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[A case of hypothalamic hamartoma with gelastic seizures, precocious puberty, poly- and syndactyly]
H Katayama1, M Miyao, S Kobayashi
1Department of Pediatrics, Jichi Medical School, Tochigi.
Insights
A rare case of hypothalamic hamartoma in a 6-month-old boy presented with poly- and syndactyly, gelastic seizures, and precocious puberty. This association highlights a complex neurological and developmental presentation.
Area of Science:
- Pediatric Neurology
- Developmental Biology
- Medical Genetics
Background:
- Hypothalamic hamartomas are rare congenital tumors.
- Gelastic seizures and precocious puberty can be associated with hypothalamic hamartomas.
- Polydactyly and syndactyly are congenital limb malformations.
Observation:
- A 6-month-old boy presented with poly- and syndactyly at birth.
- He developed gelastic seizures and signs of precocious puberty by 5 months of age.
- Neurological examination revealed delayed psychomotor development and enlarged genitalia.
Findings:
- Gelastic seizures were frequent and refractory to anticonvulsants.
- EEG showed generalized high voltage slow waves during seizures.
- Brain imaging confirmed a hypothalamic hamartoma, with elevated LH and testosterone levels.
Implications:
- This case suggests a rare association between hypothalamic hamartoma and limb malformations.
- Early diagnosis and management are crucial for patients with gelastic seizures and precocious puberty.
- Further research is needed to understand the genetic and developmental pathways involved.
Abstract:
We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were normal. At 5 month of age, he visited our hospital because of a suspected seizure. On admission, physical and neurological examinations revealed increased size in penis and testes, and delayed psychomotor development. Gelastic seizures occurred up to 100 times a day, and were resistant to many anticonvulsants. Ictal EEG showed bursts of generalized high voltage slow waves. His serum LH and testosterone levels were elevated for his age. Brain CT and MRI demonstrated a hypothalamic mass lesion, which proved to be hamartoma by biopsy.