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Atypical Menkes steely hair disease
J A Westman1, D C Richardson, O M Rennert
1Ohio State University College of Medicine, Department of Pediatrics, Columbus.
American Journal of Medical Genetics
|July 1, 1988
Abstract:
Menkes steely hair disease (MSHD) is a rare disorder which typically results in severe mental retardation and death in early childhood. A 21-month-old boy with an atypical milder form was presented by Procopis et al. [1981]. A second child with the atypical form is presented here who has survived to age 9 years and is doing well clinically.
Insights
Menkes steely hair disease (MSHD) is a rare genetic disorder. This report details a child with a milder MSHD form, surviving to age 9 and in good health.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Menkes steely hair disease (MSHD) is a rare X-linked genetic disorder.
- Typically characterized by severe neurodevelopmental impairment and early mortality.
- Caused by mutations in the copper-transporting ATPase gene ATP7A.
Observation:
- A case of a male infant with an atypical, milder form of MSHD is presented.
- This patient exhibited a less severe clinical presentation compared to classic MSHD.
- Previous reports documented a similar atypical case in 1981.
Findings:
- The presented child with atypical MSHD has survived to 9 years of age.
- The patient is reported to be doing well clinically.
- This suggests a potentially better prognosis for certain MSHD variants.
Implications:
- Highlights the phenotypic variability within Menkes steely hair disease.
- Suggests that genetic testing and early identification are crucial for managing MSHD.
- Informs prognosis and potential therapeutic strategies for atypical MSHD cases.