McCune-Albright syndrome onset with vaginal bleeding

Area of Science:

• Pediatrics
• Genetics
• Endocrinology

Background:

• McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by polyostotic fibrous dysplasia (FD), café-au-lait spots, and precocious puberty.
• Diagnosis typically requires at least two of these three cardinal features.

Observation:

• A 4-year-old girl presented with vaginal bleeding, initially diagnosed as precocious puberty.
• Brain MRI revealed abnormalities consistent with FD in the maxillary and occipital bones.
• Subtle skin hyperpigmentation on the neck and back, initially overlooked, contributed to the MAS diagnosis.

Findings:

• The patient presented with precocious puberty and polyostotic fibrous dysplasia.
• Hormonal tests were within normal limits, underscoring the need for comprehensive evaluation beyond hormone levels.
• The diagnosis of MAS was confirmed through the combination of clinical signs and imaging findings.

Implications:

• Early and accurate diagnosis of MAS is crucial for appropriate management and intervention.
• Comprehensive medical evaluations, including detailed physical examinations and imaging, are essential for identifying all components of MAS.
• Recognizing subtle or overlooked symptoms like skin hyperpigmentation is vital for prompt diagnosis in pediatric cases.