Cystic Fibrosis in a Female Infant with Cardiac, Ocular, and Musculoskeletal Anomalies
Azhar Farooqui1, Susan Gamal Eldin2, Muna Dawood Ali2
1College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
Case Reports in Pediatrics
|December 23, 2015
Insights
Cystic fibrosis (CF), a common genetic disease, can rarely occur with other congenital abnormalities. This case report details a female infant diagnosed with CF and multiple co-occurring cardiac, ocular, and musculoskeletal conditions.
Area of Science:
- Pediatrics
- Medical Genetics
- Rare Diseases
Background:
- Cystic fibrosis (CF) is the most prevalent inherited disorder in Western populations.
- The co-occurrence of CF with other congenital abnormalities is infrequently documented.
- Understanding these rare presentations is crucial for comprehensive patient care.
Purpose of the Study:
- To report a rare case of cystic fibrosis in an infant with multiple congenital anomalies.
- To highlight the diagnostic and management challenges associated with rare disease combinations.
- To contribute to the limited literature on concomitant CF and congenital abnormalities.
Main Methods:
- Case presentation of a female infant diagnosed with cystic fibrosis.
- Detailed clinical examination and diagnostic workup for congenital abnormalities.
- Review of existing literature on cystic fibrosis and associated anomalies.
Main Results:
- The infant presented with confirmed cystic fibrosis.
- Cardiac, ocular, and musculoskeletal abnormalities were identified alongside CF.
- The case underscores the variability and complexity of CF presentations.
Conclusions:
- Cystic fibrosis can present with a spectrum of congenital abnormalities.
- Early recognition and multidisciplinary management are essential for affected infants.
- Further research is needed to elucidate the mechanisms behind these rare co-occurrences.
Abstract:
Cystic fibrosis (CF) remains the most common hereditary disease in the western population. Its concomitant presence with other congenital abnormalities is a rare phenomenon with very little documentation. In this case report we describe a case of cystic fibrosis in a female infant with cardiac, ocular, and musculoskeletal abnormalities. A brief literature review is also provided.
More Related Videos
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
1.0K
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.0K
01:24Cystic Fibrosis: Management
620
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
620
01:43Sex-linked Disorders
111.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
111.0K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
697
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
697
01:19X-linked Traits
59.5K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.5K
01:23Rheumatic Heart Disease I: Introduction
849
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
849