(805) Acute Kohlmeier-Degos Disease Causing Extensive Bowel Thrombosis and Necrosis

Introduction: Kohlmeier-Degos disease (Degos disease) is a rare microangiopathic disorder with approximately 30 reported cases of systemic disease in pediatrics. There are two variants, one involving the skin, and a systemic form involving the vasculature of the gastrointestinal, cardiothoracic, hepatorenal, ocular, and central nervous systems. This case is unique in the severity of bowel thrombosis and necrosis causing short gut syndrome.

Description: A 13–year old female presented with 3 days of nausea, vomiting, and abdominal pain and a 4 week history of skin lesions attributed to bed bugs. She was afebrile, tachypneic, and tachycardic. She had an anion gap metabolic acidosis. Lactic acid 3.2 mmol/L. CT imaging revealed pneumoperitoneum, peritonitis, and possible appendicitis. In the OR, exploratory laparotomy revealed a perforated distal ileum with small bowel edema and diffuse patchy areas of ischemia. A second-look laparotomy was performed with extensive bowel ischemia and diffuse white mural patches, requiring multiple small bowel resections. Due to concern for Degos disease, she received urgent treatment with eculizumab. A subsequent operative evaluation revealed patchy necrosis of the small bowel requiring massive small bowel resection. Treprostinil and heparin infusions were started. A fourth exploratory laparotomy revealed progression of necrosis requiring further small bowel resection, ostomy creation, two fistula creations, and gastrostomy tube placed. Skin biopsy returned with ulceration, necrosis, and thrombosis. Small bowel biopsy returned with extensive vascular thrombosis, C5b-9 deposition, patchy serosal adherent fibro-inflammatory material, luminal hemorrhage, and mesenteric fat necrosis confirming acute Degos disease. She will require long term total parenteral nutrition due to short gut syndrome, as well as life-long treatment with a C5 inhibitor and treprostinil.

Discussion: Degos disease is a rare thrombo-obliterative microangiopathy that can occur in children. C5 inhibition, anticoagulants, and prostacyclin therapy are options for treatment. This case highlights the severity of bowel ischemia and thrombosis that can occur. Early recognition and medical management are imperative to reduce mortality.