[Preterm with Macroglossia and Persistent Hypoglycemia - Beckwith-Wiedemann Syndrome]

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder affecting approximately 1 in 10,000 to 21,000 live births.
• It is characterized by significant phenotypic variability, including macroglossia, asymmetry, and neonatal hypoglycemia.
• Molecular alterations in imprinted gene clusters on chromosome 11p15.5 are the primary cause of BWS.

Observation:

• A preterm female infant (32 0/7 weeks) was diagnosed with BWS postnatally due to a UPD(11)pat mutation.
• The infant experienced severe macroglossia, necessitating early tongue reduction surgery to address critical breathing and feeding difficulties.
• Persistent and difficult-to-manage neonatal hypoglycemia was a significant clinical challenge.

Findings:

• This case underscores the phenotypic variability of BWS, particularly the severity of macroglossia requiring early intervention.
• The UPD(11)pat mutation was identified as the underlying genetic cause.
• Management of neonatal hypoglycemia in this patient proved challenging and prolonged.

Implications:

• Early surgical intervention for macroglossia in BWS can be crucial for improving infant feeding and breathing.
• Understanding the genetic basis (UPD(11)pat) is vital for accurate diagnosis and prognosis.
• Complex cases of BWS require multidisciplinary management, especially for endocrine and surgical complications.