Citation, DOI and article data
Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.
Menkes disease is rare, occurring in 1 case per 300,000 population.
Signs and symptoms typically appear in infancy. Hair may be fine, silvery and brittle (kinky hair) and connective tissue disturbances lead to loose skin.
There is progressive neurologic deterioration: seizures usually begin in the first few days or months of life with progressive hypotonia and developmental delay in the first year of life.
Menkes disease is a multisystem disorder with an X-linked recessive inheritance, caused by mutation of the gene ATP7A located on Xq13.3. Two-thirds of patients have a positive family history, while the other one-third of patients have spontaneous mutations.
- metaphyseal widening of the femur and ribs
- tibial and femoral spurs
- Wormian bones
Brain manifestations of Menkes syndrome are progressive cerebral and cerebellar atrophy, elongated and tortuous intracranial vessels as well as bilateral epidural collections or bleeds.
At birth, the brain often appears normal on MR images.
During the course of the disease, however, rapidly developing cerebral and cerebellar atrophy and prominent white matter changes can occur 4.
- T1: can show hyperintensity of the basal ganglia similar to that of chronic hepatic encephalopathy
- MR angiography: cerebral vessels usually are tortuous and elongated on MR angiograms 4-6
Chronic bilateral subdural hematomas also may be visualized.
Treatment and prognosis
The condition is lethal and affected males typically die by age 2-3 years. Pneumonia or respiratory infection is the usual cause of death. Treatment is mainly supportive.
History and etymology
Menkes disease is named after the American physician John H Menkes (1928-2008) 7.
Menkes disease may mimic non-accidental injury (NAI) with retinal hemorrhage and bilateral subdural hematomas. Hence, prudence is advised in always ruling out NAI, particularly when other intracranial signs of Menkes disease are not seen. In a similar manner, the differential diagnosis also includes glutaric aciduria.
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- 6. Jacobs DS, Smith AS, Finelli DA et-al. Menkes kinky hair disease: characteristic MR angiographic findings. AJNR Am J Neuroradiol. 14 (5): 1160-3. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 7. Patel P, Prabhu AV, Benedek TG. The History of John Hans Menkes and Kinky Hair Syndrome. JAMA Dermatol. 2017;153(1):54. doi:10.1001/jamadermatol.2016.0163
- 8. Gandhi R, Kakkar R, Rajan S, Bhangale R, Desai S. Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease. Case Reports in Radiology. 2012;2012:1-4. doi:10.1155/2012/684309 - Pubmed