scholarly journals A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception

Author(s):  
Anuradha Sekaran ◽  
Amruta Patil ◽  
Mahesh Shetty ◽  
Guduru Venkat Rao ◽  
Duvvur Nageshwar Reddy

Ganglioneuromas are benign neurogenic neoplasms commonly seen in children which are originating from neural crest cells of sympathetic ganglia or adrenal medulla. Rarely, they may arise from the visceral organs like intestine. Diffuse intestinal ganglioneuromatosis is a rare disease, caused due to abnormal proliferation of ganglion cells, nerve fibres and schwann cells in the wall of intestine. Author hereby present a case of diffuse intestinal ganglioneuromatosis in an 18-month-old male child who presented with symptoms of small bowel obstruction. Resected segment of ileocecal junction revealed ulcero-nodular areas which on microscopy showed diffuse hyperplasia of nerve bundles and ganglion cells with immunohistochemistry confirmation. Intestinal ganglioneuromatosis is a rare condition having syndromic association with MEN-2B, Neurofibromatosis-1 and Cowden syndrome. As this disease has a low clinical suspicion, very nonspecific symptoms and radiological findings, histopathological examination becomes mainstay in diagnosis. Further workup is essential to rule out presence of associated syndromes.Surgical excision is the ultimate treatment with screening for genetic abnormalities.

2019 ◽  
Vol 12 (11) ◽  
pp. e231495
Author(s):  
Regi Kurien ◽  
Leah Thomas ◽  
Lalee Varghese ◽  
Bijesh Ravindran Nair

Cholesteatoma of the paranasal sinus is a very rare condition. As in the tympanomastoid region where cholesteatomas are a common entity, the paranasal sinus cholesteatomas also tend to erode the surrounding bony structures. Because of the extensive bony erosion, this condition often masquerades as a chronic granulomatous or a malignant lesion. Clinical presentation can be quite varied like facial deformities, visual and neurological deficits. Radiological findings are also non-specific making a preoperative diagnosis challenging. Histopathological examination is the only confirmatory investigation. We present a patient with frontal cholesteatoma who presented with forehead swelling of 1 month duration. Since the diagnosis could be obtained only intraoperatively, the patient required multiple surgeries. Frontal sinus cholesteatomas often require a combined endoscopic and external approach to ensure complete disease clearance. Periodic follow-up is essential to rule out recurrence.


2018 ◽  
Vol 40 (3) ◽  
pp. 291-295
Author(s):  
João Onofre Trindade Filho ◽  
Kaline Daniele de Souza Amaro ◽  
Allana Desirée Teixeira de Oliveira ◽  
Cecília Neta Alves Pegado Gomes ◽  
Hermann Ferreira Costa ◽  
...  

ABSTRACT Introduction: Sarcoidosis is a systemic inflammatory disease of unknown etiology, characterized by the presence of non-caseating granulomas in several organs; renal impairment alone is a rare condition. When it affects the kidneys, the most prevalent manifestations are hypercalcemia and hypercalciuria. This paper aims to address the topic of renal sarcoidosis, by means of a case report, and reinstate the importance of histopathology in its diagnosis. Methods: The data came from an observational clinical study with a qualitative approach, through an interview with the renal sarcoidosis patient and data from her medical records. Case report: Patient D.M.S., 50 years old, Caucasian, presented with reddish eyes and body pains lasting for fifteen days as first manifestations of the disease. Upon kidney ultrasound scan, we found renal parenchymal nephropathy. Serial renal function and metabolic tests reported anemia and progressive urea and creatinine changes, as well as hypercalcemia and hypercalciuria, confirming acute kidney failure (AKF). A histopathological examination suggested the diagnosis, which was confirmed by clinical, laboratory and histopathological data. There was therapeutic resolution after steroid therapy. Discussion: The symptomatology of sarcoidosis is diverse and often non-specific. Renal manifestation, which usually occurs after organ involvement, is present in less than 5% of patients, and about 1% to 2% of these patients may develop AKF. Conclusions: The use of histopathology together with clinical and laboratory data to diagnose isolated renal sarcoidosis, rule out other etiologies and introduce early treatment is of paramount importance.


2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-227081 ◽  
Author(s):  
Ashan Rabinath Fernando ◽  
Dharmabandhu Nandadeva Samarasekera ◽  
Rasika Pivithuru Bulathsinghela

Diffuse intestinal ganglioneuromatosis is a rare condition associated with MEN2B. It is also seen in conditions like neurofibromatosis type 1 and Cowden syndrome. This is a report of a patient who underwent total colectomy with end ileostomy creation for a megacolon. He was diagnosed to have diffuse ganglioneuromatosis on histological examination of the resected segment of colon. The definitive management of diffuse ganglioneuromatosis is to resect and anastomose.


