ESPE Abstracts (2018) 89 P-P2-321

ESPE2018 Poster Presentations Pituitary, Neuroendocrinology and Puberty P2 (37 abstracts)

Pallister Hall Syndrome: An Unusual Case of Central Precocious Puberty, Prolonged Vaginal Bleeding, Gelastic Seizures and Polysyndactyly in a 3 Month Old Infant

Larry Arciniegas , Beatriz Iglesias , Ariadna Campos , Fermina Lopez , Angel Sánchez Montañez & Maria Clemente

Vall d’Hebron, Barcelona Hospital Campus, Barcelona, Spain

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.

Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at 41 weeks. Weight 3330 g, length 52 cm, cephalic perimeter 33 cm. Posterior cleft palate, and polysyndactyly in hands and feet. Echocardiography evidences ostium secundum -type interauricular communication. From the first months of life, she reports stereotyped episodes of facial expression change, such as sudden laughing or crying of about 4-5 seconds suggestive of gelastic seizures. At 6 months of age, consultation for vaginal bleeding present from birth, with frequencies 1–2 times a month. Bilateral breast tissue was observed with hyperpigmented areolas, visible urinary meatus and vaginal introitus where the vaginal wall protrudes, so that, in view of this finding, she is transferred for assessment and follow-up by urology. We performed a peak GnRH stimulation test of LH and 79 U/l and FSH of 16.26 U/l, Estradiol 116.47 pg/ml, findings compatible with central precocious puberty. MRI showed an oval, solid, suprasellar lesion measuring 20×18×13 mm in diameter, compatible with pedunculated hypothalamic hamartoma. In pelvic MRI of uterus increased in size, with a cervix / fundus ratio greater than 1 with marked endometrial thickening. We successfully treated her with GnRh analogues (aGnRH), initial dose of 1875 mg: 0, 14, 28 days and then with 1,875 mg every 28 days. A genetic study was performed with the result GLI3 GEN: pathogenesis mutation not described: exon 15 c.3439G> T confirming the diagnosis of Pallister Hall syndrome. Gelastic seizures were treated with oxacarbamazepine, and the surgical resolution of the cleft palate and polysyndactyly was performed.

Conclusion: Precocious puberty at an early age with prolonged vaginal bleeding may be caused by an organic cause. Phenotypic anomalies with gelastic seizures lead us to a Pallister Hall syndrome. Our patient is one of the youngest infants presenting with CPP and HH in Spain and the treatment was successful after the first doses of aGnRH.

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