Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I
نویسندگان
چکیده
منابع مشابه
association of cystinosis with duane syndrome: a cease report
purpose: to report a case of cystinosis and idiopathic intracranial hypertention associated with duane syndrome type i. case report: a 15 years old girl and a known case of nephrotic cystinosis presented to eye clinic with complaints of lid fissure changes on horizontal gaze and headache since 6 months ago. she was obese and had short stature. she had history of kidney transplantation 6 years a...
متن کاملBartter syndrome associated with nephropathic cystinosis.
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome. Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulat...
متن کاملInfantile nephropathic cystinosis.
INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...
متن کاملBilateral type-I duane syndrome with multiple anamolies: a case report.
The Duane syndrome is a strabismus syndrome which is characterized by congenital non-progressive horizontal ophthalmoplegia which primarily affects the abducens nerve. Approximately 70% of the individuals with the Duane syndrome have an isolated disease. We have described here, a case of bilateral Duane syndrome with associated anamolies.
متن کاملBrain Imaging in Pediatric Pseudotumor Cerebri Syndrome
Pseudotumor cerebri syndrome (PTCS) is an umbrella term used for the constellation of symptoms caused by increased intracranial pressure (ICP) without hydrocephalus, spaceoccupying lesion, or anomalies of brain parenchyma and with a normal cerebrospinal fluid (CSF) composition.1 PTCS has a reported incidence of 0.9 per 100,000 in the general population, but it rises to 19 per 100,000 in obese w...
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ژورنال
عنوان ژورنال: Neuro-Ophthalmology
سال: 2014
ISSN: 0165-8107,1744-506X
DOI: 10.3109/01658107.2013.874451