Abstract
IntroductionX-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 presentationA 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 our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation.ConclusionThe presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.
Highlights
X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids
X-linked adrenoleukodystrophy (X-ALD) leads to the impairment of peroxisomal β-oxidation, accumulation of very long chain fatty acids (VLCFA), progressive demyelination of the nervous system, and adrenal insufficiency [1,2]
A brain magnetic resonance imaging (MRI) revealed bilaterally diffuse symmetric high T2 and FLAIR signal abnormality involving the white matter of several parts of his brain, which was suggestive of a diffuse and active demyelination process (Figures 4)
Summary
We described a 3-year-old boy with X-ALD, adrenal insufficiency and CPAM. The early and accurate diagnosis and treatment of patients with X-ALD and its complications can delay progressive degenerative changes and attenuate further neurologic and metabolic dysfunction. The surgical removal of CPAM is recommended by most authors to treat respiratory distress and to prevent infections and malignant transformation. This is an original case report that may be of particular interest to pediatricians in general and of special importance to certain subspecialists such as pediatric endocrinologists, pulmonologists and neurologists. ACTH: adrenocorticotropic hormone; BUN: blood urea nitrogen; CPAM: congenital pulmonary adenomatoid malformation; Cr: creatinine; CT: computed tomography; MRI: magnetic resonance imaging; VLCFA: very long chain fatty acids; X-ALD: X-linked adrenoleukodystrophy
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
