Pallister-Hall syndrome with hypoparathyroidism.
We report on a 5 2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.
Wacharasindhu
S
S
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. wacharasindhu@yahoo.com
Shotelersuk
V
V
Srivuthana
S
S
Yodvisitsak
W
W
Suwanwela
N
N
Savage
M O
MO
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis* / Q000209:etiology; D007011:Hypoparathyroidism / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D007029:Hypothalamic Neoplasms / Q000175:diagnosis*; D008297:Male; D017689:Polydactyly / Q000175:diagnosis; D011629:Puberty, Precocious / Q000209:etiology; D012640:Seizures / Q000209:etiology; D013577:Syndrome