Results 41 to 50 of about 27,333 (156)

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Case Reports in Neurological Medicine
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh   +11 more
doaj   +1 more source

Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review

SAGE Open Medical Case Reports
Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging.
Susmin Karki, Pramish Bhatta, Asmita Parajuli, Khusbu Kumari, Divas Rijal, Kayleigh Anjali Harrylal, Shristi Gautam, Arun Kumar Sharma   +7 more
doaj   +1 more source

Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]

F1000Research, 2018
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj   +1 more source

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex

GMS Ophthalmology Cases, 2016
Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce, Kunstmann, Erdmute, König, Thomas, Matlach, Juliane, Kampik, Daniel   +4 more
doaj   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

Challenges in the management of a case of tuberous sclerosis

Industrial Psychiatry Journal, 2012
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi, Manjeet Singh Bhatia, Anurag Jhanjee   +2 more
doaj   +1 more source

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Frontiers in Cell and Developmental Biology
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao   +10 more
doaj   +1 more source

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source

Management of Renal Angiomyolipomas in Tuberous Sclerosis: A Case Series

Vascular Specialist International
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis.
Ganesh G Gowda, Maureen Prativa Tigga, Rashmi Hosahalli Sreenath   +2 more
doaj   +1 more source

Tuberous Sclerosis: An uncommon cause of hyperprolactinemia

Indian Journal of Endocrinology and Metabolism, 2012
Tuberous Sclerosis is a multi system genetic disorder affecting skin, central nervous system,kidney,heart and lungs. We present a case report of a 26 year old female with tuberous sclerosis who presented with galactorrhea and menstrual irregularities due
Sunil Kumar Kota, Lalit Kumar Meher, SVS Krishna, K D Modi   +3 more
doaj   +1 more source