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Menkes kinky hair disease: an unusual case
S Jayawant1, S Halpin, S Wallace
1Department of Child Health, University Hospital of Wales, Cardiff, UK.
Abstract:
Menkes disease is a rare X-linked recessive disease of copper metabolism. Clinical manifestations begin in the first few months of life or even in the neonatal period. Hypothermia, hypotonia, poor weight gain, seizures and neurodevelopmental delay or regression are seen. Outcome is poor, with death occurring usually by 3 years of age. A characteristic facial appearance with steely hair suggest the diagnosis. Neuroimaging usually shows cortical atrophy, extra-axial fluid collections and progressive and extensive degeneration of grey matter with secondary demyelination. We describe an atypical, but biochemically proven case of Menkes disease with atypical clinical and radiological features. Our patient had a large head, atypical electron microscopy appearances of the hair and predominant diffuse white matter involvement on neuroimaging, but a low serum copper level and a high 64CU uptake in fibroblasts (89.5 ng/mg of protein) confirmed the diagnosis.
Insights
Menkes disease, a rare X-linked copper metabolism disorder, typically presents in infancy. This case highlights atypical features, confirming diagnosis through biochemical markers despite unusual clinical and imaging findings.
Area of Science:
- Genetics
- Biochemistry
- Neurology
Background:
- Menkes disease is a rare, X-linked recessive disorder affecting copper metabolism.
- It typically manifests in early infancy with severe neurological and developmental issues.
- Characteristic features include steely hair, hypothermia, hypotonia, and seizures, often leading to early mortality.
Observation:
- This report details an atypical case of biochemically confirmed Menkes disease.
- The patient presented with macrocephaly, unusual hair microscopy, and predominantly diffuse white matter abnormalities on neuroimaging.
- These features deviated from the typical presentation of cortical atrophy and grey matter degeneration.
Findings:
- Biochemical confirmation was achieved through a low serum copper level.
- Elevated 64CU uptake in fibroblasts (89.5 ng/mg protein) further supported the diagnosis.
- The atypical radiological findings included diffuse white matter involvement, differing from classic Menkes presentations.
Implications:
- This case expands the spectrum of clinical and radiological presentations of Menkes disease.
- It underscores the importance of biochemical testing for accurate diagnosis, especially in atypical cases.
- Recognizing these variations is crucial for timely diagnosis and management of Menkes disease.