Work

Neuroimaging in Menkes disease

Year: 2017

Type: article

Abstract: 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.

Source: Journal of Pediatric Neurosciences

DOI: 10.4103/jpn.jpn_20_17

Authors: MollaI. Ahmed, Nahin Hussain

Institution: Leicester Royal Infirmary

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2793265232

FWCI: 0.131

Cites: 17

Cited by: 7

Related to: 10