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Neuropediatrics 2007; 38(4): 204-206
DOI: 10.1055/s-2007-991149
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Atypical Presentation of Prader-Willi Syndrome with Cerebral Venous Thrombosis: Association or Fortuity?

L. Beretta 1 , M. Hauschild 1 , P.-Y. Jeannet 2 , M.-C. Addor 3 , P. Maeder 4 , A. C. Truttmann 1
  • 1Division of Neonatology, Department of Pediatrics and Pediatric Surgery, University Hospital Center and University of Lausanne, Lausanne, Switzerland
  • 2Division of Neuropediatrics, Department of Pediatrics and Pediatric Surgery, University Hospital Center and University of Lausanne, Lausanne, Switzerland
  • 3Unit of Medical Genetics, University Hospital Center and University of Lausanne, Lausanne, Switzerland
  • 4Unit of Magnetic Resonance Imaging, University Hospital Center and University of Lausanne, Lausanne, Switzerland
Further Information

Publication History

received 10.05.2007

accepted 05.09.2007

Publication Date:
04 December 2007 (online)

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Abstract

A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thrombotic studies revealed a transiently decreased PTT consistent with a prothrombotic state. The hypotonia did not resolve after the acute phase as expected, raising the possibility of another underlying cause. Because of a peculiar phenotype with almond-shaped eyes and bitemporal depression, Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS, FISH analysis excluded a deletion in 15q11-q13, maternal uniparental disomy (UPD) was confirmed. To our knowledge, this is the first report of the association of a neonatal venous thrombosis and a PW Syndrome.

Key words

neonatal cerebral thrombosis - floppy infant syndrome - Prader-Willi syndrome

References

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Correspondence

Dr. med. A. C. Truttmann

Division of Neonatology

Department of Pediatrics and Pediatric Surgery

University Hospital Center and University of Lausanne

1011 Lausanne

Switzerland

Phone: +41/21/314 34 47

Fax: +41/21/314 34 77

Email: anita.truttmann@chuv.ch