Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation. An 8.5-year-old girl was initially investigated at the age of 18 months for congenital bilateral aniridia, cataracts, glaucoma and epicantus. The ultrasound (US) scan showed polycystic kidney disease. FISH study revealed deletion of the WT1 and PAX6 gene in the 11p13 WAGR region. Forty days after the first kidney US, the second US revealed a 3 cm tumor in the right kidney: a Wilms tumour, treated successfully with the Wilm's tumor protocol. The authors conclude that the identification of the deletions in the WAGR region in patients with aniridia should definitely be done. In addition, Wilms tumor can have a very rapid growth, which, per se requires frequent and careful ultrasound kidney controls. Polycystic kidneys can be part of the WAGR presentation.
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PMID:Billateral polycystic kidneys in a girl with WAGR syndrome. 2166 Apr 3

Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular trafficking. Despite extensive studies, it is unclear how OCRL mutations result in a myriad of phenotypes found in Lowe syndrome. Our results show that OCRL localizes to the primary cilium of retinal pigment epithelial cells, fibroblasts and kidney tubular cells. Lowe syndrome-associated mutations in OCRL result in shortened cilia and this phenotype can be rescued by the introduction of wild-type OCRL; in vivo, knockdown of ocrl in zebrafish embryos results in defective cilia formation in Kupffer vesicles and cilia-dependent phenotypes. Cumulatively, our data provide evidence for a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome.
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PMID:OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. 2254 76

Sturge-Weber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, stroke-like episodes, and mental retardation. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with Sturge-Weber syndrome followed up from January 1985 to May 2010. Of the patients, 15 were males, age at diagnosis ranged from 1 month to 43 years. Typical port-wine stain nevus occurred in 26 (86%), it was bilateral in 2 (8%), and it was absent in 4 (4%). Nine patients had glaucoma (30%), 3 required surgery. Four had transient hemiparesis. All patients had seizures; they were well controlled in 22 (73.3%); in 8 they remained drug resistant. Three patients underwent surgery and became seizure-free. Of the 17 who had mental subnormality, 14 (82.4%) had seizure onset before 2 years. An early age at seizure onset and those with drug-resistant seizures had more severe degree of mental subnormality. Uncontrolled seizures, mental subnormality, visual handicap, and cosmetic disfiguration were the major impediments in life.
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PMID:Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. 2283 77

Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.
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PMID:Periodontal management of sturge-weber syndrome. 2376 44

Submicroscopic deletion of the 6p subtelomere has recently been recognized as a clinically identifiable syndrome. A distinct phenotype has emerged consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities, including hypertelorism, midface hypoplasia, small nose, and high arched palate. We describe here a patient with 6p subtelomere deletion associated with congenital glaucoma, severe mental retardation, and growth impairment. Fluorescent in situ hybridization analysis revealed only one 6p25.3 signal. Array comparative genomic hybridization assay showed 2.1 Mb deletion and 4.14 Mb duplication in the 6p25 region. Generally, developmental delay and language impairment are common findings in patients with 6p subtelomere deletion syndrome, but growth impairment is not. Compared to that, the present patient showed atypically severe developmental delay and growth impairment.
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PMID:6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment. 2378 70

Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents with congenital cataracts, glaucoma, renal dysfunction and mental retardation. INPP5B is a paralog of OCRL and shares similar structural domains. The roles of OCRL and INPP5B in the development of cataracts and glaucoma are not understood. Using ocular tissues, this study finds low levels of INPP5B present in human trabecular meshwork but high levels in murine trabecular meshwork. In contrast, OCRL is localized in the trabecular meshwork and Schlemm's canal endothelial cells in both human and murine eyes. In cultured human retinal pigmented epithelial cells, INPP5B was observed in the primary cilia. A functional role for INPP5B is revealed by defects in cilia formation in cells with silenced expression of INPP5B. This is further supported by the defective cilia formation in zebrafish Kupffer's vesicles and in cilia-dependent melanosome transport assays in inpp5b morphants. Taken together, this study indicates that OCRL and INPP5B are differentially expressed in the human and murine eyes, and play compensatory roles in cilia development.
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PMID:Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. 2380 71

Sturge-Weber syndrome (SWS) is a rare, sporadically occurring neurocutaneous disorder with a frequency of approximately 1 per 50,000. The hallmark is an intracranial leptomeningeal vascular angioma in association with a port wine nevus, usually involving ophthalmic or maxillary distribution of trigeminal nerve. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis and mental retardation. The radiological hallmark is "Tram-line" or "Gyri-form" calcification. 25 to 56% of patients experience recurrent episodes of paroxysmal focal neurological deficits in form of transient hemiparesis, which may be due to vascular ischemia or postictal in origin. EEG helps to differentiate the exact etiology, as it is normal in former. Aspirin prophylaxis in those, due to ischemia decreases their recurrences and improves overall neurological prognosis. We report a 25-month-old child of SWS with recurrent episodes of transient hemiparesis and atypical midline location of facial vascular nevus.
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PMID:Paroxysmal vascular events in Sturge-Weber syndrome: Role of aspirin. 2489 2

Sturge-Weber Syndrome (SWS) is a rare, non-hereditary, congenital neuro cutaneous disorder characterized by vascular hamartomatous proliferations affecting classically, the leptomeninges and the skin of the face and may be associated with glaucoma, seizures and mental retardation. Intraoral findings are variable. A case of Roach type II Sturge Weber syndrome is reported here that did not show any neurological disorder but revealed a prominent angiomatous enlargement of the ipsilateral maxillary gingiva. SWS is a condition where dental management and surgical procedures of the patient can be risky, thus a sound knowledge of the disease and its management protocols better equips the clinician to avoid serious complications.
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PMID:Dental management in an encephalotrigeminal angiomatosis patient: a case report. 2528 46

Sturge-Weber syndrome is a rare, congenital, neuro-oculo-cutaneous disorder which is characterised extra-orally by unilateral port wine stains on the face, glaucoma, seizures and mental retardation, and intra-orally by ipsilateral gingival haemangioma which frequently affects the maxilla or mandible. In the present case, a 15-year-old female patient presented with a port wine stain on the right side of the face and glaucoma of the right eye, and intra-orally with gingival haemangioma on the right side of the maxilla.
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PMID:Sturge-Weber syndrome: oral and extra-oral manifestations. 2576 38

Sturge-Weber syndrome (SWS) is rare congenital disorder presenting facial port-wine stains (PWS) eye abnormalities and cerebrovascular malformations. The frequency of SWS is estimated at 1 in 50 000. Cerebrovascular abnormalities can be responsible for seizures, hemiparesis, mental retardation and ophthalmologic abnormalities cause intraocular pressure, glaucoma. Etiopathogenesis of SWS remains elusive. We present a case of a 7-year-old girl with SWS type II. A port-wine stain involves the upper right part of half face and has been associated with glaucoma of both eyes. In the Department of Dermatology in 2009-2012 we performed 23 procedures within 2 months. We have been using PDL laser at wavelength 595 nm and very good cosmetic results were achieved. Given positive treatment effects, the laser therapy of port-wine stains is a method of selection. Port-wine stains in the course of SWS requires a large number of laser treatment.
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PMID:Sturge-Weber syndrome type II treated with PDL 595 nm laser. 2582 31


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