BMJ Case Rep. 2024 Sep 20;17(9):e260822. doi: 10.1136/bcr-2024-260822.
ABSTRACT
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterised by arginine vasopressin deficiency (AVP-D), juvenile type 1 diabetes mellitus (DM), optic atrophy (OA) and deafness. We describe an early adolescent female child being managed initially as a case of juvenile type 1 DM presented with urinary retention and diminished visual acuity. Further evaluation confirmed OA and stage IV chronic kidney disease secondary to bilateral hydro-uretero-nephrosis and urinary bladder atrophy. Though AVP-D and sensorineural deafness were absent, the diagnosis of WS was established clinically and confirmed by genetic analysis. Rarity of our case was in the early involvement of bilateral renal tracts. Renal tract involvement in juvenile type 1 DM should raise suspicion of pathology other than microvascular complication. High suspicion and careful evaluation are required to make a diagnosis of WS in juvenile type 1 DM.
PMID:39306336 | DOI:10.1136/bcr-2024-260822