scholarly journals A173 RECOGNIZING RARE PRESENTATIONS OF POLYPOSIS SYNDROMES AND THEIR ASSOCIATED MALIGNANCIES IN PEDIATRIC PATIENTS

2020 ◽  
Vol 3 (Supplement_1) ◽  
pp. 38-39
Author(s):  
N E Reitzel ◽  
M Sherlock ◽  
M Zachos ◽  
J Arredondo ◽  
E Ratcliffe

Abstract Background There is a range of polyposis syndromes and presentations in pediatrics. There are also associated extra-colonic malignancies of which to be cognizant when orchestrating the initial work-up of the various polyposis syndromes. Aims To use case review to highlight the importance of recognizing the breadth of presentations of polyposis syndromes in pediatrics. Methods Two recent pediatric presentations of polyposis with extra-intestinal manifestations were identified, chart review completed, and compared with newly published ESPGHAN guidelines. Results Two patients with intestinal polyposis are presented, in which extra-colonic malignancies and genetic mutations were identified. The first patient presented at age 16 with a history of fatigue and abdominal pain, and was found to have pancytopenia and splenomegaly. Initial work up included a bone marrow biopsy that was normal. The patient then underwent upper and lower endoscopic evaluation for increasing abdominal pain and persistent anemia and was found to have polymorphic polyps in the duodenum, sigmoid and rectum. On pathology, polyps were mostly inflammatory, but one was found to be hamartomatous. Additional screening revealed a thyroid nodule, found to be follicular carcinoma, requiring hemithyroidectomy. The patient was confirmed to have a PTEN mutation and was diagnosed with Cowden syndrome; following this diagnosis proceeded with a prophylactic bilateral mastectomy. The second patient was referred at age 15 with a strong family history of APC-associated FAP. At the time of consultation she was asymptomatic and she remained so throughout her work-up. Screening endoscopy revealed 70–90 recto-sigmoid adenomatous polyps as well as scattered gastric and duodenal polyps. Her initial work-up also uncovered an early papillary thyroid carcinoma. Her treatment included a total thyroidectomy and total proctocolectomy with J-pouch and ileoanal anastomosis. Follow-up endoscopy continues for surveillance of numerous gastric adenomas which to this point have not progressed to high-grade dysplasia or malignancy. Conclusions These 2 cases highlight the importance of recognizing that neoplastic conditions typically diagnosed in adulthood can also present in the pediatric age group. Ideally, further guidelines in pediatrics would be beneficial to ensure a consistent approach to investigating polyposis and associated malignancies. Pertaining to our specific patients, each had identification of a thyroid malignancy before the recommended screening age of 18 as per the currently accepted guideline, and neither were symptomatic. More cases are needed to establish if this earlier recognition of disease is meaningful in postulating potential mortality associated with a later diagnosis. Funding Agencies None

Author(s):  
Sonia Canadas ◽  
Rita Fernandes ◽  
Hugo Almeida ◽  
João Santiago Correia

Cystic mesotheliomas (also called mesothelial inclusion cysts) are rare benign neoplasms that occur more often in young women. Symptoms are usually non-specific, demanding a thorough work-up. We report a case of a 40-year-old female patient with 2 prior caesarean sections presenting with a 3-month history of abdominal pain. Laboratory tests revealed microcytic hypochromic anaemia and an elevated tumour marker CA-125. An investigation identified a large cystic abdominal mass, mostly in the left side of the abdomen. A laparotomy was performed with total resection of the lesion. Histological assessment resulted in a diagnosis of a mesothelial inclusion cyst. The patient had no recurrence after 3 years.


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. i18-i24
Author(s):  
Jared S Fridley ◽  
Sohail Syed ◽  
Tianyi Niu ◽  
Owen P Leary ◽  
Ziya L Gokaslan

Abstract Metastatic spine disease occurs in more than 10% of all cancer patients. Advances in systemic treatment for cancer has led to improved overall survival for many types of cancer, which has increased the overall incidence of spinal metastases. The most common presenting complaint of patients with spinal metastases is pain. Pain originating from spinal metastases can be oncological, mechanical, and/or neurological in nature. Early recognition of these symptoms is helpful to guide treatment and accurately gauge patient prognosis. Unfortunately, the prevalence of degenerative back pain in the general population can complicate early clinical recognition of patients with metastatic spine disease. Therefore, back pain in any patient with a history of malignancy should prompt clinicians to perform an expedited workup for metastatic disease of the spine. Diagnostic imaging and laboratory studies are part of the initial work up. Obtaining pathology via biopsy to establish tumor histology is essential to determine the appropriate treatment.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Maria Guia Estrella dela Cruz Almeda

Abstract This is a case of a 41 year old Filipino female, with one month history of palpitations, unintentional weight loss and increased frequency of bowel movement. Patient was tachycardic and had a slightly enlarged thyroid on physical exam. There were no cushingoid or acromegalic features. Initial work-up revealed elevated TSH 7.10 U/mL prompting referral to an endocrinologist who had an initial consideration of central hyperthyroidism, MRI was done revealing a pituitary adenoma with dimensions of 7.4 x 11 x 5.8 mm. Prolactin level was at 118.9 ng/mL, gonadotropins (FSH 5 mIU/mL, LH 4.3 IU/L) were within normal range for pre-menopausal non pregnant women and early 24h urine cortisol was within normal at 63.79 nmol/ day. Patient was started on propranolol 40 mg thrice daily and methimazole 20 mg twice a day which prompted slight relief. She was also referred to neurosurgery service for further management. Patient underwent transsphenoidal surgery which was tolerated well. Subsequent clinical course revealed improvement of hyperthyroid symptoms with no evidence of post-operative complications such as hematomas, CSF leak, vision loss, diabetes insipidus or central adrenal insufficiency. Immunohistochemical staining was positive for TSH. On outpatient follow-up, repeat thyroid function tests were within normal with TSH 1.260 and free T4 15.07 pmol/L. Patient is currently symptom free and off methimazole or propranolol. Future plans include a repeat MRI after 6 months of surgery and hormonal testing to confirm cure.


