Abstract Background: McCune–Albright syndrome (MAS) is a genetic disorder characterized by fibrous dysplasia, café-au-lait macules, and hyperfunctioning endocrinopathies. We report a case of MAS with a rare, early presentation of neonatal cholestasis. Clinical Description: A 1-month-old term, small for gestational age, female infant presented with café-au-lait macules and persistent conjugated hyperbilirubinemia since Day 10 of life. Besides biopsy findings of focal giant cell hepatitis, other investigations were inconclusive. At 5.5 months of age, the infant manifested with vaginal bleeding with breast and pubic hair development. Imaging showed bilateral nephrocalcinosis and a multiloculated ovarian cyst. Hormonal workup indicated gonadotropin-independent precocious puberty and subclinical hyperthyroidism. Radiological studies ruled out fibrous dysplasia. Management and Outcome: Based on the findings, MAS was suspected. Following treatment with letrozole, the child showed resolution of vaginal bleeding, improved growth parameters, normalization of thyroid and estradiol levels, disappearance of the ovarian cyst, and no worsening of liver function by 10 months of age. Conclusion: This case illustrates an unusual neonatal onset of features of MAS, where cholestasis preceded classical endocrine features.
Neha et al. (Wed,) studied this question.