Menkes Disease Presenting with Epilepsia Partialis Continua

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.

Neuroimaging Changes in Menkes Disease, Part 1

“…According to other authors, these lesions would result from ischemic phenomena caused by vascular anomalies. 1,4,7,8,19,22,24 The association between intracranial artery tortuosity and nontumefactive white matter lesions found in the present study seems to support a possible link between the processes leading to vascular wall abnormalities and white matter involvement. Nonetheless, because tortuosity changes do not seem to be associated with artery lumen changes, the ischemic hypothesis remains aleatory; moreover, focal white matter lesions do not cluster in specific vascular territories, and both the literature review and our sample analysis did not detect any lesion with DWI features of acute ischemia.…”

Acute hemichorea in a newly diagnosed type II diabetes patient: a diagnostic challenge in resource-limited setting: a case report

“…CT imaging among patients with chorea due to hyperglycaemia has been reported to be normal in previous studies. Though MRI was not done in our case, in other studies it has shown hyperintesity in the left basal ganglion [15]. We believe, many cases are misdiagnosed and given neuroleptic and anti-epileptic drugs unnecessarily, which can cause significant morbidity and even mortality [16].…”

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

“…The compendium of curated variants encompasses a total of 602 variant entries in the ATP7A gene. These variants were derived from a total of 64 publications [6] , [8] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] , [45] , [46] , [47] , [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] , [67] , [68] , [69] , [70] , [71] , [72] , [73] , [74] , [75] , [76] , [77] , [78] , [79] , [80] , [81] , [82] and encompassed variants reported from 17 countries. Of the total compendium of variants, a total of 404 variants were unique and a large majority of variants mapped to exons 18,18% (328/404), while a small number were intronic 12% (49/404), splicing 6.18% (25/404) and UTR 0...…”