ESPE Abstracts

Introduction: McCune–Albright syndrome (MAS) is a rare disease defined by café-au-lait spots, gonadotropin-precocious puberty and fibrous dysplasia. It could be associated with others endocrinopathies: thyroid involvement as a common feature. The prevalence is very low, being outstanding the neonatal diagnosis, especially in males.

Case presentation: A male term newborn with a café-au-lait extensive spot involving the back, arms, legs and scrotal area, was hospitalized in the neonatal unit at 12 h of life with respiratory distress, which disappears after 48 h. There were no family pathologic history, neither parent’s blood relatives. On day of life (DOL) 5 he presented jaundice, acholia and chyluria, without hepatomegaly. Conjugated bilirrubin reached 15.95 mg/dl on DOL 17: total bilirubin was 20.2 mg/dl. Common causes of cholestasis were discharted. TSH was 0.1 μIU/l, thryroxine (T₄) 32.7 pg/ml and triiodothyronine (T₃) 6.44 pg/ml. Anti-thyroid antibodies were negatives. Thyroid sonography was normal. In DOL 12, he started respiratory distress and tachycardia. He initiated propranolol, lugol and methimazole. He developed dilated left cardiac cavities and slight pericardial effusion. Thyroid profile normalized in 30 days. Bilirubin decreased but GOT and GPT increased up to 280 and 499 U/l. Basal GH was 11.8 ng/ml. Cortisol, and growing factors were normal. Radiological image showed ground glass density, forming the pattern of polyostotic fibrous dysplasia. On DOL 45, he showed haematological profile of aplastic anaemia. Bone marrow exam indicated selective erythoblastopenia. The café-au-lait spot was biopsied, being compatible with the typical macule of MAS. Karyotype was normal. Results for genetic testing for the gene GNAS1 are still unknown.

Conclusions: The diagnosis of MAS must be suspected in a newborn with fibrous displasia, café-au-lait macules and endocrinological disorders, despite the low incidence or male condition. Early treatment is essential; It’s not enough to diagnose the entities which comprises, but the possible side effects of the drugs and their impact on children’s development.