Background: Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the CNS, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.
Objective: To research the clinical features, laboratory tests, imaging examinations and treatment on children who suffer from X-linked ALD. Also aim at revealing the correlation between the severity of disease and level of very long chain fatty acids (VLCFAs) or MRS.
Methods: Analyze Eight cases of X-ALD patients clinical data, laboratory and imaging results, and make a review of related literatures.
Results: Eight patients were male, onset age ranged from 5 to 11 years old, and the course of disease was from 4 months to 3 years. Three patients presented with reduced vision, two patients presented with hyperpigmentation and all patients show different degree nervous system symptoms, such as intelligence breakdown, attention deficit, coordination, and communication ability decrease, etc. The measurement of VLCFA revealed that low level of C22:0 and high level of C24:0 and C26:0, whats more, we can find increases in the C26:0/C22:0 and C24:0/C22:0 ratios. Cranial MRI showed typical lesion. MRS also demonstrated abnormal image.
Conclusion: Major clinical features of ALD were demyelination of white matter and adrenal insufficiency, generally with rapid development. Serum VLCFA is a specific indicator for diagnosis of ALD, and MRS can find lesion in an early phase. The treatment of ALD is difficult, and some reasearchers demonstrated that application of hematopoietic stem cell transplantation in the early stage is the most effective way until now.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology