Hypothalamic hamartoma with skeletal malformations, gelastic epilepsy and precocious puberty.
A child is described who has skeletal malformations, gelastic epilepsy, precocious puberty and a hypothalamic hamartoma. The skeletal abnormalities 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 been successfully medically managed, though her seizures are difficult to control. The combination of all four features has not been described previously.
Minns
R A
RA
Department of Child Life and Health, University of Edinburgh, UK.
Stirling
H F
HF
Wu
F C
FC
D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000150:complications*; D005260:Female; D006222:Hamartoma / Q000150:complications*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000150:complications*; D011629:Puberty, Precocious / Q000150:complications*