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HPLC-based Assay to Monitor Extracellular Nucleotide/Nucleoside Metabolism in Human Chronic Lymphocytic Leukemia Cells

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X-linked adrenoleukodystrophy presenting as Addison's disease.

Bernhard Kaspar Morell¹, Jens Teichler, Kemal Budak

¹Kantonsspital Münsterlingen, Internal Medicine, Postfach, Münsterlingen, 8596, Switzerland. bernhardmorell@hotmail.com

BMJ Case Reports

|July 4, 2012

Summary

This case study highlights adolescent X-linked adrenoleukodystrophy (X-ALD) presenting with adrenal insufficiency and neurological changes. Early diagnosis is crucial for managing this rare genetic disorder.

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Area of Science:

Endocrinology
Neurology
Genetics

Background:

Adrenoleukodystrophy (ALD) is a rare, inherited peroxisomal disorder.
X-linked ALD (X-ALD) primarily affects males, leading to demyelination and adrenal insufficiency.
Adolescent-onset X-ALD can present with diverse neurological and endocrine symptoms.

Observation:

A young male with ADHD and cognitive impairment presented with fatigue, anorexia, and skin hyperpigmentation.
Laboratory results indicated primary adrenal insufficiency (low cortisol, high ACTH).
Brain imaging revealed parieto-occipital signal abnormalities.

Findings:

Elevated very long chain fatty acids (VLCFA) confirmed the diagnosis of X-ALD.
The patient's advanced disease stage precluded hematopoietic stem cell transplantation (HSCT).
Treatment involved hormone replacement, counseling, and supportive care.

Implications:

This case underscores the importance of considering X-ALD in adolescents with unexplained adrenal insufficiency and neurological symptoms.
Timely diagnosis and management can mitigate severe complications.
Further research into novel therapeutic strategies for advanced X-ALD is warranted.