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[Two cases of Costello syndrome]
Tatsuo Masuyama1, Muneaki Matsuo, Tateo Kuno
1Department of Pediatrics, Saga Seishigakuen Handicapped Children's Hospital, Saga. ssgmasu@po.saganet.ne.jp
No to Hattatsu = Brain and Development
|February 28, 2003
Summary
This study details two Costello syndrome cases, highlighting key features like poor growth, developmental delay, and characteristic facial changes. Nasal papilloma and atrial fibrillation were prominent in both patients.
Area of Science:
- Genetics and Rare Diseases
- Pediatric Cardiology
- Dermatology
Background:
- Costello syndrome is a rare genetic disorder with diverse clinical manifestations.
- Key features often include developmental delay, distinctive facial features, and cardiac anomalies.
- Ocular, dermatological, and skeletal issues are also frequently observed.
Observation:
- Two unrelated pediatric cases of Costello syndrome were analyzed.
- Common features included poor postnatal growth, mild intellectual disability, feeding difficulties, characteristic facial features, loose skin, hypotonia, and cardiac anomalies.
Findings:
- Nasal papilloma and acanthosis nigricans were identified as highly characteristic features.
- Both patients exhibited atrial fibrillation from infancy to early childhood.
- Varied musculoskeletal presentations were noted, including lower extremity hypertonia with pes equinovarus in one case and hypotonia with pes planovalgus in the other.
Implications:
- Highlights the diagnostic importance of specific dermatological findings like nasal papilloma and acanthosis nigricans in Costello syndrome.
- Emphasizes the early cardiac involvement, particularly atrial fibrillation, requiring vigilant monitoring in affected children.
- Underscores the phenotypic variability within Costello syndrome, affecting musculoskeletal development and requiring tailored interventions.