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Published on: January 16, 2019
Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
Samantha Saenz Hinojosa1, Carlos Reyes2, Vanessa I Romero1
1School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Insights
Diagnosing rare genetic conditions like CHARGE syndrome can be challenging in resource-limited areas. Genetic sequencing identified a novel mutation, aiding diagnosis after years of misdiagnosis.
Area of Science:
- Genetics
- Rare Diseases
- Medical Diagnostics
Background:
- Uncommon phenotypes in resource-limited settings lead to diagnostic delays and misdiagnoses.
- CHARGE syndrome, a congenital disorder affecting multiple organs, presents diagnostic challenges.
- Limited access to genetic specialists and testing exacerbates these issues in developing nations.
Observation:
- A 21-year-old male from Ecuador with hypogonadism, facial deformities, and stunted growth was initially misdiagnosed with Noonan syndrome.
- Diagnostic delay of eight years occurred due to limited genetic resources in Ecuador.
- The patient presented with symptoms consistent with CHARGE syndrome.
Findings:
- Genetic sequencing identified a novel mutation in the Chromodomain helicase DNA binding protein 7 (CHD7) gene.
- This genetic finding confirmed the diagnosis of CHARGE syndrome.
- The case underscores the importance of advanced genetic testing for rare conditions.
Implications:
- Accurate and timely diagnosis of rare genetic disorders is crucial for patient outcomes.
- Enhanced collaboration between clinicians and researchers can improve healthcare equity.
- Addressing resource limitations in genetics is vital for underserved populations.
Introduction:
In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condition affecting various body parts such as the heart, ears, eyes, and genitals, exemplifies this challenge.
Case Presentation:
We present the case of a 21-year-old male patient from Ecuador who exhibited hypogonadism, facial deformities, and stunted growth. Due to the scarcity of genetic specialists and limited access to genetic testing in Ecuador, the patient received a misdiagnosis of Noonan syndrome. However, a correct diagnosis of CHARGE syndrome was ultimately reached after eight years, facilitated by genetic sequencing that identified a novel mutation in the Chromodomain helicase DNA binding protein 7 gene.
Conclusion:
This case highlights the critical role of meticulously assessing patients' symptoms and emphasizes the necessity for enhanced collaboration among physicians and researchers. Such efforts are pivotal in advancing healthcare access and equity for individuals in developing nations.
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