Introduction:

We present a unique case of familial intestinal failure secondary to chronic intestinal pseudo-obstruction (CIPO). Our patient is a 7-year-old male with longstanding feeding intolerance secondary to distension and vomiting that has required TPN. Additionally, he has a severe intracranial vasculopathy and a history of recurrent strokes. He had a sister who required TPN due to nonobstructive feeding intolerance, who passed away of complications related to stroke. While this association has been described in ACTA2 gene mutation disorders affecting systemic smooth muscle, our patients do not have an identified ACTA2 mutation. Therefore, we suspect a novel genetic mutation causing this phenotype of multi-system smooth muscle dysfunction. This unique case report expands the spectrum of disorders that should be considered in the evaluation of children with intestinal failure and suspected visceral myopathy.

Case Description:

This is a 7-year-old male with long standing history of vomiting, abdominal distension, and feeding intolerance, required parenteral nutrition for several years. Contrast imaging studies demonstrate diffuse small bowel dilation and slow colonic transit time, without evidence of anatomic obstruction. He also has a history of recurrent urinary tract infection, and markedly distended urinary bladder with bilateral hydronephrosis. These findings are highly suggestive of visceral myopathy. He has an established CNS vasculopathy with a Moyamoya-like presentation, with a history of chronic CNS infarction.

Family history is significant for a sister with similar gastrointestinal symptoms, requiring TPN. This sibling died following complications of a stroke.

Our patient and his sister had undergone genetic testing. ACTA2 mutation was not found. Other investigations are in progress to identify a causative mutation that might offer genotype-phenotype information.

Discussion:

An alpha-actin smooth muscle mutation can affect all smooth muscle in the body, leading to multi-system myopathy that may cause both intestinal failure and severe CNS vasculopathy. ACTA2 mutation disorders have been described in this presentation, although this spectrum of disorders is rare and not considered in the standard evaluation of patients with myopathic CIPO.

Conclusion:

This case illustrated the importance of multidisciplinary care when treating highly complex patients with intestinal failure, and the role of genetic testing within our field.