Wolfram syndrome: a case report with severe polyuria and secondary urological abnormalities

نویسندگان

چکیده

Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which also known as DIDMOAD. Classical a rare autosomal recessive disorder caused mutations in WFS1, gene involved endoplasmic reticulum mitochondrial function. Patients present with type 1 followed atrophy first decade, insipidus sensorineural deafness second dilated renal outflow tracts early third various neurological abnormalities fourth decade. We describe case report of 14-year-old male child diagnosed wolfram mellitus, insipidus, deafness, severe urological abnormalities. who insulin-dependent together should be evaluated respect to Syndrome. If patient, presents persistent polyuria or neurogenic bladder despite good glycemic control, suspicion further evaluation regarding same must made. Recognizing timely management this will help improve quality life patient.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Report of a case of Proteus syndrome with severe anemia

Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...

متن کامل

Subjective Visual Vertical and Horizontal Abnormalities in a Patient with Lateral Medullary Syndrome-A Case Report

Introduction: Evaluation of persistent vertigo in post infarct patients is very important as the management depends on whether the cause is purely of central origin or due to associated vestibular affliction.   Case Report: A patient with left sided dorsolateral medullary syndrome and persistent vestibular symptoms was evaluated. Vestibular test battery showed abnormal smooth pursuit, bilateral...

متن کامل

Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report

Sagliker syndrome is a rare form of renal osteodystrophy resulted from untreated secondary hyperparathyroidism. It is described by severe skeletal deformities, high level of PTH in patients with chronic renal failure, and deformed face. This paper reports a 44-year-old male patient with the mentioned characteristics. In addition to the unique clinical features, high levels of ALP and PTH hormon...

متن کامل

Gonadotropin-Resistant Ovary Syndrome Presented with Secondary Amenorrhea and Infertility: A Case Report

Resistant ovary syndrome (ROS) is a presentation of hypergonadotrophic hypogonadism condition with very low incidence. Infertility is one of the most common complaints of women with this syndrome. We herein present a case of a 27-year-old woman with all features of secondary amenorrhea and secondary sexual characteristics. In 2018, the patient was referred to the Hazret-e-Zeinab Infertility Cen...

متن کامل

PHACES syndrome with cataract and Horner’s syndrome: a case report

PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.<br /...

متن کامل

ذخیره 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: International Journal of Contemporary Pediatrics

سال: 2021

ISSN: ['2349-3283', '2349-3291']

DOI: https://doi.org/10.18203/2349-3291.ijcp20211091