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The Journal of Clinical Endocrinology... Jul 2020Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal...
CONTEXT
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing.
OBJECTIVE
The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up.
DESIGN
We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care.
METHODS
All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome.
RESULTS
Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain.
CONCLUSION
Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.
Topics: Adrenal Gland Neoplasms; Autonomic Nervous System Diseases; Ganglioneuroblastoma; Ganglioneuroma; Humans; Hypothalamic Diseases; Hypoventilation; Obesity; Prognosis; Syndrome
PubMed: 32407531
DOI: 10.1210/clinem/dgaa247 -
BMJ Case Reports Aug 2018A 17-year-old man initially presented to his primary care physician with throat pain for 1 week and was started on amoxicillin. After four additional days of ongoing...
A 17-year-old man initially presented to his primary care physician with throat pain for 1 week and was started on amoxicillin. After four additional days of ongoing pain and difficulty swallowing with decreased oral intake, he presented to the emergency department. Exam showed fullness to the right posterior oropharynx and palpable mass in the right neck without stridor. Initial imaging was soft tissue neck CT with contrast, which showed cystic 8 cm mass in the parapharyngeal space. Patient additionally underwent MRI, which showed an 8.6 cm mass in the right posterior oropharynx with obliteration of the vallecula. Differential diagnosis included abscess; therefore, ear, nose, and throat (ENT) specialist was consulted for possible drainage. Intraoperatively, there was no abscess; alternatively a biopsy was obtained, which was identified by pathology as a ganglioneuroma. Patient was referred to paediatric ENT specialist, underwent extensive resection confirming diagnosis of ganglioneuroma and did well postoperatively.
Topics: Adolescent; Deglutition Disorders; Diagnosis, Differential; Ganglioneuroma; Humans; Male; Neck; Oropharynx; Pharyngeal Neoplasms; Pharyngitis
PubMed: 30131403
DOI: 10.1136/bcr-2018-225763 -
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 -
Ear, Nose, & Throat Journal Dec 2023Ganglioneuroma is a rare benign tumor originating in the sympathetic ganglia, composed of differentiated ganglion cells, nerve sheath cells, and nerve fibers, which tend... (Review)
Review
Ganglioneuroma is a rare benign tumor originating in the sympathetic ganglia, composed of differentiated ganglion cells, nerve sheath cells, and nerve fibers, which tend to occur in the posterior mediastinum, adrenal gland, retroperitoneal, and other locations, occurring in the head and neck is relatively rare, and parapharyngeal space involvement is extremely rare. In our report, we present 2 adult male patients whose preoperative imaging and fine needle cytology did not confirm the diagnosis of a parapharyngeal space mass and who completely resected the tumor through a combined cervical and oral approach. Finally, pathology confirmed ganglioneuroma; we also reviewed the English articles on parapharyngeal ganglioneuroma over the past 40 years, and summarized the diagnostic and treatment characteristics of parapharyngeal ganglioneuroma in combination with our cases to improve understanding of the disease.
Topics: Adult; Humans; Male; Parapharyngeal Space; Ganglioneuroma; Neck; Needles
PubMed: 36450599
DOI: 10.1177/01455613221142658 -
Romanian Journal of Morphology and... 2017Chronic diarrhea in infants is a common condition for addressability to pediatric gastroenterologists. The causes are multiple and the delay in reaching the final... (Review)
Review
Chronic diarrhea in infants is a common condition for addressability to pediatric gastroenterologists. The causes are multiple and the delay in reaching the final diagnosis can lead to complications in the general condition of the child. The purpose of this review is to present the bio-clinical and histogenetic particularities of a rare clinical entity, characterized by tumoral causes of chronic diarrhea. VIPomas are neuroendocrine tumors that autonomously secrete vasoactive intestinal peptide (VIP). Watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome caused by VIP-producing tumors only rarely occurs in adult patients with non-pancreatic disease. In pediatric patients, it is extremely rare for a VIPoma to originate in the pancreas; instead, WDHA syndrome is usually associated with VIP-secreting neurogenic tumors involving the retroperitoneum or mediastinum. The majority of VIP secreting tumors in pediatric patients are represented by ganglioneuroblastomas or ganglioneuromas originating in the adrenal medulla or sympathetic neural crest. This syndrome of watery diarrhea associated with hypokalemia and achlorhydria was first described by Verner and Morrison, in 1958, and has been assumed to be due to hypersecretion of VIP. In children, as well as in adult patients, the most likely explanation for persistent secretory diarrhea may be an occult VIPoma. In conclusion, the physicians should be aware that there are some rare tumoral causes of chronic diarrhea, often under-diagnosed. If the diagnosis is not considered, extensive gastrointestinal investigations will be undertaken, delaying the diagnosis and avoidable morbidity will occur.
