Multifocal lymphangioendotheliomatosis with devastating intracranial hemorrhage

Case report

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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.

Abbreviations used in this paper:LYVE-1 = lymphatic vessel endothelial hyaluronan receptor-1; MLT = multifocal lymphangioendotheliomatosis with thrombocytopenia.

Article Information

Address correspondence to: Mark S. Dias, M.D., Department of Neurosurgery EC110, Penn State Hershey Medical Center, 500 University Dr., Hershey, PA 17033. email: mdias@hmc.psu.edu.

Please include this information when citing this paper: published online September 20, 2013; DOI: 10.3171/2013.8.PEDS12604.

© AANS, except where prohibited by US copyright law.

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Figures

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    Magnetic resonance imaging at 22 weeks' gestation. Left: Sagittal T2-weighted MR image demonstrating severe hydrocephalus and aplasia of the cerebellar vermis consistent with a Dandy-Walker variant. Right: Axial T2-weighted MR image demonstrating severe hydrocephalus and small hemorrhage near the left foramen of Monro.

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    Photograph of skin manifestations of MLT at 4 weeks of age, demonstrating numerous blanching macules and plaques.

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    Postnatal MRI. Left: Sagittal precontrast T1-weighted MR image demonstrating a 5 ×5 ×4.5–cm cystic and solid hematoma in the midbrain, thalamus, and basal ganglia as well as severe hydrocephalus. The hematoma extended through the tentorial incisura and displaced the cerebellum inferiorly; therefore, the Dandy-Walker variant seen prenatally was difficult to confirm. After the administration of contrast, there was no enhancement of the mass. Right: Axial T2-weighted MR image showing a heterogeneous hematoma, severe hydrocephalus, and blood layering within both lateral ventricles.

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    Left frontoparietal paraventricular hematoma. Left: Axial T1-weighted MR image showing a heterogeneous hematoma with internal laminations. Again, severe hydrocephalus and intraventricular blood are present in the occipital horns bilaterally. Right: Axial T1-weighted MR image obtained after the administration of Gd, showing heterogeneous enhancement of the anterior portion of the hematoma cavity.

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    Photomicrograph of the skin lesion demonstrating ectatic clear spaces in the upper dermis lined by thin endothelial cells (arrows), resembling lymphatic vessels. H & E, original magnification ×4.

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