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Two patients with Kabuki syndrome presenting with endocrine problems
1Department of Pediatrics, Hospital of Marmara University School of Medicine, Istanbul, Turkey. abereket@e-kolay.net
Journal of Pediatric Endocrinology & Metabolism : JPEM
|April 18, 2001
Summary
Kabuki syndrome, a rare genetic disorder, can manifest with diverse symptoms including hypoglycemia and developmental delay. Early recognition is key, especially when accompanied by characteristic facial features and endocrine issues.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Kabuki syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multisystem abnormalities.
- It presents with a wide spectrum of clinical manifestations, making diagnosis challenging.
Observation:
- Two pediatric cases are presented: a boy with mental retardation, seizures, and hypoglycemia; and a girl with developmental delay and premature thelarche.
- Both patients exhibited typical facial features and neurodevelopmental delay consistent with Kabuki syndrome.
Findings:
- The study highlights endocrine dysfunctions, such as hypoglycemia and premature thelarche, as potential indicators of Kabuki syndrome.
- Novel findings in these patients included congenital alopecia areata and hyperpigmented skin lesions, expanding the known clinical spectrum.
Implications:
- The findings suggest that Kabuki syndrome should be considered in the differential diagnosis of pediatric patients presenting with hypoglycemia or premature thelarche, especially when associated with developmental delay and characteristic facial features.
- This broadens the diagnostic criteria and emphasizes the importance of recognizing subtle or atypical presentations of Kabuki syndrome.