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Peutz-Jeghers Syndrome With Incidental Legg-Calvé-Perthes Disease: A Rare Radiological Association in a Pediatric
Vadakattu Mani Harsha1, Ravi Kiran1, Abburi Anil Kumar1
1Radiodiagnosis, Great Eastern Medical School and Hospital, Srikakulam, IND.
Insights
This case report details a rare co-occurrence of Peutz-Jeghers syndrome (PJS) and Legg-Calvé-Perthes disease (LCPD) in a pediatric patient. Comprehensive imaging identified both conditions, highlighting the importance of thorough radiological assessment in syndromic disorders.
Area of Science:
- Pediatric Gastroenterology
- Medical Imaging
- Genetics and Rare Diseases
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder causing gastrointestinal polyps and mucocutaneous pigmentation.
- Pediatric PJS often presents with complications like intussusception and bleeding.
- Legg-Calvé-Perthes disease (LCPD) is a childhood hip disorder affecting bone development.
Abstract:
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hamartomatous polyposis disorder characterised by mucocutaneous pigmentation and multiple gastrointestinal polyps, most commonly involving the small intestine. Paediatric patients frequently present with complications, such as abdominal pain, gastrointestinal bleeding, and recurrent intussusception. We report the case of a nine-year-old female with classical clinical and radiological features of PJS, including multisite gastrointestinal polyposis and a prior history of intussusception. Contrast-enhanced computed tomography revealed multiple heterogeneously enhancing sessile polyps involving the stomach, duodenum, colon, and rectum. Histopathological examination confirmed the diagnosis of PJS. In addition, imaging demonstrated incidental findings of femoral head epiphyseal flattening and sclerosis, consistent with avascular necrosis, suggestive of Legg-Calvé-Perthes disease (LCPD). A comprehensive review of the available literature revealed no previously reported cases describing a similar radiological association between PJS and LCPD. While both conditions are individually well documented, their coexistence appears to be extremely rare, thereby highlighting the novelty of the present case. The patient was managed conservatively and is currently under follow-up, with a stable clinical status. This case underscores the value of comprehensive cross-sectional imaging in pediatric patients with syndromic disorders, facilitating both diagnostic confirmation and the identification of unexpected but clinically significant incidental findings.
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