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Een zuigeling zonder subcutaan vet: berardinelli-seip-syndroom

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Tijdschrift voor Kindergeneeskunde

Samenvatting

Een zeven dagen oude neonaat, zoon van Turkse consanguïene ouders, presenteerde zich met een opvallende afwezigheid van subcutaan vetweefsel. Hij had hepatomegalie, hyperglykemie, insulineresistentie, hypertriglyceridemie en een onmeetbaar laag leptine. De diagnose congenitale gegeneraliseerde lipodystrofie (CGL) ook berardinelli-seip-syndroom genoemd, werd gesteld. Een nieuwe mutatie in het seipine-gen werd gevonden. De behandeling bestaat uit een zeer sterk vetbeperkt dieet en bloedsuikerverlagende medicijnen.

Summary

A seven days old male child of consanguineous Turkish parents presented with a prominent lack of subcutaneous adipose tissue. He had hepatomegaly, hyperglycemia, insulin resistance, high serum triglyceride concentrations and an immeasurable serum leptin concentration. The diagnosis of congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip syndrome was made. A new mutation in the seipin gene was found. Treatment consisted in a low fat diet and insulin.

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Authors and Affiliations

  1. www.bsl.nl

    P. Beijer &  Th.A.M. van den Hurk

  2. Wilhelmina Kinderziekenhuis, Utrecht, The Nederlands

    M.A.M.J. de Vroede

  3. Catharina Ziekenhuis, Eindhoven, The Nederlands

    R.J. Odink

Authors
  1. P. Beijer
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  2. Th.A.M. van den Hurk
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  3. M.A.M.J. de Vroede
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  4. R.J. Odink
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Additional information

arts-assistent kindergeneeskunde, diëtist, kinderarts-endocrinoloog

Correspondentieadres: Dr. M.A.M.J. de Vroede, Wilhelmina Kinderziekenhuis, Postbus 85090, 3508 AB Utrecht

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Beijer, P., van den Hurk, T., de Vroede, M. et al. Een zuigeling zonder subcutaan vet: berardinelli-seip-syndroom. TIJDSCHR. KINDERGENEESKUNDE 78, 33–36 (2010). https://doi.org/10.1007/s12456-010-0009-0

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  • DOI: https://doi.org/10.1007/s12456-010-0009-0

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