Table 2 Central Nervous System (CNS) structural abnormalities in our cohort of patients
From: CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
CNS structural abnormalities: type | MRI/p.m.* | eco/CT | Tot. N° (%) a | Tot. N° (%) b |
|---|---|---|---|---|
Agenesis/hypoplasia of the Corpus Callosum (ACC) | 34/42 (80.95) | 11/29 (37.93) | 45/71 (63.38) | 45/117(38.46) |
Intracerebral arachnoid cysts | 19/42 (45.24) | 6/29 (20.69) | 25/71 (35.21) | 25/117(21.36) |
Malformations of cortical development (MCDs) | 22/42 (52.38) | 1/29 (3.45) | 23/71 (32.39) | 23/117(19.65) |
Cerebellar developmental anomalies (CDAs) | 18/42 (42.86) | 2/29 (6.9) | 20/71 (28.17) | 20/117(17.09) |
- Dandy-Walker Malformation (DWM) | 5/42 (11.90) | 0/29 (0) | 5/71 (7.04) | 5/117(4.27) |
Cerebral atrophy/hypoplasia | 5/42 (11.90) | 4/29 (13.79) | 9/71 (12.68) | 9/117(7.69) |
Hydrocephalus/ventriculomegaly | 6/42 (14.29) | 2/29 (6.9) | 8/71 (11.27) | 8/117(6.83) |
Porencephaly | 1/42 (2.38) | 2/29 (6.9) | 3/71 (4.22) | 3/117(2.56) |
Brain stem anomalies | 2/42 (4.76) | 0/29 (0) | 2/71 (2.82) | 2/117(1.7) |
Hypothalamic hamartoma | 1/42 (2.38) | 0/29 (0) | 1/71 (1.41) | 1/117(0.85) |
Total | 42/42 (100) | 21/29 (72.41) | 63/71 (88.73) | 63/117(53.84) |