Table 5 CNS involvement in OFD type I

Total CNS involvement

20/31 (64.5)

71/117 (60.68)

91/148 (61.49)

Available MRI

7/31 (22.5)

42/71 (59.15)

49/102 (41.18)

Total CNS malformations

NR

63/71 (88.73)*

63/71 (88.73)

Agenesis/dysgenesis Corpus Callosum

13/16 (81.2)

34/42 (80.95)^a

47/58 (81.03)

Malformations cortical development (MCDs)

4/6 (66.6)

22/42 (52.38)^a

26/48 (54.17)

Cysts

7/13 (53.8)

19/42 (45.24)^a

26/55 (47.27)

Hydrocephalus/Porencephaly

8/13 (61.5)

7/42 (16.66)^a

15/55 (27.27)

Cerebellar developmental anomalies (CDAs)

NR

18/42 (42.86)^a

18/42 (42.86)

Cerebral atrophy/hypoplasia

NR

5/42 (11.90)^a

5/42 (11.90)

Brain stem anomalies

NR

2/42 (4.76)^a

2/42 (4.76)

Hypothalamic hamartoma

NR

1/42 (2.38)^a

1/42 (2.38)

MI/ psychomotor retardation

12/26 (46.1)

47/69 (68.12)

59/95 (62.1)

Epilepsy

4/25 (16.0)

10/69 (14.49)

14/94 (14.89)