Neural, renal and retinal hamartomas with cutis vertis gyrata a rare presentation in tuberous sclerosis complex.

Simple item page
dc.contributor.authorShanbhag, Nita U
dc.contributor.authorBhatt, Nupur Vijay
dc.contributor.authorPatil, Sharmila
dc.contributor.authorCholera, Priyadarshini
dc.date.accessioned2015-12-02T08:49:01Z
dc.date.available2015-12-02T08:49:01Z
dc.date.issued2015-11
dc.description.abstractTuberous sclerosis complex characterised by multiple benign tumours, is caused by mutation in the genes TSC1 and TSC2 coding for Hamartin and Tuberin respectively. We report a case of a 17 year old female patient who presented with classical Vogt’s triad characterized by seizures, mental retardation and adenoma sebaceous. She presented with Cutis Vertis Gyrata in addition to multiple retinal astrocytic hamartomas in her right eye with retinal pigment epithelium changes in both eyes and a normal anterior segment examination. Magnetic resonance imaging (MRI) of the brain showed subependymal giant cell astrocytomas and cortical tubers. Ultrasound of the abdomen showed bilateral renal angiomyoliposis. We are presenting this case as retinal hamartomas with five Major criteria are seen along with secondary Cutis Vertis Gyrata which is an extremely rare presentation of Tuberous sclerosis. Absence of most of the Minor criteria is not to be excluded.en_US
dc.identifier.citationShanbhag Nita U, Bhatt Nupur Vijay, Patil Sharmila, Cholera Priyadarshini. Neural, renal and retinal hamartomas with cutis vertis gyrata a rare presentation in tuberous sclerosis complex. International Journal of Research in Medical Sciences. 2015 Nov; 3(11): 3412-3415.en_US
dc.identifier.issn2320-6071
dc.identifier.issn2320-6012
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/166851
dc.language.isoenen_US
dc.source.urihttps://www.msjonline.org/?mno=199502en_US
dc.subjectTuberous sclerosisen_US
dc.subjectAstrocytic retinal hamartomasen_US
dc.subjectCutis Vertis Gyrataen_US
dc.subjectSubependymal giant cellen_US
dc.titleNeural, renal and retinal hamartomas with cutis vertis gyrata a rare presentation in tuberous sclerosis complex.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijrms2015v3n11p3412.pdf
Size:
474.51 KB
Format:
Adobe Portable Document Format
Description:
Case report
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
International Journal of Research in Medical Sciences