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Neuropediatrics 2002; 33(2): 69-72
DOI: 10.1055/s-2002-32366
Original Article

Georg Thieme Verlag Stuttgart · New York

Dysarthria, Progressive Parkinsonian Features and Symmetric Necrosis of Putamen in a Family with Painful Lipomas (Dercum Disease Variant)

M. Kyllerman1 , G. Brandberg2 , L.-M. Wiklund3 , J.-E. Månsson4
  • 1 Section of Neuropediatrics, The Queen Silvia Children's Hospital, Göteborg, Sweden
  • 2 Department of Pediatrics/Child Habilitation Unit, Central Hospital, Falun, Sweden
  • 3 Department of Pediatric Radiology, The Queen Silvia Children's Hospital, Göteborg, Sweden
  • 4 Clinical Chemistry/Laboratory of Neurochemistry, Mölndal Hospital at Sahlgenska University, Göteborg, Sweden
Further Information

Publication History

Publication Date:
20 June 2002 (online)

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Abstract

We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.

Key words

Dercum's Disease - Extrapyramidal Disorder - Dysarthria - Childhood

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M.D., Ph.D. M. Kyllerman

Göteborg University, The Queen Silvia Children's Hospital, Section of Neuropediatrics

SU/Östra

416 85 Göteborg

Sweden

Email: marten.kyllerman@vgregion.se