Previously Undiagnosed Tuberous Sclerosis Complex in a Newborn: A Case Report
Journal Title: Journal of Rare Disorders: Diagnosis & Therapy - Year 2017, Vol 3, Issue 5
Abstract
The early diagnosis of tuberous sclerosis complex (TSC), especially during the neonatal period is rare. If there is a family history, foetal cardiac masses diagnosed by foetal echocardiography, may suggest TSC. After the delivery, in the neonatal period, TSC should be rule out. We report a case who had TSC and diagnosed early in the neonatal period. We would like to describe the clinical features of TSC and emphasize the importance of early diagnosis.
Authors and Affiliations
Yesim Coskun, Selcuk Gurel, Gulendam Kocak, Volkan Hazar, Ozge Yabas Kiziloglu, Ipek Akman
Previously Undiagnosed Tuberous Sclerosis Complex in a Newborn: A Case Report
The early diagnosis of tuberous sclerosis complex (TSC), especially during the neonatal period is rare. If there is a family history, foetal cardiac masses diagnosed by foetal echocardiography, may suggest TSC. After the...
Excision of Cervical Rib through Supraclavicular Approach
Thoracic Outlet Syndrome (TOS) is a clinical condition due to compression of the neurovascular structures, such as brachial plexus and subclavian vessels, during their course between the neck and axilla. Different etiolo...
Epigenetics in Rare Diseases
The role of epigenetics in rare diseases is a key issue in molecular physiology and medicine because the understanding about the mechanisms that explain the influences of epigenetic regulation in rare diseases will provi...
Polygonum amplexicaule Extract: An Effective Herbal Cure to CCl4 Induced Liver Damage In Vivo
Introduction: Liver damages are mainly caused by toxic chemicals, alcohol, infections and autoimmune disorders. Polygonum amplexicaule is a member of the genus Polygonum having high antioxidant contents and it has tradit...
Rare Cases in Psychiatry
In general medicine and its specialties it is logical that the rare cases are extraordinary, singular or unusual. But in our specialty in particular, we have to differentiate between the infrequent and the rare cases. I...