The proposita was the second child of healthy nonconsanguineous Japanese parents. She was born at 38 weeks of gestation after an unremarkable pregnancy. Her birth weight was 2,820 g (−0.14 SD), length was 48.0 cm (−0.20 SD), and head circumference was 33.0 cm (−0.08 SD). During infancy, she was found to have mildly delayed psychomotor development. She also exhibited feeding difficulty and failure to thrive, leading to growth retardation. Subtle but characteristic dysmorphic facial features, including mild hypertelorism, a depressed nasal bridge, and low-set ears with thickened helices, were noted ( Figure 1).Blood tests were unremarkable and G-band karyotyping indicated 46,XX. No congenital heart defect was detected by echocardiography. Brain magnetic resonance imaging and electroencephalogram were normal. Ophthalmologic evaluation revealed intermittent exotropia and hypermetropic astigmatism. Mild hearing loss was also noted. Any hemorrhagic episodes such as easy bruising, epistaxis, or gum bleeding had not been recognized.At 4 years of age, she was admitted to our hospital because of frequent vomiting and diarrhea for 2 days. Acute infectious gastroenteritis was initially suspected, but the specific causative agents were not identified. The next day, her condition deteriorated and hematemesis was observed. She responded to painful stimuli by opening her eyes and moving her extremities but generally looked weak and lethargic. Her vital signs indicated hypovolemic shock. Her abdomen was flat without apparent tenderness but a hen egg-sized mass at the right lower quadrant was palpable. Bowel sounds were almost absent. Emergency abdominal ultrasonography and computed tomography (CT) scan revealed a heterogeneous mass extending from the bulb to the fourth portion of the duodenum, which was 2.7 cm thick and obstructed the duodenal lumen (Figure 2). The liver, spleen, adrenal glands, and genitourinary organs were normal. Laboratory values were not significant, including platelet count and coagulation parameters. Based on these observations, the diagnosis of intramural duodenal hematoma (IDH) was made. She was treated conservatively because perforation was unlikely. Red blood cell transfusion was rapidly administered, and continuous nasogastric tube suction and total parental nutrition were established. Esophagogastroduodenoscopy was not performed because of the potential risk of hemorrhage from the hematoma. Her condition gradually improved, coincident with the decreasing size of the hematoma, which was noted with a periodical ultrasonography follow-up. On hospital day 17, an upper gastrointestinal contrast study revealed that the duodenal obstruction was almost relieved, so nasogastric intubation was discontinued and oral fluid intake was resumed. An abdominal CT scan on hospital day 34 showed complete resolution of the hematoma. Structural anomalies such as tumorous lesions or vascular malformations were not detected. Normal diet was restored on hospital day 35 and 2 days later she was discharged. No recurrence of s...