scholarly journals SIADH as the initial manifestation of acute intermittent porphyria: A case report

2021 ◽  
pp. 494-496
Author(s):  
Tony K S ◽  
Rakhee Joshi ◽  
Pradnya Chaudhari ◽  
Reshma Abraham ◽  
Nachiket Joshi ◽  
...  
Keyword(s):  
Case Report ◽  
Autonomic Dysfunction ◽  
Autosomal Dominant ◽  
Acute Intermittent Porphyria ◽  
Young Female ◽  
Severe Form ◽  
Severe Hyponatremia ◽  
Initial Manifestation ◽  
Inappropriate Secretion ◽  
Purple Urine

Acute intermittent porphyria (AIP) is a rare autosomal dominant and the most severe form of the inherited hepatic porphyrias, affecting mainly young women. We present the case of an 18-year-old female who presented with severe abdominal pain, purple urine, autonomic dysfunction, and severe hyponatremia, seizures on further evaluation came out to be a case of AIP. This case report is a reminder to keep AIP among the differentials in young female patients with a classic constellation of abdominal urine discoloration syndrome of inappropriate secretion of antidiuretic hormone and autonomic dysfunction.

Cardiac Tamponade As the Initial Manifestation of Metastatic Adenocarcinoma from the Colon: A Case Report

2007 ◽  
Vol 10 (4) ◽  
pp. E329-E330 ◽  
Author(s):  
Jia-Lin Chen ◽  
Tsai-Wang Huang ◽  
Po-Shun Hsu ◽  
MD Chao-Yang, ◽  
Chien-Sung Tsai
Keyword(s):  
Case Report ◽  
Cardiac Tamponade ◽  
Metastatic Adenocarcinoma ◽  
Initial Manifestation

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

Replacement of Congenitally Missing Bilateral Maxillary Canines with Dental Implants: A Rare Case Report and Mini Review

2019 ◽  
Vol 13 (1) ◽  
pp. 371-376
Author(s):  
Abduljabbar Mohammed Alsameai ◽  
Basema Abdullah Khabaz ◽  
Mohammed Abdo Alraawi ◽  
Mohammed M Al Moaleem
Keyword(s):  
Case Report ◽  
Treatment Plan ◽  
Young Female ◽  
Normal Function ◽  
Short Term Result ◽  
Osseointegrated Implants ◽  
All Ceramic ◽  
Rare Case Report ◽  
Ceramic Crowns ◽  
Congenitally Missing

Introduction: Maxillary canines play strategic roles in maintaining the normal function and visibility of teeth. However, rare cases of bilateral permanent congenitally missing maxillary canines were occurring. Replacing these missing canines with dental implant prostheses is an optimal treatment plan for aesthetics and functions. Case Report: In this case report, we described the replacement of bilateral maxillary canines with osseointegrated implants to support all-ceramic prostheses for a young female patient. This treatment avoids the conventional preparation of adjacent teeth as a part of prosthetic reconstructions. In addition to that, all-ceramic crowns are biocompatible with oral cavity structures. Conclusion: The stable short-term result has been achieved with the replacement of the bilateral congenitally missed canines with an implant and cemented all-ceramic crowns, with 3-years cumulative success rate.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Sign in / Sign up

Export Citation Format

Share Document