Menkes kinky hair disease: A case report
2008
Case Report of Menkes Kinky Hair Disease
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Datta Asok K, Ghosh Taraknath, Nayak Kaustav, Ghosh Mrinalkanti
Primary Institution: Burdwan Medical College
Conclusion
The infant was diagnosed with Menkes disease and treated symptomatically due to the lack of facilities for genetic study.
Supporting Evidence
- The infant presented with symptoms including convulsions, respiratory difficulties, and developmental delays.
- Low serum copper and ceruloplasmin levels were found, which are characteristic of Menkes disease.
- Microscopic examination of hair revealed pili torti, a sign of Menkes disease.
- MRI showed prominent extra-axial spaces and tortuosity of cerebral vessels.
Takeaway
A baby with a rare disease called Menkes disease has problems with copper in his body, which makes him very sick and causes his hair to look different.
Methodology
The infant was examined clinically and through various investigations including MRI, serum copper, and ceruloplasmin levels.
Limitations
Genetic studies could not be performed due to lack of facilities.
Participant Demographics
An eight-month-old male infant from a rural area in India, from a non-consanguineous marriage.
Digital Object Identifier (DOI)
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