Adreno-leukodystrophy with microphthalmia. A condition marked by general organ hypoplasia.
A 5-6/12 year old male child who was noted to have neurological impairment at birth, eventually died with widespread neurological disease. Pathological findings were compatible with adreno-leukodystrophy, but also showed microphthalmia and diffuse organ hypoplasia. A review of the clinical and pathological characteristics of adreno-leukodystrophy of previous cases and the current case suggests that the range of the disease spectrum may well involve most organs of the body. The possibility of an inherited membrane deficit is entertained.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000311:Adrenal Glands / Q000002:abnormalities*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D013577:Syndrome