000 02030nam a22002537a 4500
001 R000769
003 PILC
005 20240720153335.0
008 240717b |||||||| |||| 00| 0 eng d
040 _beng
_cFEU-NRMF MEDICAL LIBRARY
_drda
041 _aeng
050 _aMED 2024 0002
245 _aA 26-year-old female with Wolfram-associated Syndrome: A case report /
_b[author]: Sicat, Arline
260 _aFairview, Quezon City:
_bDepartment of Internal Medicine, FEU-NRMF,
_c2024
300 _c(in folder)
_ewith flash drive (soft copy)
336 _2rdacontent
_atext
337 _2rdamedia
_aunmediated
338 _2rdacarrier
_avolume
504 _aIncludes bibliographical references
520 _aABSTRACT: Wolfram syndrome is a very rare autosomal recessive disease characterized by constellation symptoms progressing from childhood to adulthood. These symptoms brought forth its other name DIDMOAD which comprises Diabetes insipidus, Diabetes mellitus, Optic Atrophy and Deafness. In this report, we describe a young woman diagnosed with Type 1 diabetes and optic atrophy who consulted due to severe headache, fever, urinary frequency and urgency. During the course of her admission, she had symptoms of persistent thirst, polyuria and nocturia. Further workup confirmed that she had urological abnormalities and Diabetes insipidus leading to a diagnosis of Wolfram-associated Syndrome. As healthcare providers, a high suspicion for Wolfram Syndrome should be a standard in patients who present with juvenile onset diabetes mellitus and optic atrophy which are the primary symptoms of Wolfram Syndrome. Early recognition and diagnosis will guide us to the proper management and help improve the patient and their family's quality of life. Objectives: 1. To present a case of a 26-year-old female who is a case of Wolfram associated Syndrome 2. To discuss the approach to diagnosis and management of patients with Wolfram Syndrome
521 _aRESDM
700 _aSicat, Arline
_eauthor
942 _2lcc
_cRU
999 _c12730
_d12730