Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushing syndrome and renal phosphate wasting. Skin and skeletal manifestation is the most non-endocrine pathology, but other tissues like gastrointestinal and hepatobiliary system has been also reported.
Objective and hypotheses: To report a case with early and sever manifestation of McCune Albright syndrome where diagnosis was not a straightforward.
Method: We report a 2 years old girl who was presented to medical attention at the age of 16 days with cholestatic jaundice with acholic stool and multiple hyperpigmented skin lesions involving right sided of the face, back, buttocks and thigh. She was found to have hyperthyroidism caused by hyperfunctioning nodule in the the left lobe of the thyroid gland, it was uncontrolled with medical treatment. At 4 months of age, she developed vaginal bleeding with high estradiol level and found to have large left ovarian cyst. It was recurrent and difficult to control. At 6 months of age, she developed hypoechoic lesion involving right lobe of the liver, these lesion was progressively worsening and required right lobectomy and lesion was confirmed histopathologically to be hepatic adenoma. She had multiple skeletal fracture involving right femur and clavicle which was a results of diffuse polyostotic fibroud dysplasia. Lastely, she shows an evidence of growth acceleration with advanced bone age which was a result of growth hormone excess with normal pituitary MRI (Picture and Tables will be provided).
Results: GNAs mutation was negative in both peripheral blood and skin tissue samples. Heterozygous GNAS mutation with a change from Arginine (CGT) at codon 201 to Histidine (CAT) was identified in liver tissue sample.
Conclusion: To our knowledge, such a sever neonatal form of McCune Albright syndrome is rarely reported in the literature. Non-endocrine manifestation has to be considered in the management of McCune Albright syndrome. GNAS mutation should be evaluated in the tissue affected if the blood and skin tests are negative.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology