[CHARGE association: report of a case with literature review]
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Published on: September 20, 2018
1Department of Pediatrics, Taipei Municipal Yang-Ming Hospital, Taiwan, R.O.C.
Insights
CHARGE association, a rare congenital disorder, presents with multiple defects. This report details a 15-year-old female case, highlighting key symptoms and the need for early diagnosis.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Ophthalmology
Background:
- The CHARGE association is a complex genetic disorder characterized by multiple congenital anomalies, first described in 1981.
- The exact etiology of CHARGE association remains unclear, impacting various organ systems.
- It is defined by a constellation of defects: Coloboma, Heart defects, Atresia choanae, Retardation of growth/development, Genital anomalies, and Ear anomalies.
Observation:
- This report presents a case of CHARGE association in a 15-year-old female.
- The patient exhibited unilateral ptosis, iris, choroid, and retinal coloboma, patent ductus arteriosus, growth and mental retardation, unilateral ear deformity, and hearing loss.
- This case adds to the 124 reported instances of CHARGE association in the literature.
Findings:
- The study reviews the frequency of clinical symptoms and signs associated with CHARGE association.
- It identifies common causes of misdiagnosis in patients with this condition.
- The reported case aligns with the typical phenotypic spectrum of CHARGE association.
Implications:
- Early ophthalmology and ENT consultations are crucial for diagnosing CHARGE association, especially with co-occurring cardiac defects.
- Prompt diagnosis and intervention are vital for managing this rare condition and improving patient outcomes.
- Understanding the diagnostic challenges and symptom frequency aids in timely identification and management strategies.
Abstract:
The CHARGE association was described as a cluster of multiple congenital defects by Pagon et al in 1981. The underlining cause of this association is not yet clear. These defects include coloboma of the eye tissues (C), heart disease (H), atresia choanae (A), retarded growth and development and/or CNS anomalies (R), genital anomalies (G), ear anomalies and/or hearing loss (E). Here we report a case of CHARGE association in a 15-year-old female patient. She presented with unilateral ptosis and coloboma of the iris, choroid and retina, patent ductus arteriosus, growth and mental retardation, unilateral ear deformity and a hearing loss. A total of 124 cases have been reported up to now in the literature. We also discuss the frequency of the respective clinical symptoms and signs, and the leading causes of misdiagnosis. We emphasize the importance of ophthalmology and ENT consultations whenever a patient is noted to have multiple congenital anomalies, especially when a cardiac defect is present. Early diagnosis and treatment are essential for this rare association.
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