Cowden syndrome

2020 ◽  
Vol 18 (6) ◽  
pp. 76-84
Author(s):  
D.A. Polunina ◽  
◽  
M.E. Bagaeva ◽  
I.F. Tin ◽  
E.V. Pavlovskaya ◽  
...  
Keyword(s):  
Case Report ◽  
Lipid Metabolism ◽  
Genetic Disease ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Cowden Syndrome ◽  
Insufficient Evidence ◽  
Dominant Inheritance

Cowden syndrome is a rare genetic disease with the autosomal dominant inheritance, characterised by a combination of macrocephaly with multiple hamartomas and impaired lipid metabolism. The article presents a clinical case report of this disease in a 8-year-old boy with two genetically confirmed mutations in the genes PTEN and SHDB responsible for the development of Cowden syndrome. At present, there is insufficient evidence about the influence of combined pathogenic mutations in both genes and, consequently, about the possible outcomes and clinical manifestations of the disease. Taking into account the rarity of this pathology, multisystem organ involvement and also the absence of characteristic clinical signs in childhood, a description of this clinical case might be of interest in order to raise the awareness for Cowden syndrome. Key words: Cowden syndrome, hamartomas, PTEN, SDH, succinate dehydrogenase, hypoglycaemia, dyslipidemia

scholarly journals Neuroleptic-Induced Brugada Syndrome - A Case Report

2018 ◽  
Vol 5 ◽  
Author(s):  
Fouad Laboudi ◽  
Ghizlane Slimani ◽  
Mohamed Essaid Gourani ◽  
Abderrazzak Ouanass
Keyword(s):  
Case Report ◽  
High Risk ◽  
Sudden Death ◽  
Ventricular Arrhythmia ◽  
Brugada Syndrome ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Dominant Inheritance ◽  
St Segment Elevation ◽  
St Segment

Brugada syndrome is a rare genetic disease, of autosomal dominant inheritance with low penetrance, manifested by ST segment elevation at right precordial V1, V2 and V3, and right branch block aspect. to the electrocardiogram. It exposes to a high risk of ventricular arrhythmia that can cause syncope and even sudden death, on a structurally healthy heart.We report here the case of a young patient of 25 years who has a syndrome of Brugada induced by a neuroleptic. To our knowledge, this is the first reported case of Brugada syndrome induced by a neuroleptic Morocco. Therapeutic management is based on Amiodarone and betablockers. Regular monitoring of the ECG should, however, be performed on patients taking psychotropic drugs and also on associations.

scholarly journals Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report

2017 ◽  
Vol 8 (2) ◽  
pp. 358-361
Author(s):  
Mario Motta ◽  
Mauro Geller ◽  
Cesar Motta
Keyword(s):  
Case Report ◽  
General Anesthesia ◽  
Female Patient ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Histopathological Analysis

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.

scholarly journals Multiple Cavernous Malformations: A Case Report

2020 ◽  
Vol 3 (1) ◽  
pp. 5-13
Author(s):  
Fernando Gutiérrez Rincón Oscar ◽  
◽  
Moreno García Santiago ◽  
José Hoyos Bedoya Maria ◽  
Juliana Builes Cerón Sarah ◽  
...  
Keyword(s):  
Case Report ◽  
Medical Management ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Cavernous Malformations ◽  
Arteries And Veins ◽  
Main Clinical Manifestation

Cavernous malformations are alterations in the conformation of arteries and veins that can be found both intracranial and intraspinal; however, the variables are very important for the diagnosis and treatment of patients. The main clinical manifestation is epileptic seizures in cases of bleeding, but in many cases they are asymptomatic in the course of life and are found as findings related to neuroimaging studies for other reasons. It is more common to find unique lesions, but in cases of multiple lesions it is likely to find an autosomal dominant hereditary factor, which makes the person more likely to convulse due to sporadic bleeding. Medical management focuses on the clinical presentation and management of epileptic seizures, while surgical management takes into account the size, location and bleeding. Below is a clinical case that represents one of the different clinical manifestations and the approach that was given in said patient.

scholarly journals Case report of von willebrand disease after tonsillotomy and adenotomy in a child

2021 ◽  
Vol 20 (1) ◽  
pp. 89-92
Author(s):  
S. S. Makhmudov ◽  
◽  
A. A. Ochilzoda ◽  
F. P. Dzhamolov ◽  
A. Z. Mutalibov ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Practice ◽  
Surgical Treatment ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Von Willebrand Disease ◽  
Rare Occurrence ◽  
Von Willebrand

