Elejalde Syndrome—A Melanolysosomal Neurocutaneous Syndrome
نویسندگان
چکیده
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 کاملElejalde syndrome: report of a case and review of the literature.
Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunol...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Dermatology
سال: 1999
ISSN: 0003-987X
DOI: 10.1001/archderm.135.2.182