Multifocal lymphangioendotheliomatosis with devastating intracranial hemorrhage

Abstract

<jats:p>An in utero female was found to have a small hemorrhage at the foramen of Monro, hydrocephalus, and what was originally interpreted as a Dandy-Walker variant. At birth she had macrocephaly and numerous cutaneous, multifocal, red-pink blanchable macules. Postnatal MRI demonstrated a hemorrhagic soft-tissue mass involving the upper brainstem, thalamus, and basal ganglia most consistent with in utero complex multifocal intracranial hemorrhage. The skin lesions were thought to be consistent with multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT). The size and location of the hemorrhage precluded operative intervention, although the hydrocephalus was treated with a ventricular shunt. The child continues to have severe developmental delays. Multifocal lymphangioendotheliomatosis with thrombocytopenia is a multifocal vascular disorder most commonly involving the skin and gastrointestinal tract. Intracranial hemorrhages are rare in this context. This case is the third reported instance of MLT with associated intracranial hemorrhage and the only case described in the neurosurgical literature. The authors review the presenting features and pathophysiology of this condition.</jats:p>

2014 Revised Classification of Vascular Lesions from the International Society for the Study of Vascular Anomalies: Radiologic-Pathologic Update

“…These conditions typically manifest as numerous congenital plaques, macules, and papules with onset of gastrointestinal hemorrhage in infancy. Radiologic testing has not played a significant role in diagnosis of these patients to date, although complications (including multiple reports of intracranial hemorrhage) have warranted imaging and could raise the possibility of this diagnosis in the correct clinical setting (59)(60)(61). Imaging may prove useful in screening for lesions in other locations (such as the lungs).…”

Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus

“…MLT has been described in several publications, although different names have been used (). To our knowledge, our report is the second to describe the treatment of MLT with sirolimus .…”

“…Cases without GI involvement have been published (4,5). Other organs can be affected, such as the central nervous system (3,4,(6)(7)(8)(9), lungs, kidneys, muscle, bones, bone marrow, synovium, spleen, and retina (3,(7)(8)(9). Platelet counts may be normal at birth, although thrombocytopenia may develop in the first weeks of life, generally without consumption of clotting factors.…”