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[Menke's disease. A case report (author's transl)]
Anales Espanoles De Pediatria
|February 1, 1977
Abstract:
A seven month old male with Menkes' disease ("Kinky hair") is presented. Low ranges of copper and caeruloplasmin were found. The angiogram of all intracranial arteries revealed torturous form. Biopsy of an extracranial artery (branch of the temporal artery) was normal. Authors review previously reported cases and possible causes that can contribute to hypomyelination of central nervous system.
Insights
Menkes disease, a rare genetic disorder, presents with low copper and torturous intracranial arteries in a 7-month-old male. While extracranial arteries appear normal, the condition may contribute to central nervous system hypomyelination.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Menkes disease is a rare X-linked recessive disorder caused by mutations in the ATP7A gene, leading to impaired copper transport.
- Copper is essential for various enzymes involved in brain development, including those crucial for myelination.
- Hypomyelination, a hallmark of Menkes disease, results in neurological deficits due to insufficient myelin sheath formation.
Observation:
- A 7-month-old male diagnosed with Menkes disease exhibited characteristic symptoms.
- Biochemical analysis revealed significantly low serum copper and ceruloplasmin levels.
- Cerebral angiography demonstrated tortuosity in all intracranial arteries.
Findings:
- Despite the intracranial vascular abnormalities, a biopsy of an extracranial artery (temporal artery branch) showed normal histology.
- The study highlights the specific pattern of vascular involvement in Menkes disease, predominantly affecting intracranial vessels.
- The findings correlate with known copper deficiency-induced effects on connective tissue and vascular integrity.
Implications:
- This case underscores the importance of early diagnosis and management of Menkes disease to mitigate neurological damage.
- Understanding the vascular manifestations, particularly intracranial tortuosity, may aid in diagnosing and predicting disease progression.
- Further research into the mechanisms linking copper deficiency to hypomyelination and vascular abnormalities is warranted.