EC Paediatrics

This is a case report of a 4-year-old girl with Tatton Brown Rahman Syndrome (TBRS), a rare syndrome caused by a mutation in the DNMT3A gene. This congenital anomaly is characterized by skeletal overgrowth, macrocephaly and characteristic facial features.

The patient was referred to paediatric surgery in view of uncomplicated hernia via centrally located abdominal wall defect which presented since birth. After full investigations performed, she underwent the surgical repair of cardiac defects, medical optimisation and systems clinical review, the patient was scheduled for an elective repair of the congenital abdominal wall defect.

The hernia was corrected surgically without using a mesh, and the postoperative period was uneventful. Regular follow-up revealed no residual defects.

This case is unique because it describes the first documented case of a congenital hernia of the umbilical cord associated with TBRS, a rare congenital anomaly. Despite several similar overgrowth disorders associated with intellectual disabilities, TBRS is caused by a constitutive variant of the DNMT3A gene. Since TBRS is caused by a de novo pathogenic variant, most cases represent simplex cases. In conclusion, this case report highlights the importance of identifying and managing associated congenital anomalies in TBRS, particularly when they are rare and have not been reported previously.

Keywords: Tatton Brown Rahman Syndrome (TBRS); DNMT3A Gene; Congenital Abdominal Wall Defect

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