scholarly journals PEUTZ-JEGHERS SYNDROME IN RESOURCE-LIMITED SCENARIO

2020 ◽  
Vol 57 (3) ◽  
pp. 227-231 ◽  
Author(s):  
Natascha Silva SANDY ◽  
Elizete Aparecida LOMAZI ◽  
Maria de Fátima SERVIDONI ◽  
Maria Angela BELLOMO-BRANDÃO
Keyword(s):  
Family History ◽  
Wide Spectrum ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Resource Limited ◽  
Mucocutaneous Pigmentation ◽  
Age Of Diagnosis ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome

ABSTRACT BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

Solitary Peutz-Jeghers Type Polyp of Jejunum with Gastric Fundic and Antral Gland Lining Mucosa: A Case Report and Review of Literature

2021 ◽  
pp. 106689692110677
Author(s):  
Bella Lingjia Liu ◽  
Huifang Zhou ◽  
Martina Risech ◽  
Alex Ky ◽  
Jane Houldsworth ◽  
...  
Keyword(s):  
Family History ◽  
Small Bowel ◽  
Smooth Muscles ◽  
Fundic Gland ◽  
Muscularis Mucosa ◽  
Hamartomatous Polyp ◽  
Gi Tract ◽  
First Case ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

Solitary Peutz-Jeghers type polyps are characterized by a hamartomatous polyp of the gastrointestinal (GI) tract in a patient without mucocutaneous pigmentation, family history of Peutz-Jeghers syndrome, or STK11/LKB1 mutations. Histologically identical to the polyps in Peutz-Jeghers syndrome, these sporadic polyps can arise anywhere along the GI tract, with typical arborizing smooth muscles extending from the muscularis mucosa. While the lining mucosa is generally the same as the organ in which it arises, gastric pyloric and osseous metaplasia have been reported in intestinal polyps in Peutz-Jeghers syndrome. Herein, the authors report the first case of a small intestinal solitary Peutz-Jeghers type polyp with gastric antral and fundic gland lining mucosa. A 43-year-old male was admitted for small bowel obstruction. Diagnostic laparoscopy revealed jejuno-jejunal intussusception with an associated polyp measuring 7.2 cm. Histological examination showed a hamartomatous polyp with arborizing smooth muscle bundles extending from the muscularis mucosae. The polyp was lined by non-dysplastic gastric antral and fundic gland mucosa, and was sharply demarcated from the adjacent non-polypoid intestinal mucosa. Colonoscopy, esophagogastroduodenoscopy and small bowel enteroscopy revealed no additional polyps or masses. Thorough investigation of the patient's family history was negative for Peutz-Jeghers syndrome or mucocutaneous pigmentation. Molecular analysis of the lesion was negative for STK11/LKB1 mutations. A diagnosis of solitary Peutz-Jeghers type polyp of the small bowel with gastric antral and fundic gland mucosal lining was rendered.

scholarly journals Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report

2019 ◽  
Vol 37 (3) ◽  
pp. 160-164
Author(s):  
Sayeeda Anwar ◽  
Nusrat Kamal ◽  
Rokeya Khanom ◽  
Subrota Kumar Roy ◽  
Farzana Kabir ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Autosomal Dominant ◽  
Recurrent Abdominal Pain ◽  
Hamartomatous Polyps ◽  
Recurrent Vomiting ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome ◽  
Supportive Management ◽  
Black Pigmentation

Peutz-Jeghars Syndrome (PJS), also known as peri-orificial lentiginosis, is a condition of autosomal dominant inheritance. Here, mutation localized at (19p13.3) LKB1/ STK11. It is characterized by presence of mucocutaneous pigmentation and gastrointestinal (GI) hamartomatous polyps. This case of PJS, is a 7 year old girl who came with recurrent vomiting and abdominal pain for 1 year and weight loss for 8 months. She had multiple black pigmentation over lips and buccal mucosa. Endoscopy revealed multiple polyps in stomach and duodenum. Besides supportive management, polyps were removed by surgical intervention. Biopsy of these polyps showed hamartomatous type. Post operative period was uneventful. She recovered well. So far there was no recurrence of pain. She is on regular follow up. J Bangladesh Coll Phys Surg 2019; 37(3): 160-164

scholarly journals PEDIATRIC IDIOPATHIC INTERVERTEBRAL DISC CALCIFICATION: A SINGLE INSTITUTION CASE SERIES OF A RARE DISORDER

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e41-e41
Author(s):  
Molly Dushnicky ◽  
Ronald Laxer ◽  
Abhaya Kulkarni ◽  
Manohar Shroff ◽  
Hidehiro Okura
Keyword(s):  
Intervertebral Disc ◽  
English Language ◽  
Medical Condition ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Spinal Pain ◽  
Single Institution ◽  
Intervertebral Disc Calcification ◽  
Age Range

Abstract BACKGROUND Paediatric idiopathic intervertebral disc calcification (PIIVDC) is a rare, poorly understood condition with just over 300 reported cases in the literature since the first report in 1924. The condition is characterized by calcification of an intervertebral disc which can progress to inflammation or extrusion and lead to neck or spinal pain in some patients. OBJECTIVES We report a series of patients seen at a single institution with PIIVDC and outline the disease course, management and outcome and review the literature. DESIGN/METHODS A retrospective chart review was performed at a single institution spanning the period between January 2001 and February 2016 for diagnoses of PIIVDC. Patient age, gender, symptoms, and medical history and physical and neurologic findings were reviewed. Laboratory and imaging findings, management, follow-up, and outcome were also studied. A literature review was carried out by MEDLINE and Embase, using the search terms “pediatric disc calcification” and “disc calcification in children” between the years 1997 and 2017, in the English language. Articles were reviewed and data was extracted. RESULTS Nine cases of PIIVDC were identified (6 males, 3 females) with an age range of 1 to 14 years. Two patients were asymptomatic and PIIVDC was discovered incidentally. Of the remaining patients, five presented with neck/back pain, one painless torticollis, and one painful torticollis. One patient was noted to have pain radiating along one dermatome. Disc spaces affected were five cervical, five thoracic, and two lumbar, with two patients having more than one space affected. All patients were managed conservatively. In one case, symptoms and lesions persisted after 5-years, but the remainder had complete symptom resolution, generally within 6 months. CONCLUSION Although the etiology of PIIVDC remains unknown it appears to occur spontaneously, without preceding trauma or underlying medical condition. A conservative approach to patients without severe neurologic deficit with out-patient close follow-up is supported.

Short- to Midterm Follow-up of Cemented Total Ankle Replacement Using the INBONE II: A Retrospective Chart Review

2020 ◽  
pp. 193864002091312
Author(s):  
Gregory C. Berlet ◽  
Roberto A. Brandão ◽  
Devon Consul ◽  
Pierce Ebaugh ◽  
Christopher F. Hyer
Keyword(s):  
Case Series ◽  
Retrospective Chart Review ◽  
Total Ankle Arthroplasty ◽  
Ankle Arthritis ◽  
Retrospective Case ◽  
Ankle Arthroplasty ◽  
Major Complications ◽  
End Stage ◽  
Complications Rate

Background: Total ankle arthroplasty is a viable option for the treatment of end stage ankle arthritis. The purpose of this study is to report on the mid-term results with a cemented total ankle prosthesis, the Inbone™ II implant over a 5 year period. Methods: A retrospective, single-center chart and radiographic review of all patients with end stage ankle arthritis treated with Inbone™ II TAR) as the primary index procedure from 12/1/2012 to 3/1/2017. Clinical data were evaluated at 3 month, 6 month, 1 year and subsequent intervals for the study period. Preoperative diagnosis, pertinent patient demographics adjunctive procedures, implant associated complications, subsequent surgeries, and revisions were recorded. Results: 121 total ankles met our inclusion criteria. Patients had an INBONE™ II TAR implant placed with bone cement with a minimum of a 12 months follow up. Average age was 62.88 (range, 32-87) years, average body mass index was 32.74 (range, 21.8-56.04) kg/m2 and average follow up was 28.51(range, 12-69) months. Using the COFAS complication classification there were 14 minor, 11 moderate, and 5 major complications. 6/121 (5.0%) revisions which included: polyethylene exchange, device explant/fusion, and antibiotic spacer in situ. No complications over the course of this study ended in amputation. Conclusion: Total Ankle Arthroplasty utilizing the cemented INBONE™ II yielded good midterm results with regards to minor, moderate, and major complications. Rate of revision 6/121 (5.0%) was within the reported range with only 5 patients converted to fusion during the study period resulting in a 95% survivability at mid-term follow up. Levels of Evidence: Level IV: Retrospective case series

scholarly journals Seven-Year Follow-Up of Peutz-Jeghers Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Hamid Reza Mozaffari ◽  
Fetemeh Rezaei ◽  
Roohollah Sharifi ◽  
S. Ghasem Mirbahari
Keyword(s):  
Female Patient ◽  
Colorectal Polyps ◽  
Rectal Polyp ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

One of the clinicopathological criteria for diagnosing Peutz-Jeghers syndrome (PJS) is mucocutaneous pigmentation. We present a 57-year-old Iranian female patient with diffuse pigmentation in buccal and labial mucosa. The first colonoscopy revealed one 0.5 cm rectal polyp. However surveillance colonoscopies over a 7-year polyp showed over 100 colorectal polyps.

scholarly journals Genetic Risk of Talon Cusp: Talon Cusp in Five Siblings

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Nuha Abdel-Rahman Elmubarak
Keyword(s):  
Family History ◽  
Rural Areas ◽  
Genetic Risk ◽  
Dental Treatment ◽  
Case Series ◽  
Anterior Tooth ◽  
Anterior Teeth ◽  
The University ◽  
Clinical Problems

Talon cusp is a rare dental anomaly that appears as a cusp-like projection on anterior teeth. Although numerous articles considering this anomaly have been published, this report has displayed a unique presentation of talon cusp. This case series is the first report in literature on which talon cusp has been presented in multiple siblings which highlights the genetic/familial component of the etiology. The report has also displayed unfamiliar morphological appearance (heart shape) of the talon cusp. Furthermore, talon cusp has shown an association with taurodontism in this report. Taurodontism has never been mentioned in the previous literature among the odontogenic variations that may associate talon cusp. A 25-year-old male has presented with talon cusps on the palatal surface of anterior teeth. Family history revealed four of his siblings had the same anomaly on anterior teeth. Talon cusps in the five cases cause clinical problems like occlusal interference, displacement and proclination of the anterior tooth, caries in the grooves delineating talon cusp, or pulp necrosis. Free dental treatment has been offered in the university clinic. However, they live in remote rural areas making it difficult to follow up with treatment.

scholarly journals Therapeutic Challenges for Elderly Patients with Primary Hyperparathyroidism

2019 ◽  
Vol 2019 ◽  
pp. 1-3 ◽  
Author(s):  
Kenneth Sluis ◽  
Hyon Kim ◽  
Yuling He ◽  
Beatrice Wong ◽  
Xiangbing Wang
Keyword(s):  
Primary Hyperparathyroidism ◽  
Chart Review ◽  
Treatment Options ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Long Term Stability ◽  
Feasible Option ◽  
One Year

Primary hyperparathyroidism (PHPT) predominantly affects older adults, and parathyroidectomy can achieve definitive cure in symptomatic PHPT and asymptomatic meeting surgical criteria. As the population continues to age, the treatment of PHPT in octogenarians and nonagenarians presents a clinical conundrum. This case series presents the management of eight patients 85 years of age and older diagnosed with PHPT. A retrospective chart review of patients diagnosed with primary hyperparathyroidism were identified in a single institution. Those patients 85 years of age and older who were followed up for over one year were included in this case series. The literature on treatment options for this age group was also reviewed. Eight cases of PHPT patients aged 88 ± 2.5 years old with a follow-up average of 5.6 ± 4.4 years were reported in our case series. Six PHPT patients were medically managed and two PHPT patients underwent parathyroid resection. Most of the medically managed PHPT patients except for one had long-term stability of disease for over five years. The treatment of PHPT diagnosed in patients over 85 years of age presents a clinical challenge for which there is no clear consensus guideline. Our case series supports that medical therapy is a feasible option for PHPT patients over 85 years old.

