Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl
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CASE REPORT
Juvenile polyposis syndrome‑hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl Yusuke Hashimoto1 · Koji Yokoyama1 · Hideki Kumagai1 · Yuko Okada1 · Takanori Yamagata1 Received: 14 July 2020 / Accepted: 31 August 2020 © Japanese Society of Gastroenterology 2020
Abstract Juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report a case of childhood-onset JPS-HHT. At nine years old, the patient underwent colonoscopy under suspicion of Crohn’s disease, which revealed multiple polyps. A genetic analysis for familial adenomatous polyposis and Peutz-Jeghers syndrome found no mutations. After several years, extraintestinal manifestations, such as repeated epistaxis and several telangiectasias in the upper palate and stomach, were identified, which led to the performance of gene mutation analysis for SMAD4. As a result, a missense mutation in exon 8, codon 361 from arginine to cysteine (c.1081 C>T) was found. Based on this finding, the patient underwent cerebral magnetic resonance angiography, pulmonary perfusion scintigraphy and thoracoabdominal contrast computed tomography. The examination revealed that she had pulmonary arteriovenous fistulas and arteriovenous malformations in both the liver and right mammary gland. Thus, continuous surveillance for vascular lesions and gastrointestinal cancer is scheduled. Making a precise diagnosis of JPS-HHT can lead to the detection of asymptomatic complications and enable appropriate future disease management. Keywords Arteriovenous malformation · Epistaxis · Extraintestinal manifestation · Colon cancer · Telangiectasia
Introduction Juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. JPS is an autosomal dominant disorder with an estimated incidence of 1 per 100,000 individuals and is characterized by the development of multiple juvenile (hamartomatous) polyps throughout the gastrointestinal (GI) tract [1]. Polyps usually occur in the third decade of life, and primarily develop in the colon and rectum. There are three main clinical presentations of JPS: more than five juvenile polyps in the large intestine, juvenile polyps across the GI tract (two or more organs), any number of juvenile polyps and a family history of JPS [2]. The symptoms of JPS, such as abdominal pain, diarrhea, acute or chronic GI bleeding, anemia, prolapsed rectal polyps, bowel obstruction, and intussusception can present in all age groups from infancy * Koji Yokoyama [email protected] 1
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan
to adulthood [2]. Approximately 40–50% of JPS cases are estimated to be associated with mutations in the BMPRIA and SMAD4 genes, while the causative genes have not been detected in the remaining cases [3]. HHT is an autosomal dominant disord
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