منابع مشابه
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...
متن کاملEpileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome.
Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major caus...
متن کاملNeurocutaneous melanosis
Radiol Bras. 2016 Nov/Dez;49(6):406–413 412 http://dx.doi.org/10.1590/0100-3984.2015.0139 the lesions by the paramagnetic contrast agent. Examination of the cerebrospinal fluid showed that there was no infection with Cryptococcus or any other agents, indicating an effective response to the treatment. The combination of clinical and radiological worsening, despite an effective treatment response...
متن کامل5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, a...
متن کاملMR of neurocutaneous melanosis.
PURPOSE To describe the MR findings of neurocutaneous melanosis in the brain and correlate these with the known pathology and proposed embryologic basis of this disorder. METHODS The brain (seven patients) and spine (three patients) MR scans of seven patients with neurocutaneous melanosis were retrospectively reviewed. In two patients, findings were confirmed at surgery. The pattern of centra...
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ژورنال
عنوان ژورنال: Pediatric Oncall
سال: 2014
ISSN: 0973-0966
DOI: 10.7199/ped.oncall.2014.44