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 dependant mitochondrial enzymes.
Menkes kinky hair syndrome is rare, occurring in 1 case per 300,000 population.
Their hair may be fine, silvery and brittle (kinky hair) and connective tissue disturbances lead to doughy 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 or "kinky hair, kinky vessel syndrome" is a multi-systemic disorder with an X linked inheritance, with 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 manifestation of Menkes syndrome are progressive cerebral and cerebellar atrophy, elongated and tortuous intracranial vessels as well as bilateral epidural collection or bleed.
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
It is lethal and the affected males typically die by the time they are aged 2-3 years. A pneumonia or respiratory infection is the usual cause of death. Treatment is mainly supportive.
Menkes disease may mimic non-accidental trauma (NAT) with retinal hemorrhage and bilateral subdural hematomas. Hence, prudence is advised in always ruling out NAT, particularly when other intracranial signs of Menkes disease are not seen. In a similar manner, the differential diagnosis also includes glutaric aciduria.
- 1. Leventer RJ, Kornberg AJ, Phelan EM et-al. Early magnetic resonance imaging findings in Menkes' disease. J. Child Neurol. 1997;12 (3): 222-4. doi:10.1177/088307389701200314 - Pubmed citation
- 2. Barkovich AJ, Good WV, Koch TK et-al. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol. 14 (5): 1119-37. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 3. 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
- 4. Thomas B, Al dossary N, Widjaja E. MRI of childhood epilepsy due to inborn errors of metabolism. AJR Am J Roentgenol. 2010;194 (5): W367-74. doi:10.2214/AJR.09.2948 - Pubmed citation
- 5. Takahashi S, Ishii K, Matsumoto K et-al. Cranial MRI and MR angiography in Menkes' syndrome. Neuroradiology. 1993;35 (7): 556-8. - Pubmed citation
- 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
Toxic and metabolic encephalopathies
- overview by region
- white matter
- grey matter
- by agent/substance
- by systemic illness
- overview by region
- by substance
- Wernicke encephalopathy (vitamin B1)
- by substance
- Kearns-Sayre syndrome
- Leigh syndrome
- mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)
- myoclonus epilepsy with ragged red fibres (MERRF)
- mitochondrial deletion syndromes
- progressive cerebral poliodystrophy (also known as Alpers syndrome)
- trichopoliodystrophy (also known as Menkes disease)