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Colon Transit Scintigraphy in Schaaf-Yang Syndrome
Jose R Infante1, Alvaro Baena, Andres Martinez
1From the Nuclear Medicine Department, Complejo Hospitalario Universitario, Badajoz, Spain.
Schaaf-Yang syndrome, a rare genetic disorder, involves developmental delays and intellectual disability. Colon transit scintigraphy revealed rapid proximal colonic transit and anorectal retention in a patient with this condition.
Area of Science:
- Genetics
- Pediatrics
- Nuclear Medicine
Background:
- Schaaf-Yang syndrome (SHFYNG) is a rare autosomal dominant genetic disorder.
- Characterized by developmental delays, hypotonia, intellectual disability, feeding issues, and dysmorphic features.
- Over 250 cases reported, highlighting its extreme rarity.
Observation:
- A 6-year-old boy presented with chronic constipation unresponsive to medical treatment.
- Clinical characteristics and gene mutations were consistent with Schaaf-Yang syndrome.
- Colon transit scintigraphy was performed using 111In-DTPA.
Findings:
- Planar and SPECT/CT imaging demonstrated rapid proximal colonic transit.
- Significant anorectal retention was observed.
- These findings provide insights into gastrointestinal motility in SHFYNG.
Implications:
- Colon transit scintigraphy can aid in diagnosing gastrointestinal dysfunction in Schaaf-Yang syndrome.
- Understanding motility patterns may inform treatment strategies for constipation in affected individuals.
- Further research into the pathophysiology of gastrointestinal issues in SHFYNG is warranted.
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