Article Figures & Data
Figures
- Fig 1.
Three siblings with HHT and malformations of cortical development. Axial T1 MPRAGE demonstrates bilateral periventricular nodular heterotopia (A, arrows) in a 9-year-old boy. Sagittal T1 MPRAGE demonstrates extensive perisylvian PMG (B) in a 12-year-old boy. Axial T1 MPRAGE demonstrates thickened and excessively convoluted cortex in the left posterior frontoparietal region (C, arrow), consistent with PMG.
- Fig 2.
Eleven-year-old boy with unilateral, multifocal PMG and an AVM. Sagittal T1 MPRAGE shows extensive PMG in the right parietotemporal region (A, arrow). An additional, smaller focus of PMG is seen in the right frontal lobe (B, arrow). Immediately adjacent to the right frontal PMG, postcontrast MRA demonstrates a small enhancing nidus (C, arrow) with cortical venous drainage, consistent with an AVM.
Tables
Characteristic Summary Demographics, no. (%) Female sex 63/116 (54.3) Age (yr) 9.2 ± 4.4 HHT-causing mutation, no. (%) Endoglin 31/46 (67.4) ALK1 10/46 (21.7) SMAD4 1/46 (2.2) All tests negative 4/46 (8.7) Vascular malformations, no. (%) Brain AVM 18/116 (15.5) Pulmonary AVM 38/113 (33.6) Curacao criteria, no. (%) Definite 78/116 (67.2) Possible or suspected 34/116 (29.3) Unlikely 4/116 (3.4) Patient Age Sex Curacao Genetics Family Genetics Pulmonary AVM Brain AVM Neurologic History MCD A 8 yr F 4 ENG ENG Y Y Headache L perisylvian PMG B 3 yr M 3 ENG Y N 1) L perisylvian PMG, 2) L inferior temporal PMG C 3 yr F 4 Ind Y Y Headache L perisylvian PMG D 7 yr F 4 Y N Headache 1) R perisylvian PMG, 2) R parietal PMG E 8 yr F 4 Y N Headache L temporal PMG F 3 mo F 2 ENG ENG N N Gait disorder R perisylvian PMG G 5 yr F 4 ENG ENG Y Y Stroke L perisylvian PMG along margin of AVM resection cavity H 9 yr M 3 N N Headache Bifrontal periventricular nodular heterotopia I 11 yr M 3 N N L parietal PMG J 12 yr M 4 Ind N L perisylvian PMG K 11 yr M 2 ENG N Y Headache 1) R parietotemporal PMG, 2) R frontal PMG adjacent to AVM L 15 yr F 2 SMAD4 N N Bifrontal periventricular nodular heterotopia M 8 yr M 4 Y Y 1) R frontal PMG adjacent to small AVM, 2) R mesial temporal PMG N 7 yr F 4 Y N Hemiplegia, epilepsy L frontal PMG adjacent to large porencephalic cyst Note:—Ind indicates indeterminate; L, left; R, right.
