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World Journal of Gastroenterology Sep 2015Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of... (Review)
Review
Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of life of the affected patient. Furthermore, some of these conditions might also have implications for adulthood. Pediatric intestinal motility disorders frequently present as chronic constipation in toddler age children. Most of these conditions are functional, meaning that constipation does not have an organic etiology, but in 5% of the cases, an underlying, clearly organic disorder can be identified. Patients with organic causes for intestinal motility disorders usually present in early infancy or even right after birth. The most striking clinical feature of children with severe intestinal motility disorders is the delayed passage of meconium in the newborn period. This sign is highly indicative of the presence of Hirschsprung disease (HD), which is the most frequent congenital disorder of intestinal motility. HD is a rare but important congenital disease and the most significant entity of pediatric intestinal motility disorders. The etiology and pathogenesis of HD have been extensively studied over the last several decades. A defect in neural crest derived cell migration has been proven as an underlying cause of HD, leading to an aganglionic distal end of the gut. Numerous basic science and clinical research related studies have been conducted to better diagnose and treat HD. Resection of the aganglionic bowel remains the gold standard for treatment of HD. Most recent studies show, at least experimentally, the possibility of a stem cell based therapy for HD. This editorial also includes rare causes of pediatric intestinal motility disorders such as hypoganglionosis, dysganglionosis, chronic intestinal pseudo-obstruction and ganglioneuromatosis in multiple endocrine metaplasia. Underlying organic pathologies are rare in pediatric intestinal motility disorders but must be recognized as early as possible.
Topics: Age Factors; Biopsy; Child; Child, Preschool; Chronic Disease; Constipation; Defecation; Early Diagnosis; Gastrointestinal Motility; Humans; Immunohistochemistry; Infant; Intestinal Diseases; Predictive Value of Tests; Prognosis; Risk Factors
PubMed: 26361414
DOI: 10.3748/wjg.v21.i33.9683 -
Italian Journal of Pediatrics Mar 2021Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as... (Review)
Review
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.
Topics: Abdominal Pain; Child; Colon; Colonoscopy; Digestive System Neoplasms; Ganglioneuroma; Humans; Male; Multiple Endocrine Neoplasia Type 2b; Tomography, X-Ray Computed; Ultrasonography
PubMed: 33785023
DOI: 10.1186/s13052-021-01024-5 -
Journal of Surgical Case Reports Jan 2022Ganglioneuromas are benign, fully differentiated mature tumours related to neuronal tissues and usually seen in the gastrointestinal tract, retroperitoneum and...
Ganglioneuromas are benign, fully differentiated mature tumours related to neuronal tissues and usually seen in the gastrointestinal tract, retroperitoneum and mediastinum. The few cases of appendiceal ganglioneuromas that were previously described in the literature belong to the paediatric population and were associated with genetic mutations and syndromes. We present a unique case of an Aboriginal Australian adult with acute appendicitis and concurrent ganglioneuroma diagnosed using histopathology and immunohistochemistry using Neu-N, S100 and Sox-10. The patient had no history of any of the syndromes associated with ganglioneuromatosis and had no other relevant family history.
PubMed: 35079345
DOI: 10.1093/jscr/rjab632 -
International Journal of Surgery Case... Jun 2023Ganglioneuromas (GNs) are hamartomatous tumors that originate in sympathetic ganglia and adrenal glands. Rarely, they might originate in enteric nervous system affecting...
INTRODUCTION
Ganglioneuromas (GNs) are hamartomatous tumors that originate in sympathetic ganglia and adrenal glands. Rarely, they might originate in enteric nervous system affecting its motility. Clinically they present with varying symptoms of pain abdomen, constipation and bleeding. Nevertheless, patients can remain asymptomatic for many years.
CASE PRESENTATION
Author is reporting here a case of ganglioneuromatosis of intestine in a child and its effective management by a simple surgical procedure, yielding good result without morbidity.
CLINICAL DISCUSSION
Intestinal ganglioneuromatosis is a rare form of benign neurogenic tumor characterized by hyperplasia of ganglion cell nerve fibers and supporting cells.
CONCLUSION
Intestinal ganglioneuromatosis, diagnosed only after histopathological examination, should be managed either by conservative or surgical procedure, depending upon the clinical scenario by attending paediatric surgeon.
PubMed: 37224724
DOI: 10.1016/j.ijscr.2023.108335 -
Frontiers in Medicine 2022Intestinal ganglioneuromatosis (IGN) is a rare condition with enteric involvement. Herein, we report a case series of pediatric IGN with a novel phenotypic and genotypic...
INTRODUCTION
Intestinal ganglioneuromatosis (IGN) is a rare condition with enteric involvement. Herein, we report a case series of pediatric IGN with a novel phenotypic and genotypic profile.
METHODS
The clinical presentation, histopathology, immunochemistry, molecular features, treatment, and prognosis of 3 cases of IGN were assessed.
RESULTS
The cases involved 3 boys with an age range of 1 year and 4 months to 8 years, mimicking juvenile polyps or pseudomembranous enteritis. One patient carried a novel germline mutation in (c.296C > T/p.Pro99Leu) along with variants in (c.1489C > T/p.Arg497Xaa), (c.1514delC/p.Pro505Hisfs*15), and (c.315-48T > C/splicing), who died due to intractable inflammation. The other two patients underwent recurrence without significant signs of systemic syndrome or malignant progression.
CONCLUSION
This case series added to the phenotypic and genotypic spectrum of pediatric IGN, which requires the accumulation of more cases and research for in-depth understanding.
