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. 2014:2014:525784.
doi: 10.1155/2014/525784. Epub 2014 Nov 23.

Menkes disease presenting with epilepsia partialis continua

Tamer Rizk  1 , Adel Mahmoud  2 , Tahani Jamali  2 , Salah Al-Mubarak  3
Affiliations

Menkes disease presenting with epilepsia partialis continua

Tamer Rizk et al. Case Rep Neurol Med. 2014.

Abstract

Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

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Figures

Figure 1
Figure 1
Brain magnetic resonance imaging (MRI) showed cortical and cerebellar atrophy, right-sided subdural collection noted over the right frontal and parietal convexity.
Figure 2
Figure 2
White matter T2 hyperintensity involving the centrum semiovale and the occipital lobes.
Figure 3
Figure 3
Magnetic resonance angiography (MRA) showed relatively tortuous but patent intracranial vessels, with appearance of “hair pin” sign.
Figure 4
Figure 4
Magnetic resonance spectroscopy (MRS) obtained at the level of internal capsule demonstrated low choline peak.
Figure 5
Figure 5
Magnetic resonance spectroscopy (MRS) obtained at the level of the parietal white matter demonstrated reduced N-acetyl aspartate peak at indicating neuronal loss.
See this image and copyright information in PMC

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