It’s not in to be thin: SMA syndrome


Case presentation

A 14-year-old male is brought to the emergency department with severe diffuse abdominal pain. He has had multiple episodes of nonbloody but bilious emesis accompanying the pain. There has been no fever, diarrhea, or trauma. There are no sick contacts or travel. He has had decreased oral intake of both solids and fluids due to nausea over the past 5 days. Notably, his weight is 30.7 kg and height is 177 cm (body mass index of 9.6 kg/m 2 ).

Physical examination reveals a miserable appearing afebrile child lying in a fetal position in obvious discomfort. His vital signs are a heart rate of 130 beats per minute, respiratory rate of 30 breaths per minute, and a blood pressure of 127/80 mm Hg. Noticeably, the child is quite thin and appears malnourished. He is difficult to examine but he indicates that he has diffuse abdominal pain that you are unable to localize and his abdomen appears to be distended.

As you consider imaging options, his mother tells you that the child has a history of “liver problems” and was “a preemie, but did not stay in the NICU for more than a few weeks.” She is unable to elaborate further on this bit of history.

Imaging considerations

Pediatric abdominal pain is one of the most common symptoms encountered in the emergency department. Most of these children have a benign or self-limited cause, such as a viral illness or constipation. A thorough history and physical examination will often assist the clinician in determining the etiology of abdominal pain, and not all children require imaging.

Abdominal imaging should be considered in any child in whom a potentially complex surgical condition is a concern (such as appendicitis with abscess) or in whom bowel obstruction is suspected or when a diagnosis is in question and imaging will help clarify a clinical situation. This child has thin body habitus and signs of bowel obstruction.

There are several options available to the clinician.

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