Leukodystrophy-Pediatric Oncall

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Rakesh Kumar, Puja Bhagat Department of Pediatrics, Katihar Medical College, Katihar, Bihar, India ...

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	Specialist Answers
Question
The last time i asked pediatric on call a question on leukodystrophy it was answered very generally. It lacked the personal touch and my query wasn't satisfied. I again have a patient whom we think to be a certain leukodystrophy?? MRI postponed due to delay in arranging funds by the family. The sequence of findings is as follows- Male child 14 yrs of age. Presenting with difficulty in walking speech and abnormal behaviour since last 4 yrs with increased tone in all the four limbs. His mother confirms an increased skin pigmentation along with the problems started. Our first doubt was ALD. But family also has an elder FEMALE sibling who had similar problems starting around the same age with increased pigmentation and is presently 18 yrs old. CECT in this boy is suggestive of hypodensities in both cerebral hemispheres and basal ganglia (CECT done outside). Now can you please suggest some disorder which encompasses both the siblings? Please help me at the earliest.
Answer
Since both brother and sister are affected, one must rule out hereditary condition such as MLD and Krabbe's disease. Also chronic infections such as HIV and PML should also be ruled out. Apart from MRI and specific enzyme analysis, one must do NCV to look for peripheral neuropathy, fundus exam to look for optic atrophy and CSF for cytoalbuminic dissociation. Back to All Questions

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