Benign Hereditary Chorea a Case Report

1988 ◽  
Vol 152 (1) ◽  
pp. 131-134 ◽  
Author(s):  
S. J. Loosmore ◽  
K. Wood
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Organic Substrate ◽  
Huntington's Chorea ◽  
Autosomal Dominant Disorder ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea ◽  
Characteristic Features

A case of benign hereditary chorea is reported, along with a brief review of the condition. It is a rare and little known autosomal dominant disorder which may be confused with Huntington's chorea, which has a more serious prognosis. The case described shows some characteristic features. It is difficult to decide how many of the patient's psychiatric difficulties are a reaction to his disabilities and how many have an organic substrate.

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals Piebaldism in a 3-month-old infant: Case report

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Male Infant ◽  
Congenital Absence ◽  
Skin Involvement ◽  
Left Forearm ◽  
Autosomal Dominant Disorder ◽  
And Migration ◽  
Infant Case

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

Cherubism in a 12-year old Child; A Rare Case Report

2020 ◽  
Vol 12 (2) ◽  
pp. 39-42
Author(s):  
Dr. Mallayya C. Hiremath ◽  
Dr. SK. Srinath ◽  
Dr. Bineesh Balan ◽  
Dr. Sushma H S
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Growth Period ◽  
Individual Case ◽  
Radiographic Examination ◽  
Facial Deformity ◽  
Autosomal Dominant Disorder ◽  
Radiological Features ◽  
Rare Case Report

Cherubism is a non-neoplastic, fibro-osseous, self-limiting, autosomal dominant disorder of the jaws. It is also called as familial fibrous dysplasia and familial multi-locular cystic lesion of the jaws. Its typical dento-facial deformities are caused by mutations in the SH3BP2 gene. The lesion regresses during puberty and the disease stabilizes after the growth period. But it leaves some facial deformity along with disturbances in occlusion. Cherubism may occur as an individual case or in multiple members of the same family, oftenly in multiple generations. Radiographic examination of the lesion shows bilateral multi-locular radiolucent areas.The aim of this case report is to present a case of 12-years old cherubic child, with its clinical and radiological features and discussion about the clinical outcome.This patient was diagnosed with Cherubism and being followed up periodically.

scholarly journals Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Ashutosh Agrawal ◽  
Aditi Murari ◽  
Sunil Vutukuri ◽  
Arun Singh
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Health Professionals ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Complete Penetrance ◽  
Goltz Syndrome ◽  
Minor Criteria ◽  
Prompt Diagnosis

Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity.Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient.Discussion. Gorlin-Goltz syndrome is about multisystem process comprising the triad of basal cell nevi, jaw keratocysts, and skeletal anomalies. A spectrum of other neurological, ophthalmic, endocrine and genital manifestations is known to be variably associated with this triad. Diagnosis of the syndrome is based on major and minor criteria.Conclusion. This paper emphasizes the importance of oral and maxillofacial health professionals in the early diagnosis of nevoid basal cell carcinoma syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient.

scholarly journals Keratolytic Winter Erythema: a misdiagnosed palmoplantar dermatosis

2021 ◽  
Vol 7 (3) ◽  
pp. 469
Author(s):  
Vidya Kharkar ◽  
Anmol Bhargava
Keyword(s):  
Case Report ◽  
South African ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Unknown Etiology ◽  
Autosomal Dominant Disorder ◽  
European Descent ◽  
African Families ◽  
Relevant Family History ◽  
Variable Penetrance

<p class="abstract">Keratolytic Winter Erythema, also known as ‘Erythrokeratolysis hiemalis’ or ‘Oudtshoorn disease’ is a rare genetic disorder of keratinization of an unknown etiology characterized by cyclical erythema and intermittent skin peeling usually over palms and soles, particularly during winter.It was originally described in South African families of European descent originating from the Oudtshoorn district of Cape Provence, and has been since identified in several other countries. It is an autosomal dominant disorder with variable penetrance. The condition <a name="_Hlk67093214"></a>is often misdiagnosed as Keratolysis exfoliativa, but presence of a relevant family history, winter exacerbation and preceding hyperhidrosis with interdigital involvement differentiate it from the former. We present a case report with clinical histopathological data of an 18-year-old female with attributes of erthrokeratolysis hiemalis. This case is being reported due to its rarity.</p>

scholarly journals FAMILIAL HETEROZYGOUS HYPERCHOLESTEROLEMIA: A CASE REPORT

2019 ◽  
Vol 72 (5) ◽  
pp. 942-945
Author(s):  
Vyacheslav М. Zhdan ◽  
Yevdokiia М. Kitura ◽  
Maryna Yu. Babanina ◽  
Oksana Ye. Kitura ◽  
Maksym V. Tkachenko
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Genetic Disorders ◽  
Autosomal Dominant Disorder ◽  
Gene Encoding ◽  
Lipid Disorders ◽  
Apoprotein B ◽  
Hereditary Disorders ◽  
And Function ◽  
Disorders Of Lipid Metabolism

Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patients with FH are predisposed to premature development of atherosclerosis and clinically manifested forms of cardiovascular diseases, in particular coronary heart disease (CHD). The aim of our article is informing the general practitioners about the diagnosis and management of patients with familial heterozygous hypercholesterolemia. Materials and methods: The data of domestic and foreign literature were analyzed. The case report of familial heterozygous hypercholesterolemia (FHH) was present in this article. Diagnostic criteria, current approaches to the management of patients with hereditary disorders of lipid metabolism are considered. Conclusions: Familial heterozygous hypercholesterolemia is one of the most common genetic disorders, but this pathology is not well-known to practitioners and is often underdiagnosed. Early diagnosis and aggressive contemporary hypolipidemic therapy is crucial for patients with signs of hereditary lipid disorders.

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