Ram. Minns et al., HYPOTHALAMIC HAMARTOMA WITH SKELETAL MALFORMATIONS, GELASTIC EPILEPSYAND PRECOCIOUS PUBERTY, Developmental Medicine and Child Neurology, 36(2), 1994, pp. 173-176
A child is described who has skeletal malformations, gelastic epilepsy
, precocious puberty and a hypothalamic hamartoma. The skeletal abnorm
alities were detected at birth, she developed gelastic epilepsy at the
age of 3 years 5 months and precocious puberty at 3 years 8 months. A
hypothalamic hamartoma was found on MRI. The precocious puberty has b
een successfully medically managed, though her seizures are difficult
to control. The combination of all four features has not been describe
d previously.