Radiological findings in Wolfram syndrome

Azmy M. Hadidy, Nadim S. Jarrah, Nadim Jarrah, Maha I. Al-Till, Maha I. Al‐Till, Hatem E. El-Shanti, Hatem El‐Shanti, Kamel Ajlouni, Kamel M. Ajlouni
Saudi medical journal · 2004 · vol. 25(5) , pp. 638–641 · doi:10.15537/1658-3175.2414 · PMID:15138533 · W2169238906
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This study evaluated radiological findings in sixteen patients with Wolfram syndrome to define a reference population for clinical assessment. Using techniques such as ultrasonography, MRI, and endoscopy, researchers identified frequent urinary tract dilatation, peptic ulcers, and significant brain atrophy across both WFS-1 and WFS-2 subtypes. The authors noted that while urinary issues were common, no significant radiologic differences existed between the two genetic forms, although peptic ulcer prevalence was higher in WFS-2. Relevance to endometriosis: listed as one indication for GnRH antagonists, though the paper's main focus is uterine fibroids.

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Abstract

OBJECTIVE: To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS: Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one family. All patients were studied at Jordan University Hospital, Amman, Jordan, from January 2001 through to January 2003 by definite radiologic techniques as part of a thorough clinical comprehensive assessment. These include intravenous urography, abdominal and pelvic ultrasonography, barium meal, upper gastrointestinal endoscopy and magnetic resonance imaging with and without contrast to the brain and the pituitary glands. RESULTS: Five of the female patients had a small uterus. Spina bifida was found in 7, hydronephrosis in 9 and hydroureter in 5 patients. Peptic ulcer was detected in 10 out of 14 available patients and helicobacter pylori in 7 out of 16 patients. Atrophy was detected in all brains, 9 brain stems, 12 cerebellums and 14 optic tracts of all patients. The size of the pituitary glands was variable CONCLUSION: The particular radiologic assessment of patients with WFS proofed that, urinary tract dilatation was detected in WFS-1 and WFS-2 patients though all WFS-2 patients have no diabetes insipidus. Peptic ulcer was frequently higher in WFS-2 patients. No significant radiologic difference was found between patients with WFS-1 and WFS-2.
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Abstract OBJECTIVE: To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS: Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one family. All patients were studied at Jordan University Hospital, Amman, Jordan, from January 2001 through to January 2003 by definite radiologic techniques as part of a thorough clinical comprehensive assessment. These include intravenous urography, abdominal and pelvic ultrasonography, barium meal, upper gastrointestinal endoscopy and magnetic resonance imaging with and without contrast to the brain and the pituitary glands. RESULTS: Five of the female patients had a small uterus. Spina bifida was found in 7, hydronephrosis in 9 and hydroureter in 5 patients. Peptic ulcer was detected in 10 out of 14 available patients and helicobacter pylori in 7 out of 16 patients. Atrophy was detected in all brains, 9 brain stems, 12 cerebellums and 14 optic tracts of all patients. The size of the pituitary glands was variable CONCLUSION: The particular radiologic assessment of patients with WFS proofed that, urinary tract dilatation was detected in WFS-1 and WFS-2 patients though all WFS-2 patients have no diabetes insipidus. Peptic ulcer was frequently higher in WFS-2 patients. No significant radiologic difference was found between patients with WFS-1 and WFS-2. Article Type Research Article First Page 638 Last Page 641 Recommended Citation Hadidy, Azmy M.; Jarrah, Nadim S.; Al-Till, Maha I.; El-Shanti, Hatem E.; and Ajlouni, Kamel M. (2004) "Radiological findings in Wolfram syndrome," Saudi Medical Journal: Vol. 25: Iss. 5, Article 17. DOI: https://doi.org/10.15537/1658-3175.2414

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