2021 ◽  
pp. 1-4
Author(s):  
Aravind Reddy Kuchkuntla ◽  

Castleman Disease (CD) is a spectrum of heterogenous hematological diseases that share characteristic clinical, histopathological, and immunological features. We present a case of a 61-y female with history of non-Hodgkin Lymphoma and hypothyroidism presenting with fatigue, generalized weakness, nausea, and poor appetite. On admission, physical examination was unremarkable, and labs were notable for hyperkalemia, hyperuricemia and worsening renal function. Imaging showed lymphadenopathy in neck, mediastinum, and left axilla along with mediastinal and retroperitoneal lymphadenopathy. Initial work up of serum electrophoresis was suggestive of multiple myeloma however bone scan did not reveal any lytic lesions. As biopsy results were pending, patient developed worsening cytopenia’s and a repeat serum electrophoresis showed a M spike with IgG lambda against a polyclonal background. Bone marrow biopsy showed polytypic plasmacytosis that was negative for HHV 8 and lymph node biopsy also showed polytypic plasmacytosis. Further work confirmed the diagnosis of idiopathic multicentric Castleman disease and patient was treated with silutuximab and responded well.


2021 ◽  
Vol 8 (4) ◽  
pp. 65-68
Author(s):  
Syed Sajid Hussain Shah ◽  
Yousaf Aziz Khan ◽  
Bibi Aalia

Malrotation of the gut can present at any age but the majority of patients present in neonatal period or early infancy. Most children present with a history of recurrent colicky abdominal pain, vomiting which can be bilious and failure to thrive. Delay in diagnosis leads to increase in mortality and morbidity. Here we present a series of three patients, one girl aged 6 years, one 10 months old boy and one 10 years old boy, who got admitted at our Pediatric Department in a one month period. Patients had a history of recurrent abdominal pain and occasional vomiting, seen and managed by multiple paediatricians and GP doctors with extensive diagnostic workup but never the accurate diagnosis was made. Thorough history was taken and examination done, planned work up done for diagnosis. High index of suspicion is needed in children presenting with recurrent pain in the abdomen. Targeted work-up should be done and patients be kept on follow-up for diagnosis of late presentation of congenital malrotation of the gut.


2019 ◽  
Vol 98 (8) ◽  
pp. 326-327 ◽  

Introduction: The umbilical vein can become recanalised due to portal hypertension in patients with liver cirrhosis but the condition is rarely clinically significant. Although bleeding from this enlarged vein is a known complication, the finding of thrombophlebitis has not been previously described. Case report: We report the case of a 62-year-old male with a history of liver cirrhosis due to alcoholic liver disease presenting to hospital with epigastric pain. A CT scan of the patient’s abdomen revealed a thrombus with surrounding inflammatory changes in a recanalised umbilical vein. The patient was managed conservatively and was discharged home the following day. Conclusion: Thrombophlebitis of a recanalised umbilical vein is a rare cause of abdominal pain in patients with liver cirrhosis.


2015 ◽  
Vol 18 (3) ◽  
pp. 088
Author(s):  
Ye-tao Li ◽  
Xiao-bin Liu ◽  
Tao Wang

<p class="p1"><span class="s1">Mycotic aneurysm of the superior mesenteric artery (SMA) is a rare complication of infective endocarditis. We report a case with infective endocarditis involving the aortic valve complicated by multiple septic embolisms. The patient was treated with antibiotics for 6 weeks. During preparation for surgical treatment, the patient developed acute abdominal pain and was diagnosed with a ruptured SMA aneurysm, which was successfully treated with an emergency operation of aneurysm ligation. The aortic valve was replaced 17 days later and the patient recovered uneventfully. In conclusion, we present a rare case with infective endocarditis (IE) complicated by SMA aneurysm. Antibiotic treatment did not prevent the rupture of SMA aneurysm. Abdominal pain in a patient with a recent history of IE should be excluded with ruptured aneurysm.</span></p>


2020 ◽  
pp. 1-3
Author(s):  
Jinping Xu ◽  
Jinping Xu ◽  
Ruth Wei ◽  
Salieha Zaheer

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.


2020 ◽  
Vol 13 (11) ◽  
pp. e236429
Author(s):  
Bankole Oyewole ◽  
Anu Sandhya ◽  
Ian Maheswaran ◽  
Timothy Campbell-Smith

A 13-year-old girl presented with a 3-day history of migratory right iliac fossa pain. Observations and inflammatory markers were normal, and an ultrasound scan was inconclusive. A provisional diagnosis of non-specific abdominal pain or early appendicitis was made, and she was discharged with safety netting advice. She presented again 6 days later with ongoing abdominal pain now associated with multiple episodes of vomiting; hence, the decision was made to proceed to diagnostic laparoscopy rather than a magnetic resonance scan for further assessment. Intraoperative findings revealed 200 mL of serous fluid in the pelvis, normal-looking appendix, dilated stomach and a tangle of small bowel loops. Blunt and careful dissection revealed fistulous tracts that magnetised the laparoscopic instruments. A minilaparotomy was performed with the extraction of 14 magnetic beads and the repair of nine enterotomies. This case highlights the importance of careful history taking in children presenting with acute abdominal pain of doubtful aetiology.


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