Menkes disease (MD) is an infantile-onset, X-linked recessive neurodegenerative disorder (ATP7A gene on chromosome Xq21.1) in which copper transport and connective tissue arrangement is disturbed11. Kim BE, Petris MJ. Phenotypic diversity of menkes disease in mottled mice is associated with defects in localisation and trafficking of the atp7a protein. J Med Genet 2007;44:641-646.. Variable MD phenotypes are strictly related to abnormal collagen and elastin formation that are more due to the lysyl-oxidase deficiency, which results in skin and hair alterations associated with tortuous and elongated intracranial vessels, in addition to bladder diverticula and bony abnormalities11. Kim BE, Petris MJ. Phenotypic diversity of menkes disease in mottled mice is associated with defects in localisation and trafficking of the atp7a protein. J Med Genet 2007;44:641-646.,22. Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in menkes disease. J Neuroimag 2011;21:e114-116.,33. Amador E, Domene R, Fuentes C, Carreno JC, Enriquez G. Long-term skeletal findings in menkes disease. Pediatric Radiol 2010;40:1426-1429..
When imaging suggests MD, laboratory results are used to confirm the diagnosis (Figure). Genetic counseling and early treatment with daily copper injections is suggested to improve outcomes for this rare disease22. Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in menkes disease. J Neuroimag 2011;21:e114-116.,33. Amador E, Domene R, Fuentes C, Carreno JC, Enriquez G. Long-term skeletal findings in menkes disease. Pediatric Radiol 2010;40:1426-1429.,44. Arita JH, Faria EC, Peruchi MM, Lin J, Rodrigues Masruha M, Vilanova LC. Menkes disease as a differential diagnosis of child abuse. Arq Neuropsiquiatr 2009;67:507-509..
. A 9-month-old boy presented with hypotonia, seizures, developmental delay, failure to thrive and hypopigmented skin and hair (copper=99.8 ug/dL (l83-152 ug/dL) and ceruloplasmin=4 mg/dL (20-60 mg/dL)). Axial T1WI (A) showed brain atrophy associated to left parietal subdural hemorrhage (arrowhead). Kinking and coiling of the intracranial vessels were depicted on MR angiography (B). Plain radiograph (frontal view) of the left lower limb (C) showed femoral and tibial metaphyseal spurs (arrowhead). In scalp hairs, regularly spaced twists compatible with pili torti (D) and nodes of trichorrhexis-nodosa (E) were also observed (arrowhead).
References
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1Kim BE, Petris MJ. Phenotypic diversity of menkes disease in mottled mice is associated with defects in localisation and trafficking of the atp7a protein. J Med Genet 2007;44:641-646.
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2Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in menkes disease. J Neuroimag 2011;21:e114-116.
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3Amador E, Domene R, Fuentes C, Carreno JC, Enriquez G. Long-term skeletal findings in menkes disease. Pediatric Radiol 2010;40:1426-1429.
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4Arita JH, Faria EC, Peruchi MM, Lin J, Rodrigues Masruha M, Vilanova LC. Menkes disease as a differential diagnosis of child abuse. Arq Neuropsiquiatr 2009;67:507-509.
Publication Dates
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Publication in this collection
May 2014
History
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Received
16 Jan 2014 -
Reviewed
13 Feb 2014 -
Accepted
05 Mar 2014