2014 ◽  
Vol 04 (02) ◽  
pp. 144-146
Author(s):  
Harish S. Permi ◽  
Sandeep Rai ◽  
Padma Shetty ◽  
Sunil Kumar Y. ◽  
Kiran H. S. ◽  
...  

Abstract:Ganglioneuroma is a benign tumor that originates from primordial neural crest cells which migrate from the mantle layer of the developing spinal cord to the sympathetic ganglia, adrenal medulla, and other sites. The most affected anatomical sites are the posterior mediastinum, retroperitoneum, adrenal gland, head and neck. It occurs most commonly in children over 10 years of age and consists of ganglion and Schwann cells. We report a case of 9 – year- old male child who presented with mass per abdomen in the right hypochondrium. Fine needle aspiration cytology showed mature ganglion cells and cluster of Schwann cells suggestive of Ganglioneuroma. Cytology diagnosis was confirmed by histopathological examination of tru-cut biopsy and subsequently excised specimen. On regular follow he is doing fine without any symptoms.


Author(s):  
Summiya Farooq ◽  
Farhat Abbas ◽  
Rahat Abbas ◽  
Ambreen Beigh ◽  
Ruby Reshi ◽  
...  

Background: Xanthogranulomatoussalpingo-oophoritis is an uncommon form of chronic inflammation in the genitourinary tract. Its symptoms and radiological findings mimic ovarian malignancy. Aim of this study was to evaluate the clinicopathological pattern of xanthogranulomatous salphingo oophoritis.Methods: This study was conducted in the department of pathology, Government Medical College, Srinagar. It was a retrospective study done over a period of 5 years, November 2014 to November 2019.Results: The study was done to evaluate the clinicopathological pattern of 6 cases of rare entity xantogranulomatous salphingo oophoritis diagnosed at a tertiary care hospital. All patients, presented with pain abdomen. All patients were operated due to radiological suspicion of ovarian malignancy. Histopathological examination proved the lesion as xanthogranulomatous salphingo oophoritis.Conclusions: Xanthogranulomatoussalpingo-oophoritis is a rare condition that is often mistaken for ovarian malignancy clinically and radiologically. Oophorectomy is the recommended treatment but most women are “over treated” with staging laparotomies and hysterectomies that render them infertile.


2009 ◽  
Vol 1 (3) ◽  
pp. 77-79
Author(s):  
Mahesh Koregol ◽  
Mrutyunjaya Bellad ◽  
Chandana Malapati

ABSTRACT Partial hydatidiform mole (PHM) with a singleton live fetus is a rare condition. A live baby of 2000 grams with many external congenital anomalies like hydrocephalus, bilateral congenital talipus equino varus (CTEV), meningomyelocele and spina bifida was delivered. Placenta weighed 700 grams and PHM was confirmed by histopathological examination. Baby expired one hour after birth. Baby was sent for autopsy which documented various anomalies. Partial hydatidiform mole is a histopathological entity characterized by focal trophoblastic hyperplasia with villous hydrops together with identifiable fetal tissue. PHM with a single live fetus is a rare condition which is reported by very few authors. Not all the cases of partial mole can be detected by USG/Doppler. If any anomalies are detected, PHM should be thought among the conditions possible. MShCG and karyotyping can be done to rule out this condition. Placenta has to be sent for histopathological examination to confirm the diagnosis of PHM. These patients are prone to go in preterm labor and preterm premature rupture of membranes (PPROM). There is possibility of malpresentations like transverse lie among these cases.


2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Moutaz Ragab ◽  
Omar Nagy Abdelhakeem ◽  
Omar Mansour ◽  
Mai Gad ◽  
Hesham Anwar Hussein

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1771.3-1771
Author(s):  
I. Mahmoud ◽  
M. Moalla ◽  
A. Ben Tekaya ◽  
S. Bouden ◽  
R. Tekaya ◽  
...  