Topics: Ganglioneuroma; Humans; Vasoactive Intestinal Peptide; Vipoma
PubMed: 28730220
DOI: No ID Found -
Experimental and Therapeutic Medicine Nov 2021Ganglioneuroma, a rare neural crest-derived tumor, exhibits a benign profile in contrast to other neuroblastic tumors (neuroblastoma/ganglioneuroblastoma).... (Review)
Review
Ganglioneuroma, a rare neural crest-derived tumor, exhibits a benign profile in contrast to other neuroblastic tumors (neuroblastoma/ganglioneuroblastoma). Ganglioneuromas can be found anywhere autonomic ganglia are located, mostly abdominal/pelvic sites followed by the adrenal glands (one-third of cases), mediastinum/thorax and cervical area. Affecting especially children more than 10 years of age, Ganglioneuroma is either asymptomatic or may cause local compressive effects; rarely inducing nonspecific abdominal complains or arterial hypertension related to oversecretion of epinephrine/norepinephrine/dopamine. Despite a good prognosis, adrenalectomy is necessary in order to rule out a malignancy. Open procedure represents the standard therapeutic option; alternatively, centers with large laparoscopic pediatric experience and good stratification protocols have reported successful procedures. High uptake of I-MIBG is associated with a more severe outcome in cases with increased mitotic index. In neuroblastic tumors, neuron-specific enolase >33 ng/ml, age at diagnosis <49 months, and blood vessel invasion indicate a poor prognosis. Concurrent extra-adrenal/adrenal ganglioneuroma is associated with a more severe prognosis; post-surgical complications are more frequent in non-adrenal vs. adrenal ganglioneuroma. Exceptionally, immune-mediated paraneoplastic neurologic syndromes have been reported: anti-N-methyl-D-aspartate receptor encephalitis and opsoclonus-myoclonus-ataxia syndrome. ROHHAD syndrome is the underlying cause in 40-56% of cases of neuroendocrine tumors including ganglioneuroma; 70% of tumors are diagnosed within the first 24 months after hypothalamic obesity onset, associated with a severe prognosis due to hypoventilation, sleep apnea, and dysautonomia. Recently, the PKB/AKT/mTOR/S6 pathway was identified as a tumorigenic pathway in pediatric ganglioneuroma, not in neuroblastoma; mTOR inhibitors are a potential option for pre-operatory tumor shrinkage. Pediatric adrenal ganglioneuroma has a good prognosis if adequately treated; its recognition requires adrenalectomy. Further development of specific biomarkers is needed. In the present article, we aimed to introduce a review of the literature involving adrenal ganglioneuroma based on a practical, multidisciplinary perspective of prognostic factors.
PubMed: 34630692
DOI: 10.3892/etm.2021.10773 -
Medical Science Monitor : International... Jul 2019BACKGROUND This study evaluated the imaging features of ganglioneuroma (GN) and assessed the diagnostic value of the enhancement rate (ER) of CT for GN. MATERIAL AND...
BACKGROUND This study evaluated the imaging features of ganglioneuroma (GN) and assessed the diagnostic value of the enhancement rate (ER) of CT for GN. MATERIAL AND METHODS We retrospectively reviewed records of 49 patients with histopathologically confirmed GN who underwent preoperative contrast-enhanced CT or MRI between 2010 and 2018. The independent samples t test and chi-square test were used. Receiver operating characteristic (ROC) curves were generated to analyze the diagnostic sensitivity (SE) and specificity (SP). Positive predictive value (PPV) and negative predictive value (NPV) were calculated. RESULTS The CT values were 32.59±3.61 Hounsfield units (HU) for plain scans, 38.87±5.09 HU for the arterial phase, and 54.26±8.14 HU for the venous phase, and the incidence of calcification and cysts was 32.6% and 10.2%, respectively. There was no significant difference in CT results and clinical parameters between mediastinal ganglioneuroma (MGN) and retroperitoneal ganglioneuroma (RGN) (p>0.05). The area under the curves (AUCs) for the arterial enhancement rate (AER), venous enhancement rate (VER), and AER/VER combined index in diagnosing GN were 0.735, 0.980, and 0.990, respectively. The VER of 0.2819 exhibited the SE and SP at 92.9% and 92.9%, respectively, to characterize the GN, whereas the AER of 0.1779 had SE and SP of 52.4% and 90.5%, respectively. The SE and SP for the combined index were 88.1% and 100%, respectively. The GN showed hypointensity on T1WI, hyperintense, or slightly high signal on T2WI with the linear hypointensity, and hyperintense on DWI. CONCLUSIONS A hypodense mass was observed for GN on plain scan and presented delayed enhancement on contrast enhancement. VER or AER/VER combination is more accurate than AER for the diagnosis of paravertebral GN.
