Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9-year-old girl developed a progressive unsteady gait for one month. Hyperactive reflexes of the four extremities and a spasticity of the lower extremities were found. Bilateral Babinski responses were elicited. An intradural extramedullary mass of upper thoracic spinal cord was demonstrated using magnetic resonance imaging and was confirmed as an intradural extramedullary epidermoid cyst at surgery. This epidermoid cyst was from congenital origin. No congenital anomalies such as spina bifida or dermal sinus were associated. The epidemiology, clinical features, radiology, surgical treatment and pathology of this benign tumor are discussed.
 ...
PMID:Intradural extramedullary epidermoid cyst of the spinal canal: report of one case. 875 81

BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. CASE REPORT An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. CONCLUSIONS There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.
 ...
PMID:Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. 2919 35