Abstract
Isolated adrenal insufficiency may precede the development of neurological symptoms in boys with ALD. In view of an early diagnosis, conjunctival biopsies were done in 2 groups of boys with documented Addison's disease : Group A consisted of 5 boys aged 5 to 16 years with typical neurosensorial signs and extended demyelination on cranial tomodensitography (TD) ; Group B consisted of 3 boys aged 7 to 11 years, without neurological symptoms but with limited posterior demyelination of TD in 1, and a familial history of ALD in another. In all cases, abnormal inclusions were detected in the cytoplasm of Schwann cells surrounding myelinated axons. In Group A, electronmicroscopy showed clear clefts associated with bundles of lamellar structures and rows of glycogen. In Group B, multilamellar bodies were frequently disposed in groups of 2 or 3 inclusions. In conclusion, conjunctival biopsy, demonstrating peculiar lesions in Schwann cells, offers the possibility of a precocious diagnosis of ALD in boys with Addison's disease, before the development of neurological symptoms.
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Arsenio-Nunes, M., Chaussain, J. Interest of conjunctival biopsy in the early diagnosis of adrenoleucodystrophy (ALD) in boys with Addison's disease. Pediatr Res 15, 1556 (1981). https://doi.org/10.1203/00006450-198112000-00127
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DOI: https://doi.org/10.1203/00006450-198112000-00127