scholarly journals Hepatoblastoma With Rubinstein-Taybi Syndrome: A Rare Association

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S55-S55
Author(s):  
J Arshi ◽  
D Allison ◽  
D Rao
Keyword(s):  
Molecular Mechanisms ◽  
Pediatric Population ◽  
Malignant Neoplasm ◽  
Rare Occurrence ◽  
Granular Cytoplasm ◽  
Undifferentiated Cells ◽  
Right Lobe ◽  
The Right ◽  
Caucasian Female

Abstract Introduction/Objective Hepatoblastoma is a malignant neoplasm of liver, exclusively seen in pediatric population. It has been known to occur with various syndromes like Li-fraumeni, Beckwith-Wiedemann, and Simpson-Golabi- Behmel among others. Small undifferentiated cells and macro-trabecular pattern with increased mitotic activity and AFP>100 are associated with unfavorable prognosis. Rubinstein-Taybi syndrome is a rare genetic disease. Even though there has been intensive research on the genetic and epigenetic function of the CREBBP and EP300 genes in animal models, the etiology of this rare and devastating syndrome is largely unknown. Hepatoblastoma with Rubinstein-Taybi syndrome is an extremely rare occurrence. Methods Here we present an incidental case of Hepatoblastoma with Rubinstein-Taybi syndrome Results A 17-month-old Caucasian female with Rubinstein-Taybi syndrome, was found to have an incidental 1.1 cm nodule in the right lobe of liver. Her AFP was elevated (244.9ng/ml). Hepatic resection revealed a well-circumscribed tan white mass, measuring 3.5 cm in the greatest dimension. On microscopy, uniform round to cuboidal cells resembling fetal hepatocytes, with finely granular cytoplasm, small round nuclei, and indistinct nucleoli were seen. The cells were arranged in solid sheets and scant trabecular arrangement separated by narrow sinusoids. The tumor displayed predominantly fetal histology, with rare embryonal and small undifferentiated cell nests. The diagnosis of Hepatoblastoma was made. The patient underwent chemotherapy and was doing well at 5-years follow-up. Conclusion Extensive screening of patients in recent times has revealed mutations in CREBBP and EP300 in only around 50% of cases. The genetic and epigenetic associations of the syndrome in the remaining half of cases remains to be identified. Hepatoblastoma with Rubinstein-Taybi Syndrome is an extremely rare occurrence and might shed some light on other genes that could be involved in this syndrome. Further studies to review the mutation spectrum to understand the causative molecular mechanisms are deemed essential.

scholarly journals Giant adrenal hemangioma: Unusual cause of huge abdominal mass

2015 ◽  
Vol 9 (11-12) ◽  
pp. 834 ◽  
Author(s):  
Mohamed Tarchouli ◽  
Adil Boudhas ◽  
Moulay Brahim Ratbi ◽  
Mohamed Essarghini ◽  
Noureddine Njoumi ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Abdominal Mass ◽  
Abdominal Distension ◽  
Microcytic Anemia ◽  
Hypochromic Microcytic Anemia ◽  
Normal Limits ◽  
Laboratory Examinations ◽  
Right Lobe ◽  
The Right

Adrenal hemangioma is an extremely rare benign and non-functioning neoplasm of the adrenal gland. We report a case of a 71-year-old woman admitted for intermittent abdominal pain and abdominal distension associated with vomiting and chronic constipation for 5 years. Physical examination revealed a large abdominal mass. Both computed tomography scan and magnetic resonance imaging suggested hemangioma in the right lobe of the liver. Laboratory examinations and tumour markers were within normal limits, except for hypochromic microcytic anemia. The mass was removed intact by conventional surgery and histopathology revealed a cavernous hemangioma of the adrenal gland with no signs of malignancy. Surgical resection was curative, with no recurrence at the 2-year follow-up.

scholarly journals Pediatric Parathyroid Carcinoma: A Case Report and Review of the Literature

2019 ◽  
Vol 3 (12) ◽  
pp. 2224-2235 ◽  
Author(s):  
Aditya Dutta ◽  
Rimesh Pal ◽  
Nimisha Jain ◽  
Pinaki Dutta ◽  
Ashutosh Rai ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Serum Calcium ◽  
Parathyroid Carcinoma ◽  
Pediatric Population ◽  
Surgical Excision ◽  
Neck Mass ◽  
Hormone Levels ◽  
Metastatic Relapse ◽  
Right Lobe ◽  
The Right

