Generalized Dentin Dysplasia in a Four-Year-old dog

2021 ◽  
pp. 089875642110463
Author(s):  
Jason P. Hutt ◽  
Mary Krakowski Volker ◽  
Jennifer B. Alterman ◽  
Jason W. Soukup ◽  
Cynthia M. Bell
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Differential Diagnoses ◽  
Genetic Abnormality ◽  
Tooth Discoloration ◽  
Dental Abnormalities ◽  
Clinical Type

Dentin dysplasia is an autosomal-dominant genetic abnormality that occurs in humans and results in diffuse radiographic dental abnormalities and variable tooth discoloration due to an underlying defect in secondary dentinogenesis. This case report presents distinctive radiographic and histopathologic dental abnormalities in a dog that are consistent with generalized dentin dysplasia. These findings are similar to but not completely analogous to any specific clinical type of dentin dysplasia in humans. Grossly, the majority of the teeth in this case were discolored and most were determined to be vital. Dentin dysplasia should be included in the list of differential diagnoses of discolored teeth and notably this form of discoloration does not necessarily indicate loss of vitality.

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.

Voltage-gated potassium channel limbic encephalitis presenting as functional cognitive impairment

2020 ◽  
Vol 13 (12) ◽  
pp. e233179
Author(s):  
Eric Garrels ◽  
Fawziya Huq ◽  
Gavin McKay
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Potassium Channel ◽  
Limbic Encephalitis ◽  
Psychiatric Symptoms ◽  
Differential Diagnoses ◽  
Visual Hallucinations ◽  
Voltage Gated ◽  
History Of ◽  
Impaired Cognition

Limbic encephalitis is often reported to present as seizures and impaired cognition with little focus on psychiatric presentations. In this case report, we present a 49-year-old man who initially presented to the Psychiatric Liaison Service with a several month history of confusion with the additional emergence of visual hallucinations and delusions. Due to the inconsistent nature of the symptoms in the context of a major financial stressor, a provisional functional cognitive impairment diagnosis was made. Investigations later revealed a positive titre of voltage-gated potassium channel (VGKC) antibodies, subtype leucine-rich glioma inactivated 1 accounting for his symptoms which dramatically resolved with steroids and immunoglobulins. This case highlighted the need for maintaining broad differential diagnoses in a patient presenting with unusual psychiatric symptoms.

scholarly journals Cholesterol Granuloma of the Maxillary Sinus—A Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
pp. 215265672098478
Author(s):  
Abdulrahman Alghulikah ◽  
Norah Musallam ◽  
Ibrahim Sumaily ◽  
Amany Fathaddin ◽  
Surayie Aldossary
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Maxillary Sinus ◽  
Review Article ◽  
Unusual Presentation ◽  
Differential Diagnoses ◽  
Anatomical Site ◽  
Cholesterol Granuloma ◽  
Comprehensive Literature Review

Cholesterol Granulomas of the Maxillary Sinus, considered an unusual presentation at this anatomical site. Over last 2 decades, only few cases are reported in the literature (English) and no available comprehensive reviews or studies on this entity. Herein in this article we present a comprehensive literature review of the available reports of 16 cases along with reporting a new case which we managed, aided with its histopathological pictures. This review article can be a reference for practitioners in the field of otorhinolaryngology who may encounter these cases. Also, it attracts the attention to consider this pathology among the differential diagnoses of nasal masses. Moreover, including a described pathological imaging may help young pathologist to identify this pathology.

scholarly journals Gorham Stout disease: a case report from Syria

2021 ◽  
Vol 2021 (1) ◽  
Author(s):  
Asil Esper ◽  
Sami Alhoulaiby ◽  
Areege Emran ◽  
Safwan Youssef ◽  
Zuheir Alshehabi
Keyword(s):  
Case Report ◽  
Femoral Head ◽  
Bone Formation ◽  
Clinical Picture ◽  
Bone Matrix ◽  
Differential Diagnoses ◽  
Rare Entity ◽  
Relative Improvement ◽  
Cellular Atypia ◽  
Pathologic Fractures