PubMed: 35783634
DOI: 10.3389/fmed.2022.883958 -
Clinical Case Reports Feb 2022Neonatal intestinal ganglioneuroma and neurofibromatosis are rare in neonates. It is a challenging pathology to diagnose and treat. A 3-week-old full-term newborn with a...
Neonatal intestinal ganglioneuroma and neurofibromatosis are rare in neonates. It is a challenging pathology to diagnose and treat. A 3-week-old full-term newborn with a birth weight of 3.5 kg of Arabic ethnicity presented to the emergency department with a recurrent refractory intestinal obstruction. The patient has been diagnosed initially with intestinal obstruction secondary to malrotation and then operated again because of adhesion and internal herniation. Finally, after the third laparotomy, the patient was diagnosed with intestinal ganglioneuromatosis and neurofibromatosis. We reviewed the literature on the diagnosis and management of this rare pathology among neonates and to increase the awareness of it. Intestinal ganglioneuromatosis is a rare neonatal pathology. The clinical presentation of intestinal ganglioneuromatosis is similar to that of intestinal obstructions caused by many other diseases. Ganglioneuromatosis is differentiated from other differential diagnoses based on histopathology. Early diagnosis is vital to ensure appropriate management.
PubMed: 35198200
DOI: 10.1002/ccr3.5173 -
Boletin Medico Del Hospital Infantil de... 2022Ganglioneuromas are histologically benign neoplasms derived from the sympathetic nervous system, whose occurrence in the gastrointestinal tract is rare and often...
BACKGROUND
Ganglioneuromas are histologically benign neoplasms derived from the sympathetic nervous system, whose occurrence in the gastrointestinal tract is rare and often syndromic. According to the injury pattern and extension, lesions are divided into polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. This work aimed to present the incidental post mortem finding of diffuse ganglioneuromatosis of the gastrointestinal tract in a patient without syndromic involvement.
CASE REPORT
We describe the case of a two-year-old female patient with surgically corrected type III tracheoesophageal atresia and fistulous recanalization, multiple episodes of aspiration pneumonia, and septic shock. During the last admission, she developed massive pulmonary hemorrhage and multi-organ failure. Post mortem histopathological study identified hypertrophy of the pylorus and enlarged enteric nerve trunks and plexuses with intermingled mature ganglion cells. We identified ganglioneuromatosis affecting all gastrointestinal tract segments with the predominance of the myenteric plexuses.
CONCLUSIONS
Intestinal ganglioneuromatosis is a rare disease with a spectrum of lesions ranging from isolated to syndromic with high morbidity and mortality. Therefore, it is necessary to know the condition, investigate systematically when it is suspected, and rely on genetic studies to confirm or rule out any syndromic association.
Topics: Child, Preschool; Humans; Infant, Newborn; Ganglioneuroma; Fatal Outcome
PubMed: 36477420
DOI: 10.24875/BMHIM.21000215 -
Genetics in Medicine : Official Journal... Sep 2011Multiple endocrine neoplasia type 2 is historically composed of three clinical subtypes, all of which are associated with germline mutations in the RET proto-oncogene.... (Review)
Review
Multiple endocrine neoplasia type 2 is historically composed of three clinical subtypes, all of which are associated with germline mutations in the RET proto-oncogene. Multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2B are collectively associated with a 70-100% risk of medullary thyroid carcinoma by age 70 years. Pheochromocytomas are identified in 50% of individuals with multiple endocrine neoplasia type 2A and multiple endocrine neoplasia type 2B. Furthermore, those with multiple endocrine neoplasia type 2A have a 20-30% risk for primary hyperparathyroidism. Individuals with multiple endocrine neoplasia type 2B often have distinct physical features including mucosal neuromas of the lips and tongue, medullated corneal nerve fibers, ganglioneuromatosis of the gastrointestinal tract, distinctive facies with enlarged lips, and a "Marfanoid" body habitus. Clinical recognition and accurate diagnosis of individuals and families who are at risk of harboring a germline RET mutation is critical for the prevention and management of potentially life-threatening neoplasms. This overview summarizes the clinical description of multiple endocrine neoplasia type 2, diagnosis and testing strategies, management and surveillance, and differential diagnosis for other related syndromes.
Topics: Adrenal Gland Neoplasms; Carcinoma, Medullary; Diagnosis, Differential; Genotype; Humans; Multiple Endocrine Neoplasia Type 2a; Multiple Endocrine Neoplasia Type 2b; Mutation; Neoplastic Syndromes, Hereditary; Phenotype; Pheochromocytoma; Proto-Oncogene Mas; Thyroid Neoplasms
PubMed: 21552134
DOI: 10.1097/GIM.0b013e318216cc6d -
Experimental and Therapeutic Medicine Mar 2015Diffuse ganglioneuromatosis (DG) of the gastrointestinal tract is a rare condition that is closely associated with neurofibromatosis type 1 and multiple endocrine...
Diffuse ganglioneuromatosis (DG) of the gastrointestinal tract is a rare condition that is closely associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2B. The occurrence of DG with multiple schwannomas, which, of the GI tract, usually affect the stomach, is considerably more rare. The present study describes the case of a 54-year-old male with indolent DG, principally involving the small intestine and colon, associated with multiple schwannomas in the subserosa. The patient was treated with surgery. A brief overview of intestinal ganglioneuromatous lesions and the associated conditions is additionally presented.
PubMed: 25667620
DOI: 10.3892/etm.2015.2212