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 CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 4  |  Page : 378-382

Neuroimaging in Menkes disease


1 Department of Paediatrics, Leicester, United Kingdom
2 Leicester Royal Infirmary, University Hospitals of Leicester, Leicester, United Kingdom

Correspondence Address:
Dr. Molla I. Ahmed
Department of Paediatrics, Leicester Royal Infirmary, Infirmary Square, Leicester LE 1 5WW
United Kingdom
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_20_17

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Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. We report the spectrum of neuro-radiological findings in three affected boys being treated at our centre. We suggest that magnetic resonance imaging (MRI) and, in particular magnetic resonance angiography (MRA) when taken in the context of the clinical presentation may be helpful in making an early diagnosis of this devastating condition.






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