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Case series describes pediatric hypothalamic hamartoma characteristics and management in Indonesia, indicating diagnostic challenges.
Background and Aims Hypothalamic hamartoma (HH) is a rare, congenital, non-neoplastic malformation arising from the tuber cinereum, classically associated with central precocious puberty (CPP), gelastic seizures, and developmental delay. In low- and middle-income countries, limited access to neuroimaging and specialized services contributes to underdiagnosis, and data on pediatric HH in Indonesia are lacking. This study aimed to describe the clinical characteristics, diagnostic features, and management of pediatric HH in Indonesia. Methods We conducted a retrospective review of children (<18 years) diagnosed with HH who presented to a tertiary referral hospital in Jakarta, Indonesia, between January 2023 and February 2025. Clinical presentation, radiological findings, and treatment modalities were extracted from medical records. Results Four children were identified, three of whom were male. The mean age at symptom onset was 29.0 ± 15.2 months, with a mean age at diagnosis of 46.5 ± 13.8 months. All patients presented with central precocious puberty; two had gelastic seizures, and all exhibited developmental delay. Neuroimaging demonstrated pedunculated hypothalamic hamartomas in all cases, with a mean lesion size of 10.3 ± 4.4 mm. All patients received gonadotropin-releasing hormone (GnRH) agonist therapy. Surgical intervention was not performed due to technical and resource-related limitations. Following GnRH agonist treatment, the mean bone age–chronological age discrepancy improved from 6.58 years to 3.58 years. Conclusion This case series highlights the presence of pediatric hypothalamic hamartoma in Indonesia and underscores ongoing diagnostic and therapeutic challenges in resource-limited settings. While GnRH agonist therapy effectively controlled pubertal progression, access to surgical management remains limited. Larger studies with longer follow-up are needed to optimize diagnostic pathways and develop feasible multidisciplinary treatment strategies.
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Rahmartani et al. (2026) studied this question.
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