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Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann

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Tijdschrift voor kindergeneeskunde

Summary

A newborn baby presented with asphyxia and a severe congenital heart malformation. In the clinical course congenital contractures and scarcity of spontaneous movements appeared. Post mortem, the diagnosis sma type 1, Werdnig-Hoffmann's disease, was made by demonstrating a homozygous smn1 deletion in dna from stored tissue. The combination sma type 1 and a congenital heart malformation is known in the medical literature, of which an overview is given. Paediatricians have to be alert on concurring (neurological) symptoms in a child with a congenital heart defect to make this diagnosis, which has important genetic consequences for the parents.

Samenvatting

Wij beschrijven een pasgeborene die zich presenteerde met asfyxie en een ernstige aangeboren hartafwijking. In het beloop bleek er daarnaast sprake te zijn van bewegingsarmoede en congenitale contracturen. Na het overlijden werd door middel van dna-diagnostiek de diagnose sma type 1, de ziekte van Werdnig-Hoffman, gesteld. De combinatie sma type 1 met een congenitale hartafwijking is bekend uit de medische literatuur, waarvan wij een overzicht geven. Kinderartsen dienen ook bij een kind met een congenitale hartafwijking alert te zijn op bijkomende (neurologische) verschijnselen. Het stellen van de diagnose sma type 1 heeft belangrijke genetische consequenties voor de ouders.

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Authors and Affiliations

  1. www.kindergeneeskunde.bsl.nl

    L. A. Menke, B. T. Poll-The, J. M. Rozemuller, S. M. LoaNjoe, H. H. Lemmink & J. M. Cobben

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  1. L. A. Menke
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  2. B. T. Poll-The
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  3. J. M. Rozemuller
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  4. S. M. LoaNjoe
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  5. H. H. Lemmink
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  6. J. M. Cobben
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Additional information

Mw. drs. L.A. Menke, mw. prof. dr. B.T. Poll-The, mw. drs. S.M. LoaNjoe, dr. J.M. Cobben, afdeling Kindergeneeskunde, Emma Kinderziekenhuis, amc, Amsterdam. Mw. dr. J.M. Rozemuller, afdeling Pathologische Anatomie, amc, Amsterdam. Dr. H.H. Lemmink, Vakgroep Klinische Genetica, umcg, Groningen.

Correspondentieadres: Dr. J.M. Cobben, afdeling Kindergeneeskunde, Emma kinderziekenhuis, amc, Meibergdreef 9, 1105 AZ?Amsterdam, tel: 020-5667508, fax: 020-6917735, e-mail: j.m.cobben@amc.uva.nl.

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Menke, L.A., Poll-The, B.T., Rozemuller, J.M. et al. Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann. KIND 74, 214–217 (2006). https://doi.org/10.1007/BF03061635

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  • DOI: https://doi.org/10.1007/BF03061635

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