scholarly journals Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

2021 ◽  
pp. 14-19
Author(s):  
David Pomarino ◽  
Anneke Thren ◽  
Johanna R. Thren ◽  
Kevin Rostasy ◽  
Anna A. Emelina
Keyword(s):  
Clinical Case ◽  
Heterozygous State ◽  
Case Description ◽  
Gait Disorder ◽  
Speech Delay ◽  
Pathogenic Variants ◽  
Genetic Anomaly ◽  
Hennekam Syndrome ◽  
Toe Walking ◽  
Crebbp Gene

Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

Features of redox homeostasis in patients with liver cirrhosis (literature review and clinical case description)

2020 ◽  
Vol 26 (1) ◽  
pp. 70-86
Author(s):  
M.O. Abrahamovych ◽  
◽  
O.O. Abrahamovych ◽  
O.P. Fayura ◽  
L.R. Fayura ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Literature Review ◽  
Clinical Case ◽  
Redox Homeostasis ◽  
Case Description

scholarly journals Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 968
Author(s):  
Julien Van Gils ◽  
Frederique Magdinier ◽  
Patricia Fergelot ◽  
Didier Lacombe
Keyword(s):  
Chromatin Remodeling ◽  
Developmental Disorder ◽  
Facial Dysmorphism ◽  
Diagnostic Efficiency ◽  
Mendelian Disorders ◽  
Pathogenic Variants ◽  
Epigenetic Machinery ◽  
Lysine Acetyltransferase ◽  
Definition Of ◽  
Crebbp Gene

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To date, 500 pathogenic variants have been reported for the CREBBP gene and 118 for EP300. These two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. Because of the clinical heterogeneity of this syndrome ranging from the typical clinical diagnosis to features overlapping with other Mendelian disorders of the epigenetic machinery, phenotype/genotype correlations remain difficult to establish. In this context, the deciphering of the patho-physiological process underlying these diseases and the definition of a specific episignature will likely improve the diagnostic efficiency but also open novel therapeutic perspectives. This review summarizes the current clinical and molecular knowledge and highlights the epigenetic regulation of RSTS as a model of chromatinopathy.

scholarly journals LUMBOSACRAL PLEXOPATHY: CLINICAL CASE DESCRIPTION

2018 ◽  
Vol 11 (5) ◽  
pp. 143-148
Author(s):  
ROMAN S. CHIZH ◽  
◽  
ALBINA R . KHAKIMOVA ◽  
Keyword(s):  
Clinical Case ◽  
Case Description ◽  
Lumbosacral Plexopathy

Serial Casting of the Ankle and Knee in a Child With Vascular Anomaly of the Calf Musculature: A Case Report

2019 ◽  
Author(s):  
Colleen Peyton
Keyword(s):  
Lower Extremity ◽  
Range Of Motion ◽  
Vascular Anomaly ◽  
The Novel ◽  
Case Description ◽  
Limited Evidence ◽  
Posterior Compartment ◽  
Serial Casting ◽  
Toe Walking ◽  
Gait Impairments

Abstract Background and Purpose Contracture and toe-walking in children due to vascular anomaly of the calf musculature is rarely described and there is limited evidence regarding treatment. The purpose of this case is to describe the novel use of serial casting, combining the knee and ankle, to reduce contracture in a child with hemangioma of the calf. Case Description An 11-year-old girl received 12 casts of the ankle and knee, followed by custom orthotics, to address chronic contracture and gait impairments caused by a vascular anomaly in the posterior compartment of the lower extremity. Outcomes After casting, the patient had fully restored knee range of motion and improved ankle range of motion by 45 degrees. She received custom orthotics and maintained her range of motion four months after casting. Discussion Serial casting of the knee and ankle may be a useful alternative to surgical lengthenings in patients with chronic contractures caused by vascular anomalies of the lower extremity.

Professional Background and Themes Used in Clinical Case Description

1962 ◽  
Vol 15 (1) ◽  
pp. 53-61 ◽  
Author(s):  
Erika Chance ◽  
Jack Arnold ◽  
Sybil Tyrrell
Keyword(s):  
Clinical Case ◽  
Case Description ◽  
Professional Background

Leiomyoma of the Deferens: A Curious and Extremely Rare Disease

2017 ◽  
Vol 84 (3) ◽  
pp. 206-207
Author(s):  
Aldo F. De Rose ◽  
Guglielmo Mantica ◽  
Nataniele Piol ◽  
Carlo Toncini ◽  
Bruno Spina ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Rare Disease ◽  
Clinical Case ◽  
Vas Deferens ◽  
Benign Tumors ◽  
Case Description ◽  
Unique Case ◽  
Unusual Event ◽  
Fourth Case ◽  
The Right

Introduction Leiomyomas are rare benign tumors that can occur in the male urinary tract. We present a unique case of leiomyoma of the vas deferens. Case Description We present the clinical case of a 69-year-old patient with a suspected bulk close to the right epididymis, which turned out to be a leiomyoma of the vas deferens. To our knowledge, it is the fourth case in literature. Conclusions A proper identification and the knowledge of this pathology, even if it is a very unusual event, is necessary to avoid a surgical over treatment and preserve the testicle, by removing only the tumor.

scholarly journals Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 967
Author(s):  
Mohamed H. Al-Hamed ◽  
Nada Alsahan ◽  
Maha Tulbah ◽  
Wesam Kurdi ◽  
Wafa’a I. Ali ◽  
...  
Keyword(s):  
Developmental Disorder ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Speech Delay ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Antenatal Sonography ◽  
First Time

Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. Methods and Results: In a prenatal setting, where fetal abnormalities were detected using antenatal sonography, we used trio-exome sequencing (trio-ES) in conjunction with chromosomal microarray analysis (CMA) to identify two novel homozygous loss of function variants in the TMEM94 gene (c.606dupG and c.2729-2A>G) in two unrelated Saudi Arabian families. Conclusions: This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period.

scholarly journals Risk Factors of Ischemic Stroke in Children with Head and Neck Tumors: A Clinical Case Description with a Literature Review

2021 ◽  
Vol 7 (3) ◽  
pp. 163
Author(s):  
Anastasia D. Rodina ◽  
Vladimir Sh. Vanesyan ◽  
Tatiana V. Gorbunova ◽  
Natalia V. Ivanova ◽  
Vladimir G. Polyakov
Keyword(s):  
Risk Factors ◽  
Ischemic Stroke ◽  
Literature Review ◽  
Head And Neck ◽  
Clinical Case ◽  
Head And Neck Tumors ◽  
Case Description ◽  
Neck Tumors
Sign in / Sign up

Export Citation Format

Share Document