is not oriented to place, year, month, or the names of his siblings. An MRI of the brain shows marked symmetric white matter disease involving all lobes. Diagnostic studies are most likely to show which of the following?
A
) Abnormally decreased serum cholesterol level
B
) Acanthocytes on blood smear
C
) An excess of very long chain fatty acids
D
) Normal nerve conduction studies
E
) Vitamin E deficiency
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| ngaybinhyen
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C
Adrenoleucodystrophy with excess VLCFA
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| ngaybinhyen
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The pt and maternal uncle have the same disease --> I'm gonna make an assumption considering this disorder to be X-linked.
There're 2 X-linked leukodystrophies
1. Pelizaeus-Merzbacher Syndrome (classical type)
- begins in the first few months of life, heralded by nystagmus and head tremor, ...
2. Adrenolekodystrophy (Siemerling-Creutzfeldt's form, the others: auto. recessive)
- Adrenal insufficiency frequently leads to shin hyperpigmentation or addisonian crisis
- Among the 6 variants of X-linked ALD (childhood cerebral ALD, adolescent cerebral ALD, adult cerebral, adrenomyeloneuropathy, adrenal insufficiency-only, and symptomatic heterozygotes), the childhood form is usually the more fulminating disorder. Patients are completely normal until 4 to 10 years of age, when behavioral problems such as failure in school become manifest. This first sign is the result of rapid regression of auditory discrimination, spatial orientation, speech, and fine motor skills. Seizures occur in less than a third of the patients reported by Naidu and Moser. Typically, there is a rapid clinical deterioration to spastic paraparesis, swallowing difficulties, and visual loss, culminating in a vegetative state within 2 years of the appearance of symptoms. Neuroimaging typically demonstrates a symmetrical periventricular demyelination, more prominent initially over the occipital regions, with characteristic contrast enhancement at the rim of the lesion.
By reviewing the literature, it seems like adrenal finding is not a must in childhood ALD
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| docdoc9
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Thanks
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