Abstract Primary hyperparathyroidism (PHPT) is a rare endocrine disease in the pediatric population. Sporadic parathyroid adenomas remain the most common cause of pediatric PHPT. Parathyroid carcinoma (PC) is an extremely rare cause of pediatric PHPT. We report a 16-year-old boy presenting with a nonhealing fragility fracture of the right leg along with florid features of rickets. Examination revealed a neck mass, mimicking a goiter. Biochemical findings were consistent with PHPT. Imaging was suggestive of a right inferior parathyroid mass infiltrating the right lobe of thyroid. The patient underwent en bloc surgical excision of the parathyroid mass along with the right lobe of thyroid. Histopathology was suggestive of a PC. He achieved biochemical remission with normalization of serum calcium and parathyroid hormone levels. At follow-up, there was no biochemical or imaging evidence of recurrence or metastasis. Genetic analysis revealed heterozygous germline deletion of CDC73. An extensive literature search on PC was conducted, with an emphasis on the pediatric population. Thirteen cases of pediatric PC were identified. The median age of presentation was 13 years; there was no sex predilection. All cases were symptomatic; 31% had a visible neck mass. The median serum calcium and intact parathyroid hormone levels were 14.3 mg/dL and 2000 pg/mL, respectively. All patients underwent surgical excision, with 27% showing metastatic relapse. Our findings indicate that the preoperative features that could point toward a diagnosis of PC in a child with PHPT are a tumor size of >3 cm, thyroid infiltration on imaging, and severe hypercalcemia at presentation.

scholarly journals Radiofrequency Energy in Hepatic Bed during Partial Cystectomy for Hydatid Liver Disease: Standing Out from the Usual Conservative Surgical Management

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Eleftherios Mantonakis ◽  
Alexandros Papalampros ◽  
Demetrios Moris ◽  
Nikolaos Dimitrokallis ◽  
Panagiotis Sakarellos ◽  
...  
Keyword(s):  
Liver Disease ◽  
Postoperative Morbidity ◽  
Effective Means ◽  
Partial Cystectomy ◽  
Radiofrequency Energy ◽  
Recurrence Rates ◽  
Right Lobe ◽  
The Mean ◽  
The Right

Background. Surgical treatment of hydatid liver disease (HLD) is divided into conservative and radical procedures. While conservative techniques are easier and faster to perform, there is an emerging need to reduce their morbidity and recurrence rates. Our aim was to present and evaluate the efficiency and safety of the application of radiofrequency energy (TissueLink® and Aquamantys® systems) in hepatic bed during partial cystectomy.Materials and Methods. Eighteen consecutive patients with hydatid liver cysts were referred to our department between April 2006 and June 2014. Data about demographics, mortality, morbidity, and recurrence rate were obtained and analyzed retrospectively.Results. The mean follow-up was 38 months (range: 4–84 months). The postoperative course of most patients was uneventful. One case of recurrence was found in our series in a patient with 4 cysts in the right lobe, 3 years after initial treatment. He was reoperated on with the same method.Conclusions. Saline-linked RF energy seems to be an effective means to be employed in conservative surgical procedures of HLD, with satisfactory postoperative morbidity. Recurrence rates appear to be low, but further follow-up is needed in order to draw safer conclusions.

scholarly journals Traumatic scleral wound dehiscence with filtering bleb formation after surgical repair of penetrating globe injury

2013 ◽  
Vol 5 (1) ◽  
pp. 136-137 ◽  
Author(s):  
A Ozkaya ◽  
Z Alkin ◽  
Y Acet ◽  
U Yigit
Keyword(s):  
Surgical Repair ◽  
Ocular Trauma ◽  
Anterior Segment ◽  
Wound Dehiscence ◽  
Rare Occurrence ◽  
Filtering Bleb ◽  
Bleb Formation ◽  
The Right ◽  
Blunt Ocular Trauma

Backgropund: Filtering bleb formation after surgical repair of penetrating globe injury is a rare occurrence. Case: A 45-year-old male who had undergone surgical repair of a corneoscleral laceration 16 months earlier presented to emergency room after blunt trauma to the left eye. His best-corrected visual acuities were 20/20 in the right eye and 20/25 in the left. An anterior segment examination found a conjunctival filtering bleb formation on scarred sclera at superotemporal location near the limbus. Anterior chamber was slightly shallow and the Seidel test was negative. Intraocular pressures were 17 mm Hg in the right eye, 7 mm Hg in the left. The fundus examination revealed no abnormal findings. The patient was treated with topical aplication of a steroid and a cycloplegic drop during three weeks. After 16 months follow-up, the visual acuity remained unchanged with the persistence of filtering bleb. IOP was 8 mm Hg in the left eye. Follow-up examinations showed no complications related to trauma. Conclusion: Blunt ocular trauma can cause dehiscence in old scleral scars and subsequent filtering bleb formation. Nepal J Ophthalmol 2013; 5(9):136-137 DOI: http://dx.doi.org/10.3126/nepjoph.v5i1.7843

