Open AccessNeuroimaging in Menkes disease
Author(s) -
Molla Imaduddin Ahmed,
Nahin Hussain
Publication year - 2017
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_20_17
Subject(s) - medicine , menkes disease , magnetic resonance imaging , context (archaeology) , neuroimaging , psychomotor learning , psychomotor retardation , radiological weapon , disease , presentation (obstetrics) , radiology , pediatrics , pathology , psychiatry , copper metabolism , paleontology , chemistry , cognition , alternative medicine , organic chemistry , copper , biology
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.