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“From Sheep to Babe” - Menkes Disease

Published online by Cambridge University Press:  02 December 2014

Alice Ho ,
Jean Mah ,
Robin Casey  and
Penney Gaul
Alice Ho
Affiliation:
Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada
Jean Mah
Affiliation:
Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada
Robin Casey
Affiliation:
Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
Penney Gaul
Affiliation:
Department of Diagnostic Imaging, University of Calgary, Calgary, Alberta, Canada
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Abstract

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A four-month-old boy presented with a new onset focal seizure lasting 18 minutes. During the seizure, his head and eyes were deviated to the left, and he assumed a fencing posture to the left with pursing of his lips. He had been unwell for one week, with episodes of poor feeding, during which he would become unresponsive, limp and stare for a few seconds. Developmentally he was delayed. He was not yet rolling, and he had only just begun to lift his head in prone position. He could grasp but was not reaching or bringing his hands together at the midline. He was cooing but not laughing. His past medical history was significant for term delivery with fetal distress and meconium staining. He was flat and blue at birth, with birth weight of 3.5 kg, and Apgar scores of 1 at one minute, 4 at 5 minutes, and 8 at 10 minutes. He required resuscitation with positive pressure ventilation for two minutes, and then had no further postnatal complications. Family history was remarkable for a paternal cousin with cortical malformation, epilepsy, and developmental delay. His mother and maternal grandmother had migraine headaches and fibromyalgia.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 30 , Issue 4 , November 2003 , pp. 358 - 360
Copyright
Copyright © The Canadian Journal of Neurological 2003

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