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
