Menkes-Syndrom View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-09

AUTHORS

G. C. Korenke, I. Marquardt, L. B. Møller, N. Horn

ABSTRACT

Bei dem 3-jährigen Patienten wurde im Alter von 3 1/2 Monaten bei rezidivierenden Krampfanfällen aufgrund typischer klinischer Symptome ein Menkes-Syndrom diagnostiziert. Kupferaufnahmestudien in Fibroblasten und der Nachweis einer frühen Stoppmutation (S266X) im ATP7A-Gen sicherten die Diagnose. Nach ausführlichen Gesprächen entschlossen wir uns am Ende des 4. Lebensmonats zur Einleitung einer Kupferhistidinattherapie—trotz Berichten, die dies nach Vollendung des 2. Lebensmonats ablehnen, da die neurologische Entwicklung nicht mehr beeinflusst werden könne. Die neurologische und mentale Entwicklung haben sich danach kontinuierlich und deutlich gebessert. Ein zerebrales MRT im Alter von 35 Monaten zeigte eine rückläufige, nur geringe Erweiterung der äußeren Liquorräume. Klinisch standen urologische und gastrointestinale Symptome im Vordergrund. Auch bei einer Diagnosestellung im 3. und 4. Lebensmonat sollte eine Kupferhistidinattherapie erwogen und ggf. schnellstmöglichst eingeleitet werden. Eine kausale Behandlung der schwer wiegenden Bindegewebsstoffwechselstörung ist bisher noch nicht möglich. More... »

PAGES

864-870

Journal

TITLE

Monatsschrift Kinderheilkunde

ISSUE

9

VOLUME

153

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00112-003-0876-x

DOI

http://dx.doi.org/10.1007/s00112-003-0876-x

DIMENSIONS

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