Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome
نویسندگان
چکیده
منابع مشابه
Kimura’s Disease – An Unusual Presentation
Introduction: Kimura’s disease is a rare chronic inflammatory disease of unknown etiology, presenting as painless subcutaneous nodules with lymphadenopathy and peripheral eosinophilia, mainly disturbing the head and neck region. It mainly affects Asian males in their 2nd to 4th decade of life. One such case of Kimura’s disease, which is uncommon in Indian natives, is reported. Case Report: A ...
متن کاملOccurance of scleroderma-Sjogren intermediate phenotype and Addison’s disease in a patient: case report
Background: Association of Addison's disease with connective tissue diseases such as scleroderma and Sjogren have been rarely reported. Anti-centromere antibody (ACA) has been associated with exocrine gland dysfunction in anti-Ro, anti-La negative Sjogren’s syndrome and may be one of the causes of xerostomia in community. The purpose of this article was to introduce a rare case of scleroderma-S...
متن کاملGenotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome
using clinical genome sequencing. The Complete Genomics (California, USA) platform was used, and bioinformatics analysis was performed using the Complete Genomics pipeline (v2.5) (Carnevali et al. 2012). After excluding mutations in known glaucoma-associated genes, we focused on the 13q32 region, where an autosomal-dominant microcoria gene has been mapped (Fares-Taie et al. 2015).Aheterozygous ...
متن کاملNormocalcaemic pseudohypoparathyroidism with unusual phenotype.
We describe a boy who presented at 4 years of age with radiological hyperparathyroidism, osteosclerosis, and necrosis of the femoral heads. Plasma biochemistry was normal but the parathyroid hormone (PTH) level was very high. He was deaf and had an unusual facies but did not have the phenotype of Albright's hereditary osteodystrophy. Plasma and urine cyclic AMP reponses to bovine PTH were marke...
متن کاملUnusual complications in siblings with marfanoid phenotype.
Marfan's syndrome has diverse manifestations that overlap with those seen in other connective tissue disorders. Visceral diverticula have been described only once in four adults with marfanoid features of recessive inheritance. Two siblings of a consanguineous marriage with marfanoid features, visceral diverticula, and diaphragmatic eventration are reported.
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: Case Reports in Neurological Medicine
سال: 2020
ISSN: 2090-6668,2090-6676
DOI: 10.1155/2020/7368527