Dataset Information

Ganglioneuroblastoma: Case report and review of the literature.

ABSTRACT: Neuroblastoma are among the most important tumors of extracranial origin in pediatric patients. They arise from embryonal cells involved in the development of the sympathetic nervous system, whose differentiation has been arrested [1,2]. They are the tumors most frequently diagnosed during the first decade of life. Their evolution is unpredictable, ranging from progression to spontaneous regression or maturation, and their location and metastatic potential vary. Little is known about the cause of these tumors and the risk factors associated with their development. This article describes a typical case of ganglioneuroblastoma and provides a review of the literature on this type of tumor.Sommario Il neuroblastoma è uno dei più importanti tumori pediatrici di derivazione extracranica; esso origina dalle cellule embrionali coinvolte nello sviluppo del sistema nervoso simpatico a causa di un blocco nel loro processo di differenziamento [1,2]. È la più frequente neoplasia della prima decade di vita; la sua progressione biologica è imprevedibile, regressione spontanea, maturazione a ganglioneuroma, localizzazione e metastatizzazione variabili. Poco è noto a riguardo dei fattori di rischio e della sua eziopatogenesi. Viene presentato un caso tipico di ganglioneuroblastoma e riesaminata la letteratura su questa neoplasia.

SUBMITTER: Alessi S

PROVIDER: S-EPMC3558053 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Ganglioneuroblastoma: Case report and review of the literature.

Alessi S S Grignani M M Carone L L

Journal of ultrasound 20110422 2

Neuroblastoma are among the most important tumors of extracranial origin in pediatric patients. They arise from embryonal cells involved in the development of the sympathetic nervous system, whose differentiation has been arrested [1,2]. They are the tumors most frequently diagnosed during the first decade of life. Their evolution is unpredictable, ranging from progression to spontaneous regression or maturation, and their location and metastatic potential vary. Little is known about the cause o ...[more]

PMID: 23396255

Similar Datasets

Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

Project description:BackgroundIntestinal 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 presentationWe 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.ConclusionsOnly 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.

Dataset Information

Ganglioneuroblastoma: Case report and review of the literature.

Publications

Ganglioneuroblastoma: Case report and review of the literature.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets