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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
Insights
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.
Abstract:
A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.