Neonatal McCune-Albright syndrome with survival beyond two years

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• McCune-Albright syndrome (MAS) is a rare genetic disorder caused by a somatic mutation in the GNAS1 gene.
• This mutation affects the Gs alpha subunit, disrupting G-protein coupled receptor signaling pathways.
• MAS can lead to diverse hormonal and non-hormonal manifestations.

Observation:

• A neonate presented with diabetes and suspected cardiac issues, later diagnosed with ACTH-independent Cushing syndrome.
• The patient exhibited multi-system involvement but lacked the classic MAS triad of café-au-lait spots, fibrous dysplasia, or precocious puberty.
• This case represents the only reported survivor of neonatal MAS.

Findings:

• The patient's presentation of neonatal Cushing syndrome and diabetes, without classic MAS features, underscores the syndrome's variable phenotype.
• Successful medical and surgical management led to the patient's survival.
• This case highlights the importance of recognizing MAS beyond its typical presentation.

Implications:

• Clinicians should consider MAS in neonates presenting with atypical endocrine and non-endocrine symptoms.
• Early diagnosis and comprehensive management can improve outcomes for infants with neonatal MAS.
• This report expands the understanding of MAS survivability in its earliest and most severe form.