Superior mesenteric artery syndrome associated with hereditary motor and sensory neuropathy type II--a case report

A 14-year-old girl with superior mesenteric artery (SMA) syndrome associated with hereditary motor and sensory neuropathy (HMSN) type II is reported. The initial presentations of HMSN type II were developmental delay and gait disturbance at 2 years of age. All deep tendon reflexes were absent. Nerve conduction velocities and left sural nerve biopsy all revealed axonal changes. Recently, she suffered from intermittent bilious vomiting and epigastralgia for 6 months. That caused body weight loss from 40 kg to 28 kg. Abdominal echography showed narrowed superior mesenteric artery angle. Upper gastrointestinal series revealed obstruction of third portion of duodenum. Accordingly, SMA syndrome was diagnosed. To the best of our knowledge, this case is the first report of SMA with HMSN type II in the world. When a child with chronic neurological disease presents with intermittent vomiting, SMA should be considered as a disease entity of differential diagnosis.