Expanding the phenotype of multifocal lymphangioendotheliomatosis with thrombocytopenia

Abstract

Multifocal lymphangioendotheliomatosis with thrombocytopenia is characterized by vascular skin and gastrointestinal (GI) tract lesions, thrombocytopenia, and GI bleeding. The first patient had scattered red macules and subcutaneous nodules on the skin with involvement of the lungs, liver, omentum, and right kidney. At 10 months of age he continues to have severe GI bleeding. The second patient had innumerable vascular plaques on the skin plus muscle, bone, lung, liver, and brain involvement. She died from respiratory failure at 8 months of age due to brainstem involvement. Both patients required aggressive management of GI bleeding, but had quite different skin findings and long-term outcomes.

Capsule endoscopy performed across the pediatric age range: indications, incomplete studies, and utility in management of inflammatory bowel disease

“…The youngest patient was 10 months old, weighed 11.5 kg, and underwent CE for multifocal lymphangioendotheliomatosis with thrombocytopenia, a rare vascular condition with recurrent lifethreatening GI bleeds. 11 A majority of the patients (70%) swallowed the capsule, the youngest being 5.8 years of age. Repeat studies were performed 1 week to 27 months later for incomplete studies (n ϭ 4), inadequate visualization (n ϭ 1), and assessment of small-bowel disease (n ϭ 1).…”

Multifocal lymphangioendotheliomatosis with devastating intracranial hemorrhage

“…8 Maronn et al described an infant with numerous lesions involving skin, muscle, bone, lung, liver, and brain. 5 The child had several intracranial hemorrhages that, over several months, increased in both size and number with extensive brainstem and cervical spinal cord involvement. The child demonstrated progressive opisthotonus and periods of apnea and died of respiratory failure at 8 months of age.…”

“…Treatments include systemic corticosteroids, vincristine, interferon a2A, thalidomide, and, most recently, bevacizumab (Avastin, Genentech Inc.). 4,5,7,8 The prognosis is poor with eventual death in nearly two-thirds of affected infants.…”

“…The overall mortality rate is estimated at 65%. 2 Intracranial hemorrhage is a rare complication of MLT; only 3 such cases have been reported, 5,8 and none of these has been presented in the neurosurgical literature. We describe the case of a female with a prenatally diagnosed intracranial mass who, at birth, had multiple cutaneous lesions suggestive of MLT.…”

Diffuse neonatal hemangiomatosis: An evidence-based review of case reports in the literature

“…This condition typically presents in the neonatal period with congenital and progressive multifocal GLUT-1-negative vascular lesions, profound thrombocytopenia, and widespread extracutaneous disease, often associated with severe gastrointestinal (GI) bleeding. [9][10][11][12] In our clinical experience, most patients with multifocal IH have an excellent prognosis with a low risk of mortality, whereas those with MLT have severe morbidities and a high mortality. We hypothesized that many cases previously reported as DNH with significant mortality were not multifocal IH.…”