Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

Patient: Male, 35-year-old Final Diagnosis: Negative-pressure pulmonary edema Symptoms: Difficult airway management Medication:— Clinical Procedure: — Specialty: Anesthesiology • Critical Care Medicine Objective: Unusual clinical course Background: Difficult tracheal intubation (DTI) is common in patients with rheumatoid arthritis (RA) because of the subluxation of atlas and axis, the fusion of the cervical spine as a result of arthritis. We report a case of negative-pressure pulmonary edema (NPPE) caused by DTI in a patient with juvenile RA (JRA) who underwent surgery for spigelian hernia. Case Report: A 35-year-old man was referred to our department for repeated abdominal pain and a left-lower quadrant mass. Spigelian hernia was diagnosed with abdominal computed tomography (CT), and surgery was scheduled. Despite careful preoperative preparation and intubation strategy, fiber-optic intubation and laryngeal mask ventilation failed; nasal fiber-optic tracheal intubation was subsequently successfully performed. During induction, upper airway obstruction caused NPPE. CT findings showed bilateral infiltration and diffuse ground-glass opacity suggestive of pulmonary edema. Surgery for the spigelian hernia was canceled as the patient required intensive care as a result of NPPE. After 48 h of initiating treatment, the patient’s respiratory condition gradually improved. Seven days after DTI, he underwent laparoscopy-assisted surgery for the spigelian hernia. The patient was discharged after 2 weeks of hospitalization. Four years have passed since the surgical procedure; the outcome has remained favorable and there has been no recurrence. Conclusions: Normal ventilation may be the most important factor for preventing NPPE. It is vital that patients with RA receive treatment in an environment with advanced airway equipment and staff fully trained in its use. Similarly, the necessary staff and equipment for emergency cricothyroidotomies should also be readily available.

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