Das Menkes-Syndrom

Baerlocher, K; Nadal, David

doi:10.1007/978-3-642-73558-5_4

Cited by 2 publications

(2 citation statements)

References 160 publications

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“…Affected infants are healthy at birth and have early normal development for the first 2–4 months and then recognition of seizures and hypotonia and failure to thrive begin and they often die by the age of 3 years [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Menkes Disease Presenting with Epilepsia Partialis Continua

Rizk

Mahmoud

Jamali

et al. 2014

Case Reports in Neurological Medicine

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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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Section: Discussionmentioning

confidence: 99%

Menkes Disease Presenting with Epilepsia Partialis Continua

Rizk

Mahmoud

Jamali

et al. 2014

Case Reports in Neurological Medicine

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“…180.1B), in conjunction with typical neurological findings, often suggest the diagnosis. The presenting signs and symptoms of 127 patients reported in the medical literature up to 1985 were compiled (Baerlocher and Nadal, 1988). The less distinctive appearance of very young affected infants before the onset of symptoms, is discussed separately below.…”

Section: Wilson Diseasementioning

confidence: 99%

Inborn errors of copper metabolism

Kaler

2013

Handbook of Clinical Neurology

102

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SUMMARY Wilson disease, Menkes disease, occipital horn syndrome, and X-linked distal hereditary motor neuropathy are genetic disorders of copper metabolism that span a broad spectrum of neurological dysfunction (Table 180.1). The occurrence of these disorders indicates the fundamental importance of ATP7A and ATP7B. Further research to clarify the mechanisms suggested by these clinical and biochemical phenotypes may yield insight about the roles of ATP7A and ATP7B in neuronal cells, and lead to improved treatments.

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Das Menkes-Syndrom

Cited by 2 publications

References 160 publications

Menkes Disease Presenting with Epilepsia Partialis Continua

Menkes Disease Presenting with Epilepsia Partialis Continua

Inborn errors of copper metabolism

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