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Variability in clinical expression of Menkes syndrome

✍ Scribed by A.-M. Gerdes; T. Tønnesen; E. Pergament; C. Sander; K. E. Baerlocher; R. Wartha; F. Güttler; N. Horn

Publisher
Springer
Year
1988
Tongue
English
Weight
341 KB
Volume
148
Category
Article
ISSN
0340-6997

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✦ Synopsis

Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.

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✍ Abusaad, Iman; Mohammed, Shehla N.; Ogilvie, Caroline Mackie; Ritchie, Jane; Poh 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3)