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A Three-Year-Old Boy With X-Linked Adrenoleukodystrophy And Congenital Pulmonary Adenomatoid Malformation: A Case Report, Ibrahim Abdulhamid, Sermin Saadeh, Nedim Cakan
A Three-Year-Old Boy With X-Linked Adrenoleukodystrophy And Congenital Pulmonary Adenomatoid Malformation: A Case Report, Ibrahim Abdulhamid, Sermin Saadeh, Nedim Cakan
Wayne State University Associated BioMed Central Scholarship
Abstract
Introduction
X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy.
Case presentation
A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to …