Early Outcomes and Complications of Synthetic Cartilage Implant for Treatment of Hallux Rigidus in the United States

2019 ◽  
Vol 40 (10) ◽  
pp. 1140-1148 ◽  
Author(s):  
Spenser J. Cassinelli ◽  
Stephanie Chen ◽  
Timothy P. Charlton ◽  
David B. Thordarson
Keyword(s):  
Patient Satisfaction ◽  
Case Series ◽  
Retrospective Chart Review ◽  
The United States ◽  
Reoperation Rate ◽  
Hallux Rigidus ◽  
Level Of Evidence ◽  
Physical Dysfunction ◽  
Magnetic Resonance Imaging Mri

Background: The aim of this study was to determine the early outcomes and complications following the implantation of a hydrogel synthetic cartilage implant (SCI, Cartiva) for the treatment of hallux rigidus by a single surgeon. Methods: A retrospective chart review was performed of consecutive patients who underwent treatment for hallux rigidus with an SCI between August 2016 and April 2018 by a single surgeon. Demographic information, radiographic assessment, and concomitant operative procedures performed were evaluated for all patients. Postoperatively, PROMIS physical function (PF) and pain interference (PI) scores, patient satisfaction, reoperation, conversion to arthrodesis, and need for further clinical treatment were collected. Sixty-four SCIs were implanted in 60 patients. Follow-up averaged 18.5 months (range 12-30 months). Results: 14% (9/64) of patients were very satisfied, 28% (18/64) satisfied, 20% (13/64) neutral, 11% (7/64) unsatisfied, and 27% (17/64) very unsatisfied with their outcome. In addition, 45% of patients underwent additional procedures at the time of SCI, and 23% had a history of surgery on the hallux before implantation. PROMIS PF scores averaged 42 and PROMIS PI scores averaged 60. Overall, 63% completed PROMIS PI, 66% completed PROMIS PF, and 100% completed a satisfaction survey. In addition, 30% (19/64) underwent magnetic resonance imaging (MRI) postoperatively due to pain. There was a 20% reoperation rate, which included an 8% rate of conversion to arthrodesis. Conclusion: Synthetic cartilage implantation yielded neutral patient satisfaction, mild pain, and physical dysfunction at early follow-up. We believe patient selection and counseling regarding early postoperative limitations are important before proceeding with SCI. Level of Evidence: Level IV, case series.

Handedness switching as a presenting sign for pediatric low-grade gliomas: An insight into brain plasticity from a short case series

2020 ◽  
pp. 1-6
Author(s):  
Yahya Ghazwani ◽  
Zoltan Patay ◽  
Zsila S. Sadighi ◽  
Jessica Sparrow ◽  
Santhosh Upadhyaya ◽  
...  
Keyword(s):  
Motor Function ◽  
Brain Plasticity ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Rehabilitation Services ◽  
Low Grade ◽  
Dominant Hand ◽  
Long Term Follow Up

PURPOSE: To describe clinical data, rehabilitation services, and outcomes of children with handedness switching as their presenting symptom before low-grade glioma (LGG) diagnosis. METHODS: A retrospective chart review was performed for five patients (four female and four white) with LGG and confirmed handedness switching before LGG diagnosis. RESULTS: All children were less than 8 years at diagnosis, and two patients were less than 3 years. All children were initially right-handed and experienced loss of motor function, ranging from weakness to paresis, in their dominant hand. The median time from switching handedness to diagnosis was 1 month (range: 0.75–60 months). Rehabilitation was offered for three patients, and motor function deficits in the initial dominant hand were resolved in two of the total cohort. At long-term follow-up, hand dominance returned to the initial hand in three patients. CONCLUSIONS: Handedness switching should be acknowledged as a potential sign of LGG in children, and early long-term rehabilitation services should be offered for these children.

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