Background:Pyogenic spondylodiscitis (SPD) is a serious infection of an intervertebral disc and/or adjacent vertebrae, that remains a topical problem in rheumatological practice. Early diagnosis and treatment are the only guarantees of a favorable outcome. Clinicians must strive to isolate the responsible bacteria in order to adapt the treatment, and thus reduce the risk of resistance and complications due to SPD itself, but also to the multiplication of probabilistic treatments.Objectives:Our aim was to study the contribution of the different microbiological and anatomopathological examinations in the diagnosis of pyogenic SPD.Methods:It was a descriptive study in a single rheumatology department. Data were collected retrospectively from observations of patients hospitalized in the past 20 years who have been diagnosed with pyogenic SPD. We excluded cases of tuberculous and brucellar SPD from our study because of their completely different histological and microbiological profiles.Results:Twenty-two cases of pyogenic SPD were collected (14M/ 8F). The mean age of the population was 55.9 years [29,80]. A bacteriological survey including at least one cytobacteriological examination of the urine (CBEU), chest X-rays and blood cultures allowed the identification of the bacteria in 16 cases (73%). The most common site were bacteria was identified was blood culture in 7 cases, skin sample and urine collection in 2 cases each. Disco-vertebral puncture and biopsy (DVPB) was performed in 19 patients when there was no bacteria identification and/or when diagnosis of infectious SPD persisted doubtful. On histopathological examination, were described: an infiltrate and/or inflammatory changes without specificity signs in 7 patients and an appearance of chronic pyogenic SPD very likely in 12 patients. Bacteriological study of DVPB fluid or paravertebral abscesses sample helped to isolate bacteria in 4 patients. DVPB or abscesses puncture were contributing by histological and/or bacteriological examination in 12 patients (63%).Infecting bacteria was identified in 14 patients (64%). Gram-negative bacilli (GNB) and staphylococcus aureus were the most frequent germs (7 cases each) including 2 cases of co-infection. GNBs were represented by: Escherichia Coli and Enterobacter Cloacae in 2 cases each, Proteus Mirabilis, Serratia Marcescens and Klebsiella oxytoca in 1 case each. Clostridium clostridioforme and Lactococcus cremoris were isolated in 1 case each. For patients whose etiological investigation remained negative, SPD diagnosis was retained based on imaging (MRI) guided by anamnestic, clinico-biological and histopathological arguments.Conclusion:SPD is a rare condition that needs to be treated rapidly. Once the diagnosis is suspected, bacteria must be isolated before starting any antibiotic therapy. Simple and non-invasive exams as blood cultures, CBUE and chest rays, should be undertaken first. In fact, these simple exams allowed a germ identification in 73% cases in our study. If doubt persist, DVPB could be contributive to the diagnosis.References:NoneDisclosure of Interests:None declared


2010 ◽  
Vol 125 (1) ◽  
pp. 103-107 ◽  
Author(s):  
H S Chan ◽  
H Y Yuen ◽  
W K Ng ◽  
A C Vlantis ◽  
A T Ahuja ◽  
...  

AbstractObjectives:We report a case of otogenic fungal pachymeningitis in a diabetic patient who presented with multiple cranial nerve palsies and nasopharyngeal swelling.Methods:We present a case report, we describe the investigations, management and clinical course of fungal pachymeningitis, and we present a review of the world literature on fungal and non-fungal pachymeningitis.Results:To our knowledge, this is the first report of fungal pachymeningitis with magnetic resonance imaging features suggestive of nasopharyngeal carcinoma. It is also the first reported case with aspergillus cultured from both a dural biopsy and the ear canal.Conclusion:Fungal pachymeningitis is a rare condition which may present to otorhinolaryngologists. Its clinical and radiological findings can be confused with those of nasopharyngeal carcinoma; fungal pachymeningitis should thus be included in the differential diagnosis of nasopharyngeal carcinoma.


2021 ◽  
Vol 13 (2) ◽  
pp. 225-229
Author(s):  
Smriti Nagpal Gupta ◽  
Ruchi Goel ◽  
Ravindra Kumar Saran ◽  
Neha Rathie

Introduction: This case report describes 3 cases of unsuspected neoplasms in previously blind eyes, with recent onset pain.  Cases and observations: Case 1: Female with pain, redness in the non-seeing right eye (R/E) for  two months. R/E had total cataract, low intraocular pressure and a well-defined globular mass lesion at the posterior pole, seen on ultrasound. Enucleation with an implant was done. Histopathology clinched the diagnosis of choroidal melanoma. Case 2: A 20-year male, developed pain, redness in left eye (L/E) for  two months. L/E was blind since childhood, secondary to trauma. The patient underwent enucleation and detailed histopathological examination and immunohistochemistry supported a diagnosis of ependymoma with vascular malformation. Case 3: A 24-year male with pain, redness in L/E for six months, with decrease in size of eyeball. L/E had low vision since childhood. On examination, L/E was phthisical with diffuse conjunctival congestion, band-shaped keratopathy, cataract, and neovascularization of iris. Imaging revealed a small distorted globe with highly reflective mass along the posterior pole. Histopathology of the enucleated specimen confirmed the diagnosis of choroidal osteoma, with gliosis of the adjacent RPE.  Conclusion: In the management of a painful blind eye, it is extremely important to rule out an intraocular malignancy, particularly in patients with recent onset of pain.


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