Spontaneous intestinal haematoma associated with neurofibromatosis type-1

Abstract

Vasculopathy in patients with neurofibromatosis-1 are rare but serious and have potentially life-threatening complications. It mostly involves the thoracic, abdominal and intracranial vessels. In this case study we describe the first reported case of spontaneous intestinal haematoma in a young male patient. The first episode occurred at the age of 30, following which 2 years later the second episode was noted at the same anatomical site, which was spontaneous without any inciting event.

Background

Vasculopathy are rarely seen in patients with neurofibromatosis (NF). Though uncommon, it carries a high risk of mortality. Among the various clinical manifestations, intestinal haematoma has never been described in the literature as a gastrointestinal manifestation of NF1.

Case presentation

We present a case of a 32-year-old African American man who presented to the emergency department with reports of 1-day history of dull abdominal pain and epigastric fullness, non-radiating, no relation to food or the character of pain does not change with position. He denies any history of recent trauma to the abdomen. Associated symptoms include nausea and a 10 pound weight loss in the past 2 months. His medical history is significant for NF1, diagnosed at the age of 16 and duodenal haematoma (figure 1) 2 years ago needing surgical evacuation then. He has café-au-lait macules and freckling in the inguinal region. The patient does not take any medications and has no known history of drug allergies. He agrees to drink around 4–6 glasses of beer everyday. His family history is unremarkable with no history of NF in the family.

Figure1.

Duodenal haematoma noted on the CT scan, first time presentation.

A suspicion of acute pancreatitis was raised; however, the patient had normal amylase and lipase levels. Other laboratory analysis showed normal liver function test and lactate. Coagulation studies were normal (prothrombin time 13.2 s, partial thromboplastin time 30 s, international normalised ratio 1.06, platelets 1,72,000/uL). An ultrasound of the abdomen ruled out presence of gallstones. Acute abdominal series was suggestive of small bowel obstruction, following which a CT scan of the abdomen was performed that showed 2.3 cm large haematoma around the second part of the duodenum similar to his previous presentation (figure 2). His haemoglobin was stable initially at 11.3 g/dL, but dropped to 7.6 g/dL within a span of 4 h. He was sent to interventional radiology for possible embolizstion of the bleeding artery; however, it failed to identify a source of bleeding. Following which a pigtail catheter was placed in the duodenum, for there were concerns for bowel ischaemia and obstruction due to compression from the haematoma, the catheter continued to drain 450 mL of gross blood for next 24–48 h. He received 2 units of packed red blood cell during this period. Esophagogastroduodenoscopy was conducted, that was normal. A nasogastric tube was placed for gastric decompression. Two days later, the patient showed clinical signs of improvement and started to tolerate oral feeds. His haemoglobin was stable at 11 g/dL. A repeat of CT scan 4 weeks later showed resolution of the previously seen haematoma.

Figure 2.

Recurrent duodenal haematoma noted at the same site.

Differential diagnosis

• Acute pancreatitis

• Acute Abdomen

• Small bowel obstruction

• Intestinal haematoma

Discussion

NF1 (von Recklinghausen's disease) is one of the most common autosomal dominant hereditary tumour syndromes. The hallmark of the disease is the presence of café-au-lait spots and cutaneous neurofibromas. Gastrointestinal involvement has been described in different forms, including true neurogenic tumours (neurofibromas, Schwannomas), interstitial cell of Cajal lesions (gastrointestinal stromal tumours), neuroendocrine tumours (carcinoids, gastrinoma, insulinoma) and rarely vasculopathies.¹ Vasculopathy, though rare, is one of the main contributors of early death in people with NF1. Incidence of reported cases is 3.6%.² Intramural haematomas commonly occur spontaneously or after trauma. Duodenal haematomas most commonly seen secondary to abdominal trauma.³ Spontaneous intestinal haematoma has never been described in the literature. We present a case of recurrent spontaneous intestinal haematoma as a gastrointestinal manifestation of NF1 which might be secondary to a vasculopathy, or other unidentified reasons.

Learning points.

• Vasculopathy is a rare, but important complication of neurofibromatosis type-1.

• First reported case of recurrent spontaneous intestinal haematoma in this population.

• Persons with neurofibromatosis type-1 presenting with abdominal pain, intestinal vasculopathy must be considered.