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
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...
Spontaneous Cutaneous Endometriosis of the Umbilicus: A Case Report
Cutaneous endometriosis represents an unusual ectopic growth of endometrial tissue outside the uterine cavity. We present a case of spontaneous (primary) cutaneous endometriosis of the umbilicus with review of the approp...
Can a Low-Carbohydrate Diet Improve Exercise Tolerance in Mcardle Disease?
Context: McArdle disease is a rare disease of muscle metabolism caused by a deficiency of the enzyme myophosphorylase, which prevents stored muscle glycogen from being converted to glucose. The resultant effect is exerci...
AbrikossoffâÂÂs Tumor (Granular Cell Tumor) of the Breast: A Case Report and Literature Review
Abrikossoff’s tumors can become a difficult diagnostic challenge for the physicians because of their clinical, mammographical, and sonographical aspects, mimicking a primary breast carcinoma. We report of a healthy 31-y...
A Pre-operative Realignment of Atlanto-occipital Dislocation
Atlanto-occipital dislocation (AOD) is the most common cervical spine injury in motor vehicular accident fatalities. It carries a high morbidity and mortality. Diagnosis of this injury is difficult and requires a high in...