I saw this boy some eight years ago when he was only eight years of age born of second degree consanguinity.Birth and milestones were normal. No discernable family history except the death of a male child, of the mothers elder sister, at the age of fours years after severe convulsions cause unknown.
I saw this boy for convulsions and asthenic habits. Boy also had hyperpigmented palmar creases, oral mucosa and nail beds. His Na and K were low.He was diagnosed to have addison's disease and referred to a premier institute for for further workup. Confirmed and put on 10 mg prednisolone and 25 mcg of fludrocortisone and sent back.
Eight years later they report to me that the boy has reduced scholastic performance. Outbursts of anger, memory loss and concomitant strabismus. MRI was advised.
This is Schilder's disease, X-linked recessive. Abnormal VLCFA accumulation. Presence of both adrenal insufficiency and adrenoleukodystrophy. Adequate glucocorticoids, fludrocortisone and unsaturated fatty acids administration is the choice.Also bone marrow transplantation.
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(c) 2006 M.H. Rivner