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Rehabilitation Practice and Science

Translated Title

腦顱皮膚脂肪增多症引起嬰兒之雙上肢無力：病例報告

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a very rare neurocutaneous syndrome with hallmark lesions including cranial lipomas, ocular lipodermoids and brain abnormalities. ECCL was first described by Haberland and Perou in 1970, and it is sometimes referred to as Haberland syndrome. The genetics of ECCL are unknown, however it is generally considered to be a genetically mosaic condition. Herein, we report the case of a 20-day-old infant girl who presented with weakness of bilateral upper limbs since birth. Subcutaneous masses over her right cheek, eye, inguinal area and limbs were also noted on examination. Brain and spinal magnetic resonance imaging revealed intradural and intramedullary spinal lipomatosis from C0 to T9 as well as lipomas in the right cerebellopontine angle and middle fossa region. The clinical manifestations were compatible with ECCL. The patient underwent posterior decompressive suboccupital craniectomy and laminectomy from C1 to T9 to remove the intramedullary lipomas at one month of age, and the subsequent pathological findings consisted of lipomas. Postoperatively, the weakness of both upper limbs gradually recovered. The patient received physical therapy and occupational therapy for more than one year. However, a delayed development of motor skills was still diagnosed at 20 months of age. Although lipomas in the central nerve system are non-progressive benign tumors, they may cause epilepsy, delayed psychomotor development and motor impairment. Long-term monitoring of these patients for clinical manifestations is advised. Conditions such as hydrocephalus, cervicomedullary compression, tethered cord and scoliosis may be indications for surgery during the patients' lifetime. We present the clinical findings of ECCL and reviewarticle the related literature.

Language

Traditional Chinese

First Page

129

Last Page

133

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