Multifocal Infiltrative Lymphangiomatosis in a Child and Successful Treatment With Sirolimus

Abstract

From the Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, NHS Trust and the Institute of Child Health, London, United Kingdom. Both authors contributed equally to this work. A 13-year-old boy had a history of extensive multifocal lymphangiomatosis diagnosed at the age of 2 years following presentation with soft tissue swelling over the left flank (Figure A). His magnetic resonance imaging scan revealed an extensive lesion on the left side of the back, extending into the erector spinae muscles, paraspinal regions, left sacroiliac joint and ilium, and within vertebral bodies L5 to T11 and involving the retroperitoneum, rectocrural, left inguinal, mediastinal, and base of the neck. It also infiltrated the spleen and intravertebral foramina (Supplemental Figure 1). The most worrisome complication was acute and chronic intracoagulopathy. The diagnosis was histologically confirmed (Supplemental Figure 2). The patient’s blood parameters were significantly deranged, especially a persistently very low platelet count, low fibrinogen, very high level of D-dimer and elevation of prothrombin time and partial thromboplastin time (Supplemental Figure 3). The lymphatic malformation on his spine caused ongoing pain and scoliosis, which was associated with physical and mobility impairment. After 2 years of treatment with sirolimus (1.5 mg once daily 0.8 mg/m/day) the patient was clinically well and maintained a good quality of