Topics: Adolescent; Adult; Child; Child, Preschool; Contrast Media; Diagnosis, Differential; Female; Ganglioneuroma; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Middle Aged; Paraspinal Muscles; ROC Curve; Retrospective Studies; Sensitivity and Specificity; Tomography, X-Ray Computed
PubMed: 31306406
DOI: 10.12659/MSM.916792 -
BMC Cancer Jul 2016Ganglioneuroma (GN) and ganglioneuroblastoma intermixed (GNBI) are mature variants of neuroblastic tumors (NT). It is still discussed whether incomplete resection of...
BACKGROUND
Ganglioneuroma (GN) and ganglioneuroblastoma intermixed (GNBI) are mature variants of neuroblastic tumors (NT). It is still discussed whether incomplete resection of GN/GNBI impairs the outcome of patients.
METHODS
Clinical characteristics and outcome of localized GN/GNBI were retrospectively compared to localized neuroblastoma (NB) and ganglioneuroblastoma-nodular (GNBN) registered in the German neuroblastoma trials between 2000 and 2010.
RESULTS
Of 808 consecutive localized NT, 162 (20 %) were classified as GN and 55 (7 %) as GNBI. GN/GNBI patients presented more often with stage 1 disease (68 % vs. 37 %, p < 0.001), less frequently with adrenal tumors (31 % vs. 43 %, p = 0.001) and positive mIBG-uptake (34 % vs. 90 %, p < 0.001), and had less often elevated urine catecholamine metabolites (homovanillic acid 39 % vs. 62 %, p < 0.001, vanillylmandelic acid 27 % vs. 64 %, p < 0.001). Median age at diagnosis increased with grade of differentiation (NB/GNBN: 9; GNBI: 61; GN-maturing: 71; GN-mature: 125 months, p < 0.001). Complete tumor resection was achieved at diagnosis in 70 % of 162 GN and 67 % of 55 GNBI, and after 4 to 32 months of observation in 4 GN (2 %) and 5 GNBI (9 %). Eleven patients received chemotherapy without substantial effect. Fifty-five residual tumors (42 GN, 13 GNBI) are currently under observation (median: 44 months). Five patients (3 GN, 2 GNBI) showed local progression; all had tumor residuals > 2 cm. No progression occurred after subtotal resection. Two patients died of treatment, none of tumor progression.
CONCLUSIONS
GN/GNBI account for one quarter of localized NT and differ from immature tumors in their clinical features. Chemotherapy is not effective. Subtotal resection appears to be a sufficient treatment.
TRIAL REGISTRATION
ClinicalTrials.gov identifiers - NB97 (NCT00017225; registered June 6, 2001); NB2004 (NCT00410631; registered December 11, 2006).
Topics: Adolescent; Age of Onset; Child; Child, Preschool; Disease Progression; Drug Therapy; Endocrine Surgical Procedures; Female; Ganglioneuroblastoma; Ganglioneuroma; Humans; Infant; Infant, Newborn; Male; Neoplasm Staging; Retrospective Studies; Time-to-Treatment; Treatment Outcome
PubMed: 27465021
DOI: 10.1186/s12885-016-2513-9 -
Korean Journal of Spine Sep 2017Presacral ganglioneuromas are extremely rare benign tumors and fewer than 20 cases have been reported in the literature. Ganglioneuromas are difficult to be...
Presacral ganglioneuromas are extremely rare benign tumors and fewer than 20 cases have been reported in the literature. Ganglioneuromas are difficult to be differentiated preoperatively from tumors such as schwannomas, meningiomas, and neurofibromas with imaging modalities. The retroperitoneal approach for resection of presacral ganglioneuroma was performed for gross total resection of the tumor. Recurrence and malignant transformation of these tumors is rare. Adjuvant chemotherapy or radiation therapy is not indicated because of their benign nature. We report a case of a 47-year-old woman with a presacral ganglioneuroma.
PubMed: 29017308
DOI: 10.14245/kjs.2017.14.3.106 -
The Journal of International Medical... Nov 2022Ganglioneuroma is a rare tumor originating from neural crest tissue of the sympathetic nervous system. We report on an approximately 55-year-old woman who was admitted... (Review)
Review
Ganglioneuroma is a rare tumor originating from neural crest tissue of the sympathetic nervous system. We report on an approximately 55-year-old woman who was admitted to hospital with abdominal pain. Surgery revealed a tumor in her right ureter, which was pathologically confirmed as a ganglioneuroma. The patient underwent transabdominal total hysterectomy, bilateral adnexal resection, release of pelvic and intestinal adhesions, right ureteroscopy, right ureter retrograde intubation, right ureteral lesion excision, and ureteral anastomosis. A literature review indicated that most ganglioneuromas are benign tumors. Clinicians may consider total or subtotal tumor resection, depending on the tumor location and patient's condition. The patient's clinical condition may improve after surgery combined with periodic long-term follow-up.
Topics: Humans; Female; Middle Aged; Ganglioneuroma; Ureter
PubMed: 36412222
DOI: 10.1177/03000605221123671