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Menkes kinky hair syndrome: a rare neurodegenerative disease

Rozil Gandhi1, Ritu Kakkar, Sajeev Rajan

  • 1Department of Radiology, Tata Memorial Hospital, Parel, Mumbai 400012, India.

Case Reports in Radiology
|August 25, 2012
PubMed

Insights

Menkes kinky hair disease (MKHD) is a rare genetic disorder affecting copper metabolism. This case highlights typical MRI findings and the importance of MR angiography in diagnosing this severe neurological condition.

Area of Science:

  • Genetics and Neurology
  • Pediatric Medicine
  • Biochemistry

Background:

  • Menkes kinky hair disease (MKHD) is a rare X-linked recessive disorder affecting copper transport and metabolism.
  • It leads to progressive neurodegeneration and connective tissue abnormalities due to impaired copper-dependent enzymes.
  • Early diagnosis is crucial for potential management, though prognosis remains poor.

Purpose of the Study:

  • To present a comprehensively diagnosed case of Menkes kinky hair disease in a male infant.
  • To illustrate the characteristic neuroimaging findings and their evolution.
  • To emphasize the diagnostic utility of MR angiography in conjunction with clinical and biochemical data.

Main Methods:

  • Detailed clinical history and physical examination of a 4-month-old male infant.
  • Neuroimaging including serial MRI and MR angiography.
  • Biochemical assays and trich analysis (hair examination).

Main Results:

  • The patient presented with typical clinical features of MKHD.
  • MRI revealed evolving changes from asymmetric T2 hyperintensities to diffuse cerebral and cerebellar atrophy.
  • Subdural hemorrhages and characteristic tortuous intracranial arteries with distal narrowing were observed; MR angiography confirmed vascular anomalies.

Conclusions:

  • This case underscores the importance of integrating clinical presentation, biochemical analysis, and advanced neuroimaging like MR angiography for definitive MKHD diagnosis.
  • The unique vascular findings, including tortuous and narrowed intracranial arteries, are key diagnostic markers for MKHD.
  • Comprehensive evaluation is essential for understanding the disease's impact and for potential therapeutic strategies.

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