Abstract Gorham-Stout disease (GSD) is a rare entity that destroys the bone matrix resulting mainly in osteolysis, pain and pathologic fractures among a broader clinical picture. We report a case of a 60-year-old female with a sudden discovery of pathologic fractures in the pelvis and the absence of the left femoral head. On biopsy, no cellular atypia was found, instead disturbed bone formation with prominent vascularity with scattered foci of necrosis & osteolysis, which lead to the diagnosis of GSD. Possible differential diagnoses were discussed and excluded. The patient was put on Bisphosphonate that led to a relative improvement in the symptoms. This disease needs a more thorough investigation to identify the key cause, what is beyond the scope of this report.

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.

Iliac Pseudoaneurysm, Only a Manifestation With More Causes: A Case Report

2021 ◽  
pp. 152660282110250
Author(s):  
Barbara Infante ◽  
Adelaide Di Lorenzo ◽  
Dario Troise ◽  
Angela M. R. Ferrante ◽  
Maurizio Ruggieri ◽  
...  
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Kidney Disease ◽  
Surgical Procedures ◽  
Arterial Wall ◽  
Autosomal Dominant ◽  
Vascular Complication ◽  
Polycystic Kidney ◽  
Vessel Lumen ◽  
Autosomal Dominant Polycystic Kidney

Pseudoaneurysm is due to a disruption in arterial wall continuity. It forms a sac that communicates with the vessel lumen and is surrounded by the compressed, surrounding tissues and not by the wall of the artery from which the lesion arises. Many causes can predispose to the formation of a pseudoaneurysm such as trauma, surgical procedures, anticoagulation. In our patient another important risk factor for the formation of a pseudoaneurysm is ADPKD (autosomal dominant polycystic kidney disease) that can cause vascular complication. The mechanisms leading to the genesis of the pseudoaneurysms in our patient are unknown, but the clinicians should bear in mind when evaluating this type of patients that ADPKD may have a various range of systemic cardiovascular manifestation.

scholarly journals Associated dental anomalies: case report

2005 ◽  
Vol 13 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Daniela Gamba Garib ◽  
Nildiceli Leite Melo Zanella ◽  
Sheldon Peck
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Genetic Control ◽  
Treatment Planning ◽  
Interesting Case ◽  
Clinical Implications ◽  
Dental Anomalies ◽  
Dental Abnormalities ◽  
Developmental Disturbances ◽  
Shared Genetic

Certain human dental anomalies frequently occur together, supporting the accumulated evidence of the shared genetic control of dental developmental disturbances. The present study reports a rare and interesting case of a 12-year-old girl with an association of multiple dental abnormalities, including agenesis, tooth malposition and delayed development. The etiology and treatment planning are discussed with reference to the literature. The clinical implications of genetically controlled patterns of dental anomalies are important in the establishment of early diagnosis and appropriate orthodontic intervention.

Laser therapy in a soft-shelled turtle ( Pelodiscus sinensis ) for the treatment of skin and shell ulceration

2013 ◽  
Vol 41 (04) ◽  
pp. 261-266 ◽  
Author(s):  
W. Heuser ◽  
M. Lierz ◽  
S. Kraut ◽  
D. Fischer
Keyword(s):  
Case Report ◽  
Laser Therapy ◽  
Diagnostic Procedures ◽  
Differential Diagnoses ◽  
Pelodiscus Sinensis ◽  
Central Aspect ◽  
Underlying Causes

SummarySkin and shell diseases in aquatic turtles are often associated with several underlying causes. The presented case report describes aetiology including differential diagnoses, diagnostic procedures and therapy of a soft-shelled turtle (Pelodiscus sinensis) suffering from a septicaemic ulcerative dermatitis. Central aspect hereby is the positive curing effect of laser therapy on skin and shell lesions.

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