Pediatr Gastroenterol Hepatol Nutr.  2014 Mar;17(1):52-56.

Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum

• Choi BS
• Hong SJ
• Chu MA
• Lee SJ
• Lee JM
• Bae HI
• Choe BH

Abstract

We present a case of a 13-year-old boy with Gorham's disease involving the thoracic and lumbar spine, femur, and gastrointestinal (GI) tract, which was complicated by recurrent chylothorax and GI bleeding. The presenting symptoms were intermittent abdominal pain, back pain, and melena. Esophagogastroduodenoscopy and colonoscopy showed no abnormal lesions, but duodenal biopsy showed marked dilation of the lymphatics in the mucosa and submucosa, which revealed positive staining with a D2-40 immunohistochemical marker. In cases of GI bleeding with osteolysis, the expression of a D2-40 marker in the lymphatic endothelium of the GI tract may help to diagnose GI involvement in Gorham's disease. To the best of our knowledge, this is the first case report to pathologically demonstrate intestinal lymphatic malformation as a cause of GI bleeding in Gorham's disease.

Keyword

Gorham disease; Osteolysis; Gastrointestinal tract; Melena; Occult blood; Child

MeSH Terms

Abdominal Pain
Adolescent
Back Pain
Biopsy
Child
Chylothorax
Colonoscopy
Duodenum*
Endoscopy, Digestive System
Endothelium, Lymphatic
Femur
Gastrointestinal Tract*
Hemorrhage
Humans
Male
Melena
Mucous Membrane
Occult Blood
Osteolysis
Osteolysis, Essential
Spine

Figure

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  Fig. 1 (A) Magnetic resonance imaging (MRI) of the spine. Hyperintense areas of the T- and L-vertebrae on a T2-weighted image showing multiple osteolytic lesions (white arrows). (B) MRI of the pelvis. Hyperintense areas of both femur metaphysis and diaphysis on a T2-weighted image showing multiple osteolytic lesions (white arrows). (C) MRI of paravertebral mass. Soft tissue mass surrounding a left paraspinal space at the level of the T-vertebrae (white arrows).

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  Fig. 2 (A) Biopsy specimen of a paravertebral mass showing lymphatic endothelial cells of various shapes and sizes, highlighted by D2-40 immunohistochemical stain (×400), (B) Biopsy specimen of a paravertebral mass showing lymphatic endothelial cells of various shapes and sizes, highlighted by D2-40 immunohistochemical stain (×400).

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  Fig. 3 (A) Irregularly dilated thin-walled lymphatics within the submucosa of the duodenum, which stain positively with D2-40 immunohistochemical stain (×400), (B) Irregularly dilated thin-walled lymphatics within the submucosa of the duodenum, which stain positively with D2-40 immunohistochemical stain (×400).

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  Fig. 4 Pleural biopsy revealed thin-walled vessels of various shapes and sizes lined by a single layer of endothelial cells. Amorphous eosinophilic material was found within the lumens and aggregates of lymphocytes were located in the vessels. Immunohistochemical staining with D2-40 identified lymphatic endothelial cells (×400).

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