Background Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years. Case presentation We describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative. Conclusions Only few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.
The authors' starting point is a new surgical approach described by Foker and performed by them on a newborn with long-gap oesophageal atresia. We discuss the possibility of obtaining rapid growth of the atretic oesophagus and performing a primary anastomosis in the case of long-gap oesophageal atresia. With this procedure, primary oesophageal repair could be performed without myotomies, without flaps and with the gastrooesophageal junction below the diaphragm. The need for gastrostomy would be also eliminated if the patient underwent the operation as a neonate.
Foreign body ingestion in children is a challenging clinical scenario.Children may be completely asymptomatic or present with overt symptoms, including drooling, dysphagia, chest pain and feeding refusal. [1][2][3] The majority of ingested foreign bodies passes spontaneously along the gastrointestinal (GI) tract and causes no harm nor symptoms. Nevertheless, in some circumstances foreign bodies may cause important morbidity or even mortality, due to GI bleeding, ulceration, perforation, mediastinitis, peritonitis, abscess or fistula formation. Moreover, in case of vomiting, foreign bodies may also be inhaled, causing airway obstruction. 3
Objective: To evaluate the prevalence of omental infarction (OI) in children with suspected appendicitis, the role of ultrasonography (US) in its diagnosis and management and the efficacy of conservative management.Methods: Consecutive children with suspected acute appendicitis were prospectively enrolled. Ultrasonography was performed at baseline, during follow-up, before the discharge, and at 15-day intervals until US findings of OI disappeared. All children with a diagnosis of OI were treated conservatively.Results: One hundred ninety-nine children (91 male; age range, 3-15 years) were evaluated. Eighty-four patients had acute appendicitis. Omental infarctions were found in 14 children (8 male; mean age, 9.8 ± 2.6 years), with an incidence of 7%. Ultrasonography depicted an echogenic mass consistent with OI in all children. Ultrasonography detected in 8 patients a normal-looking appendix, whereas in other 6 patients, it identified neither appendix nor indirect signs of acute appendicitis. A normal appendix has been detected by US during follow-up in 2 of these 6 patients. During follow-up, US finding of OI disappeared in all cases and no signs of acute appendicitis or other disease occurred. All 14 OIs were treated conservatively, with no reported complications.Conclusions: Omental infarction is an underestimated cause of abdominal pain in children accounting for 7% of patients with suspected appendicitis. Ultrasonography is a useful method for the diagnoses and to guide clinical management of OI. Conservative therapy is a safe option for the management of OI.
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