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Neuropediatrics 2007; 38(2): 100-104
DOI: 10.1055/s-2007-985139
Short Communication

Georg Thieme Verlag KG Stuttgart · New York

Progressive Unilateral Hemispheric Atrophy in an Infant with Neurofibromatosis

P. Wintermark 1 , K. Meagher-Villemure 2 , J.-G. Villemure 3 , M. Maeder-Ingvar 4 , P. Maeder 5 , S. Ghariani 1 , E. Roulet-Perez 1
  • 1Unit of Pediatric Neurology and Rehabilitation, Medico-Surgical Department of Pediatrics, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland
  • 2Unit of Pedopathology, Institute of Pathology, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland
  • 3Department of Neurosurgery, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland
  • 4Department of Neurology, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland
  • 5Unit of Neuroradiology, Department of Radiology, University Hospital (CHUV) and Lausanne Medical School, Lausanne, Switzerland
Further Information

Publication History

received 26.2.2007

accepted 20.6.2007

Publication Date:
22 August 2007 (online)

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Abstract

Introduction: Cerebrovascular diseases are rarely seen in neurofibromatosis type 1. These include vascular occlusive disease, moyamoya vessels, aneurysms, arteriovenous malformations and fistulae.

Case Report: We describe the case of an infant with genetically proven neurofibromatosis type 1 and progressive brain hemiatrophy over months, due to primary narrowing of intracranial carotid artery branches, as demonstrated by successive brain imaging. She presented with refractory seizures and a progressive hemiparesis associated with developmental delay. Surgical material from hemispherotomy done at 18 months showed severe abnormalities of the small vessels.

Conclusion: Cerebrovascular changes seen in neurofibromatosis can be diffuse and progressive, with secondary hemiparesis, epilepsy and developmental delay.

Key words

Neurofibromatosis - brain - hemispheric atrophy - buphthalmos - vasculopathy - hemispherotomy

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Correspondence

P. WintermarkMD 

Unit of Pediatric Neurology and Rehabilitation

Medico-Surgical Department of Pediatrics

University Hospital and Lausanne Medical School (CHUV)

1011 Lausanne

Switzerland

Phone: +41/21/314 35 64

Fax: +41/21/314 35 72

Email: Pia.Wintermark@bluemail.ch