Thyroid Hemiagenesis and Papillary Carcinoma: A Rare Association

2010 ◽  
Vol 2 (3) ◽  
pp. 145-147
Author(s):  
Tammaro P ◽  
Nunziante M ◽  
Del Prete M ◽  
Asciore L ◽  
Nappi F ◽  
...  
Keyword(s):  
Papillary Carcinoma ◽  
Central Compartment ◽  
Left Lobe ◽  
Primary Hypothyroidism ◽  
Rare Occurrence ◽  
Thyroid Lobe ◽  
Rare Association ◽  
Thyroid Hemiagenesis ◽  
The Right

ABSTRACT Hemiagenesis is the least frequent thyroid congenital anomaly. We report the case of a primary hypothyroidism due to thyroid hemiagenesis in a patient for whom, later on, a papillary carcinoma of the contralateral lobe was diagnosed. A child with known left lobe thyroid agenesis was found to have a 12 mm nodule in the right thyroid lobe during routine follow-up. Needle biopsy demonstrated the nodule to represent a papillary thyroid cancer and total thyroidectomy and lymphadenectomy of the central compartment was undertaken. Such event represents an extremely rare occurrence since there are only five other reports in literature that deal with a papillary carcinoma in a patient with thyroid hemiagenesis.

scholarly journals Follow-up of a case of subacute thyroiditis with uncommon thyroid 99mTc uptake

2013 ◽  
Vol 57 (8) ◽  
pp. 659-662 ◽  
Author(s):  
Zhe Zhang ◽  
Chengjiang Li
Keyword(s):  
Thyroid Gland ◽  
Interstitial Fibrosis ◽  
Left Lobe ◽  
Subacute Thyroiditis ◽  
Short Course ◽  
Right Lobe ◽  
The Right ◽  
Inflammatory Changes ◽  
Cellular Destruction

Thyroidal 99mTc uptake in the acute thyrotoxic phase of subacute thyroiditis (SAT) is always inhibited. However, a patient with SAT had signs in the right-side thyroid gland with transient thyrotoxicosis and slightly high 99mTc uptake levels in the right lobe, low 99mTc uptake in the left lobe, and normal overall uptake. Histological examination showed cellular destruction and granulomatous inflammatory changes in the right lobe, with marked interstitial fibrosis in the left lobe. The patient was thyrotrophin-receptor antibody (TRAb) positive. After a short course of prednisolone, SAT-like symptoms and signs improved. TRAb-positivity resolved spontaneously after 22 months, and TSH levels were slightly low for 22 months. Levels then kept normal in the following four years. In conclusion, high 99mTc uptake by the right lobe was due to the combined effects of TRAb and left thyroid gland fibrosis.

scholarly journals Roux En Y drainage of a large hepatic hydatid cyst as treatment for recalcitrant bile leak: a case report

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Saswati Behera ◽  
Monika Bawa ◽  
Ravi P. Kanojia ◽  
Ashwani Sood ◽  
Ram Samujh
Keyword(s):  
Hydatid Cyst ◽  
Bile Leak ◽  
Mass Effect ◽  
Hepatobiliary Scintigraphy ◽  
Satisfactory Condition ◽  
Hida Scan ◽  
Enteric Drainage ◽  
Right Lobe ◽  
The Right

Abstract Background Hydatid disease is relatively uncommon in children and thus rarely reported in literature. Pediatric patients with large hydatid cysts can have grave complications due to mass effect. Postoperative bile leak is the most common morbidity and continues to be a challenge for the treating surgeon. Case presentation A 7-year-old boy diagnosed with a giant hydatid cyst of the liver, almost replacing the right lobe, and underwent a laparotomy and excision of cyst with tube drainage. He developed postoperative major bile leak which did not subside even after a redo laparotomy and closure of the suspected bile leak areas. The child underwent a third laparotomy after a hepatobiliary scintigraphy (HIDA scan) which confirmed a persisting major leak. A Roux En Y cystojejunostomy was done this time which drained the bile adequately postoperatively with no evidence of bile in the subhepatic drain. Oral feeds were resumed on the fifth postoperative day. He was discharged in a satisfactory condition and is doing well in the follow-up. Repeat HIDA scan showed no evidence of spillage, with adequate bilio-enteric drainage. Conclusion Persistent major bile leak requiring ERCP with sphincterotomy can be managed successfully in children by internal drainage as Roux En Y cystojejunostomy.

