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Menkes kinky hair disease: A case report

Asok K Datta1, Taraknath Ghosh, Kaustav Nayak

  • 1Department of Pediatrics, Burdwan Medical College, Burdwan-713101, West Bengal, India. drasokdatta@yahoo.co.in.

Cases Journal
|September 20, 2008
PubMed

Insights

Menkes disease, a rare genetic disorder, was diagnosed in an infant presenting with seizures, developmental delay, and characteristic hair abnormalities. Low serum copper and ceruloplasmin levels confirmed the diagnosis, highlighting the importance of early detection.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Menkes disease is an X-linked recessive disorder affecting copper metabolism.
  • It typically presents in infancy with neurological and connective tissue abnormalities.
  • Protein energy malnutrition can exacerbate or mimic symptoms of genetic disorders.

Purpose of the Study:

  • To report a case of Menkes disease in an infant with protein energy malnutrition.
  • To highlight the diagnostic challenges and key clinical and biochemical findings.
  • To emphasize the importance of recognizing pili torti and low copper levels.

Main Methods:

  • Clinical examination of an eight-month-old male infant.
  • Biochemical analysis including serum copper and ceruloplasmin levels.
  • Neuroimaging with MRI and MR angiography.
  • Microscopic examination of hair for pili torti.

Main Results:

  • The infant presented with seizures, cough, cold, hypotonia, and mental retardation.
  • Characteristic sparse, fuzzy, wooly hair and pili torti were observed.
  • Low serum copper and ceruloplasmin levels were detected.
  • MRI revealed prominent extraaxial spaces with gliosis; MR angiography showed cerebral vessel tortuosity.

Conclusions:

  • The clinical, biochemical, and radiological findings were consistent with Menkes disease.
  • Protein energy malnutrition complicated the clinical presentation.
  • Early diagnosis and symptomatic treatment are crucial, though genetic confirmation was not feasible in this case.

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