[Forms of clinical presentation of hypothalamic hamartoma].

Hypothalamic hamartomas (HHs) are benign tumours composed of ectopic neural and glial tissue. The prevalence is of 1--2 cases per 100 000 inhabitants. HHs can be pedunculated, usually associated to central precocious puberty, or sessile, associated with epilepsy with gelastic seizures that are commonly refractory to treatment. We present four cases of HH, which started as precocious puberty in three children and as complex partial seizures and gelastic seizures in one other child. Of the three patients that presented precocious puberty as the initial symptom, two were female and one male. The girls sought care at ages 2 years (patient 1) and 4 years (patient 2) due to thelarche and accelerated growth rate. Physical examination revealed the patients were at the Tanner II stage. Hormone testing was performed. The results in patient 1 revealed: estradiol, 31.5 pg/mL (normal value [NV], 5--10 pg/mL); follicle-stimulating hormone (FSH), 3.58 IU/mL (NV, 0.50--2.41 IU/L); luteinizing hormone (LH), 0.66 IU/mL (NV, 0.01--0.21 IU/L). The results in patient 2 were: estradiol, 33 ng/L (NV, 5--10 pg/mL) and a maximum peak level of LH after stimulation with gonadotropin-releasing hormone (GnRH) of 29 mIU/mL (NV, <7 IU/L). In both cases, bone age was advanced and pelvic ultrasound showed pubertal morphology of the uterus and adnexa. The third case corresponded to a male 3 years and 10 months of age (patient 3) that sought care for premature pubarche. Physical examination revealed a Prader testicular volume of 5 mL. Hormone testing showed a maximum peak level of LH after stimulation with GnRH of 13 mIU/mL and a testosterone level of 1.6 ng/mL (NV, 0.02--0.23 ng/mL). Bone age was advanced compared to chronological age. Brain magnetic resonance imaging (MRI) revealed a pedunculated HH, the size of which was 11 mm in patient 1, 8 mm in patient 2, and 17 mm in patient 3, with all three of them located in the tuber cinereum (Fig. 1). All three cases responded well to treatment with a GnRH analogue.