Neuroacanthocytosis with unusual clinical features
نویسندگان
چکیده
منابع مشابه
Leiomyosarcoma with Unusual Macroscopic Features: A Case Report
Uterine sarcoma is a rare tumor of mesodermal origin, accounting for 2-6% of uterine malignancies. Leiomyosarcoma (LMS) has been reported in only 1% of all uterine malignancies and is regarded as the most common primary uterine sarcoma. Herein, we present a case of LMS with unusual macroscopic features. The patient was a 61-year-old woman with LMS, which consisted of a large cystic mass (88×136...
متن کاملNeuroacanthocytosis
The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms...
متن کاملSepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
clinical symptoms of all MC were in line with classical PD. For comparison of AAO data, we used published AAO of a large population-based cohort. The AAO of 197 idiopathic PD patients was 70 6 11 years, whereas the AAO of MC with one mutation in our meta-analysis was 42 6 16 years (P < 0.0001). It should be noted however, patients with young onset of PD are more likely to be included in genetic...
متن کاملSphenopharyngeal meningoencephalocele: unusual clinical and radiologic features.
A 42-year-old woman was admitted for further investigation of deficiency of growth hormone and gonadotropin first documented in 1969. On admission, the patient was mildly obese and of short stature (48 kg for 134 em). There was no evidence of facial or palatal abnormality, fundoscopy was normal , and both visual fields and sense of smell were intact. Clinical examination also was normal. The fo...
متن کاملGoldenhar Syndrome with Unusual Features
*Senior Resident, **Associate Professor, ***Professor, Department of Ophthalmology, T.N.M.C. and B.Y.L. Nair Hospital, Mumbai. Abstract Goldenhar syndrome is a morphogenetic anomaly involving the 1st and 2nd branchial arches. It is also known as the oculo-auriculo-vertebral syndrome because of the association of eye anomalies with or without vertebral and ear anomalies. It has been also Goldenh...
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: Medicine
سال: 2019
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000014050