Precocious puberty in a case with probable Angelman syndrome

The authors report a 9-year-old girl with mid-facial hypoplasia, maxillary hypoplasia, prognathia, microbrachycephaly, mouth opening and protruding tongue. She also had psychomotor retardation such as mental retardation and speech delay. Frequent laughter fits and seizure disorder was also noted. Although the high resolution chromosome study failed to demonstrate any deletion of chromosome 15q, the clinical picture was compatible with Angelman syndrome. Breast development at the age of six and rapid progression of bone age was noted at follow up. After a series of examinations, the diagnosis of gonadotropin-dependent precocious puberty was made. MRI of brain revealed an intermediate cyst in the pituitary gland and slightly enlarged pineal gland. However, serum alpha-fetoprotein and beta-HCG were undetectable and the size of the pineal gland remained the same at the 1-year follow-up. She was treated with long-acting GnRH analogue and valproic acid. The combination of precocious puberty and Angelman syndrome has not been reported before and such association needs further experience for clarification.