ESPE2021 ePoster Category 2 Adrenals and HPA Axis (57 abstracts)
X-linked Adrenoleukodystrophy in south of Tunisia
Sana Kmiha 1,2 , Nihed Bouzidi 1 , Khalfallah Rania 3 , Ines Maaloul 1 , Imen Chabchoub 1 , Hajer Aloulou 1 , Hassen Kammoun 3 & Thouraya Kammoun 1
1Pediatrics Department, Hedi Chaker University Hospital, Sfax, Tunisia; 2Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia; 3Genetic Department, Hedi Chaker University Hospital, Sfax, Tunisia
Introduction: Adrenoleukodystrophy (ALD) is a rare X- linked disease caused by a mutation of the peroxisomal ABCD1gene. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, axonal demyelination and the accumulation of high levels of very long chain fatty acids (VLCFA) in the plasma and tissues.
Methods: It’s a retrospective study of all cases of X-linked ALD who were diagnosed in the pediatrics departement of the university hospital of Sfax between 2004 and 2020. Specific data related to epidemiology, phenotype and diagnosis of patients with X-linked adrenoleukodystrophy were collected and analysed.
Results: Six cases of ALD were included. The mean age at first symptoms of ALD was 4 years 3 months old. Parental consanguinity was noted in one case and a family history of ALD was reported for 4 children. For four patients, X- linked ALD started as primary adrenal insufficiency, manifesting with skin hyperpigmentation and vomiting. For two patients, neurological signs were the first symptoms of the disease. All children developed adrenal insufficiency during the course of the disease. Brain magnetic resonance imaging (MRI) showed signs of leukodystrophy in 2 cases. The plasma very long chain fatty acids (VLCFA) level were significantly increased for five children. Genetic testing identified the mutation of ABCD1 gene in 4 cases.
Conclusion: X-linked ALD should be screened for boys with adrenal insufficiency. This disorder is confirmed by serum VLCFA levels and/or genetic testing. Confirmation of the diagnosis of X-ALD by analysis of mutations in ABCD1 is particularly recommended to identify heterozygous women and for antenatal diagnosis of ALD.
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