A New Mutation Site of Succinate Dehydrogenase-Related Carney-Stratakis Syndrome: A Case Report
نویسندگان
چکیده
Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case new mutation site SDHB that not yet reported.
منابع مشابه
MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
متن کاملResection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat.
A 39-year-old man was referred to the vascular surgeons with a right-sided cervical mass, palpitations, headaches and sweating. He had presented with abdominal discomfort 12 months earlier. Investigations had revealed a gastrointestinal stromal tumour (GIST) and left adrenalectomy. CT of the neck with contrast demonstrated a large right carotid paraganglioma, extending superiorly from below the...
متن کاملA Case Report of a Syndrome
Un cas de Syndrome de Rubinst.ein-Taybi Un enfant age de 13 mois s'adres'se pour des troubles digestifs et respiratoires. Il presenfait un elargissements de Ia phalange -terminale du ponce et du gros orteil, la voute palatine ogivale, et -une dysmorphie faciale caracteristique: nez aquilin obliquite anti -maJ ourlees et implantee-s basses. Le retard mental nez avcc un retard statural moins ...
متن کاملCushing’s Syndrome Revealing Carney Complex: A Case Report
A 35-year-old female was referred in Mai 1999 to our department for oligomenorrhea, baldness and weight gain evolving over 2 years. She doesn’t have any medical record and she is not taking any specific treatment especially corticosteroids. In her familial history, we found a sister and a niece with breast cancer and a brother died of colon cancer. The physical exam revealed a moon face, a mode...
متن کاملSheehan Syndrome: A Case Report
'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran. Clinical diagnosis was confirmed by appropriate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thyroid -Gonad -Adrenal) and was discharged in good cond...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of disease markers
سال: 2023
ISSN: ['2380-0682']
DOI: https://doi.org/10.26420/jdismarkers.2022.1049