July - September 2005, Volume 1, Issue 3

Galesanu C, Lisnic N, Branisteanu D, Moisii L, Tache C, Diaconu G, Rusu C

Adrenoleukodystrophy - case report

Acta Endo (Buc) 2005, 1 (3): 359-368
doi: 10.4183/aeb.2005.359

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

Keywords: adrenoleukodystrophy, childhood

Correspondence: Corina Galesanu, Endocrinology Departament ?Gr. T. Popa? University of Medicine and Pharmacy, 1 Blvd. Independentei, Iasi, Romania, Phone/Fax: + 40 232 251 716, e-mail: galesanu@iasi.mednet.ro