Challenge in a Malrotation Case: Presentation Mimicking Severe Combined Immunodeficiency

Malrotation is a congenital anomaly characterized by improper positioning of the intestines that can cause a range of symptoms from asymptomatic to life-threatening, including midgut volvulus. Diagnosis of malrotation can be particularly challenging in cases where symptoms resemble those of other illnesses, such as severe combined immunodeficiency (SCID).

In this case study, we describe a 2-month-old girl with midgut volvulus secondary to malrotation. She was initially diagnosed with SCID and referred to our center for hematopoietic stem cell transplantation (HSCT). However, her gastrointestinal (GI) problems persisted even after receiving treatment for a suspected immunodeficiency. Imaging finally revealed the underlying malrotation. Unfortunately, by that time, the patient had developed major consequences, such as intestinal perforation, sepsis, and eventually death as a result of the delayed diagnosis.

This case highlights how crucial it is to take GI anomalies into account when making a differential diagnosis for newborns who present with sepsis and immune suppression. Early imaging and a multidisciplinary approach are essential for timely diagnosis and treatment to prevent the progression to a fatal outcome.