The authors present a clinical case of von Willebrand disease detected after tonsillotomy and adenotomy in a child. The peculiarity of this observation lies in the rare occurrence of von Willebrand disease in clinical practice, as well as the manifestation of the clinical manifestations of this pathology against the background of surgical treatment in a child.

scholarly journals The extraosseal intrathoracic radiopaque bone cyst in West Highland White Terrier – a case report

2013 ◽  
Vol 82 (3) ◽  
pp. 249-252
Author(s):  
Valent Ledecký ◽  
Viera Revajová ◽  
Ľubomír Páleník ◽  
Mária Kuricová ◽  
Igor Capík ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Bone Cyst ◽  
Clinical Signs ◽  
Successful Outcome ◽  
Bone Cysts ◽  
First Case ◽  
Old West ◽  
Mass Formation ◽  
Severe Dyspnoea

The aim of this report was to present a clinical case and diagnostics of intrathoracic bone cyst as well as successful outcome of the surgical treatment in a male, 3-year-old West Highland White Terrier dog, weighing 6.9 kg. The dog was admitted in a very poor condition with clinical signs of severe dyspnoea that developed during about one month period of time before admission to our clinic. The dog underwent physical examination and further examinations including radiological examination which revealed a radiopaque mass formation in the cranial mediastinum. Ultrasonographic examination showed the presence of fluid; following thoracentesis revealed pseudochylous fluid. The bone cyst was surgically removed and more than 10 months after surgery the dog’s health was very good without any difficulties. Bone cysts in dogs are infrequent; this was the first case at our clinic and presented a successful treatment.

scholarly journals A rare case report of progressive symmetric erythrokeratoderma in five generations of an Indian family

2018 ◽  
Vol 4 (3) ◽  
pp. 444
Author(s):  
Anil Kumar Gupta ◽  
Kanishk Utkarsh Kaushik ◽  
Sushantika . ◽  
Shivangi Sachan
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Indian Family ◽  
Rare Case Report ◽  
Successive Generations ◽  
Rare Group

<p>Erythrokeratoderma is a rare group of disorders of autosomal dominant inheritance characterised by localised erythema and hyperkeratosis. Within a broad spectrum of phenotypes atleast two are delineated: a) Erythrokeratoderma variabilis and b) Progressive symmetric erythrokeratoderma. Here we are reporting a case of progressive symmetric erythrokeratoderma in an Indian family where five successive generations were involved.</p>

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene

2021 ◽  
Vol 11 (3) ◽  
pp. 64-68
Author(s):  
E. L. Dadali ◽  
T. V. Markova ◽  
O. P. Ryzhkova
Keyword(s):  
Autosomal Dominant ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Protein Product ◽  
Facial Features ◽  
Heterozygous State ◽  
Genetic Characteristics ◽  
The Core ◽  
Arnold Chiari Malformation ◽  
Russian Patient

Aymé–Gripp syndrome is a rare autosomal dominant syndrome caused by mutations in the MAF gene and is characterized by a pronounced phenotypic polymorphism. The core of clinical signs consists of congenital cataracts, sensorineural hearing loss, specific dysmorphic facial features and intellectual disabilities. With varying frequency, patients have: radioulnar synostosis, Arnold–Chiari malformation, aseptic pericarditis, dental anomaly and osteoarthritis. The article presents the clinical and genetic characteristics of the first Russian patient with Aymé–Gripp syndrome caused by a newly identified mutation s.173C>A (p.Thr58Asn NM_005360.4) in a heterozygous state in the MAF gene. The influence of the lo  calization and type of amino acid substitutions in the protein product of the gene on the severity and specificity of the clinical manifestations of the syndrome is discussed. 

scholarly journals Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

Revista CEFAC ◽  
2020 ◽  
Vol 22 (4) ◽  
Author(s):  
Geciane Xavier Torres ◽  
Emerson de Santana Santos ◽  
Carla Patrícia Hernandez Alves Ribeiro César ◽  
Roxane de Alencar Irineu ◽  
Isabel Ribeiro Rocha Dias ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disease ◽  
Noonan Syndrome ◽  
Speech Therapy ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
The Face ◽  
Facial Type ◽  
Class Iv

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

Sign in / Sign up

Export Citation Format

Share Document