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- W4248394510 abstract "Background: Encephalocraniocutaneous lipomatosis (ECCL) is a relatively new, nonhereditary, but congenital, neurocutaneous syndrome with unilateral cutaneous tumors and ipsilateral ophthalmologic and neurologic malformations. The syndrome is rare, with only 25 cases reported since first communication in 1970. The primary clinical features noted for almost all cases are as follows: (1) unilateral porencephalic cysts with cortical atrophy, (2) ipsilateral lipomatous hamartoma of the scalp, eyelids, and outer globe of the eye, (3) cranial asymmetry, (4) marked developmental delay and mental retardation, (5) seizures, and (6) spasticity of the contralateral limbs. Objective: We discuss underlying pathophysiology, diagnostic difficulties, differential diagnosis, and therapeutic possibilities of the syndrome. Conclusions: The syndrome seems to be more frequent than it was thought. ECCL may remain unrecognized, as some patients may not represent the full clinical spectrum of the disease. Periodic neurologic and cardiologic assessment with echocardiography and electrocardiography should be carried out in all patients with ECCL because of a possible progressive disease course." @default.
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- W4248394510 date "2003-02-01" @default.
- W4248394510 modified "2023-09-30" @default.
- W4248394510 title "Encephalocraniocutaneous Lipomatosis" @default.
- W4248394510 doi "https://doi.org/10.1007/s10227-002-1142-x" @default.
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