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Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Two brothers with X linked adrenoleukodystrophy.

Q T Islam1, M R Siddiqui, A Hossain

  • 1Department of Medicine, Dhaka Medical College, Dhaka, Bangladesh. prof.tarik@gmail.com

Mymensingh Medical Journal : MMJ
|July 20, 2010
PubMed
Summary

Adrenoleukodystrophy (ALD) diagnosis in Addison's disease patients is indicated by new neuropsychiatric symptoms and white matter lesions on MRI. Early detection is crucial for managing this severe genetic disorder.

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Area of Science:

  • Neurology
  • Genetics
  • Endocrinology

Background:

  • Addison's disease is an adrenal insufficiency disorder.
  • Adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the white matter of the brain.

Observation:

  • Two cases presented with abrupt neuropsychiatric symptoms.
  • Magnetic resonance imaging (MRI) confirmed extensive, symmetric white matter demyelination.

Findings:

  • The combination of symptoms, disease progression, and MRI findings strongly suggested ALD in Addison's disease patients.
  • Neuropsychiatric symptoms in patients with Addison's disease warrant ALD evaluation.

Implications:

  • Early diagnosis of ALD is essential to delay disease progression.
  • Genetic counseling, carrier detection, and antenatal diagnosis can help reduce ALD incidence.
  • ALD has a grave prognosis in most cases, highlighting the need for timely intervention.