An 8-month-old boy with cutaneous vascular malformations and dermal melanocytosis (Mongolian spots, figure, A) on the face and trunk was diagnosed with phacomatosis pigmentovascularis type 2. He had normal neurodevelopment, but progressive macrocephaly (figure, B). Linear brain ultrasonography showed extensive venous angiomatosis in the prominent subarachnoid space (figure, C and D). MRI revealed cortical sulcal widening, prominent leptomeningeal vessels in an enlarged subarachnoid space (figure, E and F), and communicating hydrocephalus (figure, F). Neurologic involvement in phacomatosis pigmentovascularis is uncommon except in Sturge-Weber and Klippel-Trenaunay syndromes.1,2 Communicating hydrocephalus due to subarachnoid angiomatosis may be underdiagnosed in phacomatosis pigmentovascularis, and should be considered in cases of progressive macrocephaly.
Nevus flammeus and pigmentary abnormalities (A). Progressive macrocephaly (B). Prominent vasculatures in the subarachnoid space (white arrowheads) under linear (C) and power Doppler sonography (D) and 3D steady-state acquisition sequence MRI (E). Clustered leptomeningeal vessels in the enlarged subarachnoid space and nonobstructive ventriculomegaly on enhanced T1-weighted image (F).
Footnotes
Author contributions: All authors participated in the study concept and design and figure acquisitions. The manuscript was drafted by Dr. Chen and Dr. Tsai and revised by Dr. Huang. All the authors made an intellectual contribution to the final manuscript.
Study funding: No targeted funding reported.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- © 2013 American Academy of Neurology
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