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Case Report: Long-Term Treatment and Follow-Up of Kleefstra Syndrome-2
1Child Healthcare Department, Children's Hospital of Nanjing Medical University, Nanjing, China.
Insights
Mutations in the KMT2C gene cause Kleefstra syndrome-2 (KLEFS2). Early interventions for feeding difficulty and developmental delay show promise, but ADHD management requires further study.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Mutations in the KMT2C gene are identified as the cause of Kleefstra syndrome-2 (KLEFS2).
- KLEFS2 is a rare genetic disorder with significant clinical manifestations.
Observation:
- A 10-year follow-up study was conducted on a child diagnosed with KLEFS2.
- The patient exhibited feeding difficulties and developmental delays in early childhood.
- Attention deficit hyperactivity disorder (ADHD) emerged in preschool and school-aged years.
Findings:
- Nutritional support and family rehabilitation were employed to manage feeding difficulties and developmental delays.
- Behavioral and pharmaceutical interventions were utilized for managing ADHD.
- While nutritional support and pharmaceutical interventions did not fully resolve malnutrition or ADHD, they were effective in counteracting developmental delays.
Implications:
- This case highlights the complex clinical presentation of KLEFS2, including feeding issues, developmental delays, and ADHD.
- Early intervention strategies are crucial for managing symptoms and improving outcomes in children with KLEFS2.
- Further research is needed to optimize therapeutic approaches for KLEFS2, particularly for managing ADHD.
Background:
Mutations in the KMT2C gene can cause Kleefstra syndrome-2 (KLEFS2).
Case:
In this study, we analyzed the clinical, genetic testing, and 10-year follow-up data of a child with KLEFS2 treated at the Child Healthcare Department, Children's Hospital of Nanjing Medical University, Nanjing. The case of KLEFS2 presented feeding difficulty and developmental delay, both intervened by nutritional support and family rehabilitation. Obvious attention deficit hyperactivity disorder (ADHD) occurred in preschool and school-age children and was managed by behavioral and pharmaceutical interventions.
Conclusion:
Features of KLEFS2 include feeding difficulty and developmental delays in an early age, as well as ADHD in preschool and school age. Satisfactory outcomes are not achieved in early nutritional support for correcting malnutrition and pharmaceutical intervention for relieving ADHD, but both measures can counter developmental delay.