scholarly journals Percutaneous internal suturing procedure for a posttraumatic abdominal wall “handlebar hernia”

2021 ◽  
Vol 70 (1) ◽  
pp. 80-83
Author(s):  
Maria Popescu ◽  
◽  
Gabriel Dragan ◽  
Keyword(s):  
Abdominal Wall ◽  
Pediatric Population ◽  
Traumatic Injury ◽  
Internal Ring ◽  
Lower Quadrant ◽  
Handlebar Hernia ◽  
Suturing Technique ◽  
The Right ◽  
Right Lower Quadrant

Posttraumatic abdominal wall hernias are extremely rare and are the result of the wall impact with an object that does not break the skin but has enough energy to disrupt the underlying muscular and fascia layers. One of the most frequent mechanisms for the pediatric population is the handle bar traumatic injury. We present the case of a 13-year-old male patient that was diagnosed with posttraumatic handlebar hernia in the right lower quadrant after performing a CT scan examination. The chosen surgical procedure was to repair the abdominal defect using an adaptation of the PIRS (percutaneous internal ring suturing) suturing technique assisted laparoscopically. The follow up of the case was uneventful.

scholarly journals The first case of papillary thyroid carcinoma in an adolescent with congenital dyshormonogenetic hypothyroidism in Serbia

2014 ◽  
Vol 71 (11) ◽  
pp. 1078-1080 ◽  
Author(s):  
Jelena Eremija ◽  
Tatjana Milenkovic ◽  
Katarina Mitrovic ◽  
Sladjana Todorovic ◽  
Rade Vukovic ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Differentiated Thyroid Carcinoma ◽  
Pathological Examination ◽  
Pediatric Malignancy ◽  
First Case ◽  
Thyroid Papillary ◽  
Right Lobe ◽  
The Right

Introduction. Differentiated thyroid carcinoma (DTC) is a rare childhood malignancy, as it represents 0.3-0.4% of pediatric malignancies. Papillary carcinoma is the most common type of pediatric DTC and it represents about 90% of all DTC patients. Although rare, DTC arising from dyshormonogenetic goiter is the most serious complication of congenital hypothyroidism. Case report. We presented the development of thyroid papillary carcinoma in a 15-year-old girl diagnosed with congenital dyshormonogenetic hypothyroidism at neonatal age. Considering the early initiation and proper dosage of hormonal substitution, normal levels of thyreotropin and thyroid hormones were achieved quickly and maintained through a follow-up period. The girl remained euthyroid and asymptomatic until 13.8 years of age, when she presented with a large multinodular goiter. The patient underwent total thyroidectomy. Pathological examination revealed intrathyroid microcarcinoma in the right lobe. Conclusion. Although differentiated thyroid carcinoma is a rare pediatric malignancy, it is of great importance to have a certain degree of clinical caution and provide a multidisciplinary approach during the follow-up of patients with dyshormonogenetic hypothyroidism.

scholarly journals Oral Floor and Gingival Metastasis of Cholangiocarcinoma: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Yukihiro Nakanishi ◽  
Bo Xu ◽  
Charles LeVea
Keyword(s):  
Oral Cavity ◽  
Pulmonary Nodules ◽  
Unusual Site ◽  
Poorly Differentiated Adenocarcinoma ◽  
Gingival Metastasis ◽  
Poorly Differentiated ◽  
Right Lobe ◽  
Gingival Mucosa ◽  
The Right ◽  
Caucasian Female

The oral cavity is very unusual site of metastases even though wide spread metastatic disease may be present. The most common primary sites that metastasize to the oral cavity are lung, kidney, breast, and hepatocellular carcinoma. We present a rare case of a 77-year-old Caucasian female with metastasis from a cholangiocarcinoma to the oral floor contiguous with lingual gingival mucosa. The patient presented with left sided rib pain. A CT scan of the chest, abdomen, and pelvis showed multiple pulmonary nodules and a single dominant mass in the right lobe of the liver. This tumor was 6.5 cm with multiple satellite lesions surrounding it. The liver biopsy was diagnostic of a moderately to poorly differentiated adenocarcinoma, consistent with a primary cholangiocarcinoma. After undergoing one cycle of gemcitabine chemotherapy, the patient noticed an extremely rapidly growing mass involving her right lower gingiva and the entire right floor of her mouth. The biopsy of that mass also showed a moderately to poorly differentiated adenocarcinoma. The gingival tumor had a similar cytomorphology and immunophenotype as her cholangiocarcinoma. Therefore, an unusual site for metastatic cholangiocarcinoma was confirmed.

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