Challenge in a Malrotation Case: Presentation Mimicking Severe Combined Immunodeficiency

Area of Science:

• Pediatric Surgery
• Neonatal Medicine
• Medical Diagnostics

Background:

• Intestinal malrotation is a congenital anomaly causing varied symptoms, including life-threatening midgut volvulus.
• Accurate diagnosis is challenging when symptoms overlap with other conditions, such as severe combined immunodeficiency (SCID).

Observation:

• A 2-month-old infant presented with midgut volvulus secondary to malrotation.
• Initial diagnosis was SCID, with persistent gastrointestinal issues despite treatment.
• Subsequent imaging revealed the underlying malrotation.

Findings:

• Delayed diagnosis of malrotation led to severe complications including intestinal perforation and sepsis.
• The infant ultimately died due to the consequences of the delayed diagnosis.

Implications:

• Gastrointestinal anomalies must be considered in the differential diagnosis of neonatal sepsis and immune suppression.
• Early imaging and a multidisciplinary approach are vital for timely diagnosis and treatment of malrotation.
• Prompt intervention can prevent fatal outcomes in infants with malrotation.