Endocrine Abstracts

Background: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The clinical spectrum in males with X-ALD ranges from isolated adrenal insufficiency (AI) and slowly progressive myelopathy to devastating cerebral demyelination. Gitelman syndrome (GS) is a rare autosomal recessive inherited tubular disease which is caused by mutation in the SLC12A3 gene. It is characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. We report the association of these two rare syndromes in a 17-year-old male patient.

Case Presentation: A 17 years old male patient, intellectually disabled, with familial history of an intellectual disability and deaths at a young age, is hospitalized in the Endocrinology Department for acute AI with good evolution under hydrocortisone. The patient had presented several similar episodes since the age of 2 months. Nevertheless the diagnosis of AI hadn’t been made by the pediatricians because of the presence of normokalaemia during the acute episodes and the persistent of hypokalaemia after administration of hydrocortisone. The patient had melanoderma on examination. The neurological examination was normal. The brain MRI was normal. Faced with the male sex and mental debility, a dosage of very long chain fatty acids was requested, returning positive. The diagnosis of X-ALD was therefore retained. The evolution was marked by the persistence of hypokalemia with hyperkaliuresis, hypomagnesemia, hypocalciuriaand metabolic alkalosis raising suspicion of the diagnosis of GS. The genetic study in search of the mutation of the SLC12A3 gene is in progress. The patient was discharged on hydrocortisone and potassium supplementation.

Conclusions: The association of X-ALD with GS has never been reported in the literature. Genetic confirmation should be done before discussing the genetic and molecular mechanisms behind this association.