Table 2. CNS anomalies in 54 patients with ECCL (adapted from Moog et al., 2007a[34])

Ref./ Pat. # / Sex, Age§ / Study / Lipoma
Intra-cranial / Lipoma
spinal / Cortical
Dysplasia / Atrophy, thin HEM / Arachn.
cyst / Porenc.
cyst / Enlarged LV / Corpus Callosum / Calcifi-cations / Other /
35 / F, 17m / MRI / + cp / ni / + / + / + / + c / 5
6 / M, 17y / CT / + / + / + / + c / Hypo CBL
36 / M, 6m / MRI / + cp / +
37 / M, 3y / CT, MRI / ni / + / + / + c / 1
7 / M, 9y / CT / ni / + / + / + c
8.1 / F, 4.5y / CT / ni / + / + / + / + hyd / + c / Heterotop.
8.2
14.3 / F, 14y
40y* / CT / - / + / + / + hyd / + c / skull defect
9 / F, 4m / CT, MRI / ni / + / + / + / + / + c
10 / M, 23y / CT, MRI / + / ni / + / + cbl
11 / F, 0m / CT, MRI / ni / + / + / + / + / ? / + pv
12 / F, 7m / CT, MRI / + cp / ni / + / + hyd
13
15 / M, 9y / CT, MRI / + cp / +
38 / F, 24y / MRI / + cp / ni / + / + / + / + / + / 1, 2
2.1
14.2 / M, 15y / Other* / ni / + / + / + c, p / 1, 4, 6
2.2
14.1 / M, 20m / CT / ni / + / + / + c, p / 4, 6
39 / M, 13y / CT / + / ni / + / + / + c
16 / M, 18m / CT, MRI / + cp / ni / + / + / ACC / + c
1 / M, 5y† / Pathology / + / + / + / + / 1 / 2
17
34.8 / M, 17 y / MRI / + cp / ni / -- / + / +? / +? / + / -- / Small R TL
18 / M, 7y / MRI / + / ni / + / 2
19
34.10 / F, 17y / MRI, CT / ni / + / + / +
20 / M, 1y / CT, MRI / ni / +
41 / F, 6y / CT / ni / + / + / + / + c
42 / F, 3y / MRI / + cp / +
30
34.9 / M, 12y / MRI, CT / -- / ni / -- / + / +? / +? / + / Thin posterior / + c, p, g / + signs of NF I
31 / F, 1y / CT, MRI / + / ni / + / + / + hyd / + c, o / 3, skull defect
43 / M, 0m / MRI / + cp / ni / + / + / + / + / 2, 6
32 / M, 9y / MRI / + / ni
33 / M, 1y / CT** / -- / -- / + / + / + c
44.1
45.2 / M, 10y / CT, MRI / -- / ni / -- / + / -- / -- / + / thin / Thin WM retroCBL fluid
44.2 / M, 5y / CT, MRI / + cp / + / + hyd / + o
44.3 / M, 9y / CT, MRI / -- / + / -- / -- / + / -- / -- / thin / + c / Hypo CBL, ECC
34.1 / M, 22m / MRI / + cp / + / -- / -- / -- / --
40
34.2 / M, 3y / CT, MRI / + cp / + / + / + / + / + hyd / thin / Thin WM
Hypo CBL
34.3 / F, 2y / CT, MRI / + / ni / -- / -- / -- / -- / -- / --
34.4 / M, 15y / CT, MRI / + / -- / -- / -- / -- / + / ACC / Deficient ant. falx
21 / F, 2y / CT, angio / ni / + / + / + / + / + o / 1
22 / M, 11m / CT, MRI / + cp / ni / + / + / + / + / + c, p,g
23.1 / M, 7y / CT, MRI / + cp / ni / + / + / + hyd / thin / + c, p, o / 2, 6
23.2 / M, 2y / CT, MRI / ni / + / + / + / thin / + c, p
46.2 / M, 8y / CT, MRI / + / + / + / + / + / DWM
47 / F, 7m / CT / + cp / ni / + / +
24
50.2 / F, 9y / MRI / + / ni
48 / F, 0m / MRI / ni / + / + / + / + / ACC / Septum pell. cyst
49 / M, 14y / CT / + cp / ni
25 / F, 2y / CT / ni / + / + / + hyd
26 / F / CT / ni / + / + / + c
50.1 / F, 1y / CT, MRI / ni / + / + ? / + / thin
51 / M, 2m / MRI / ni / 7
27.1 / F, 3m / MRI / + / ni
27.2 / M, 2m† / MRI / + cp / + / + hyd / + pv
52 / M, 0m / MRI / + cp / ni / + / + / + / 2, 6
28 / F, 8m / CT / + / + / +
53 / F, 21y / CT / + cp / ni / + / +

Legends:

M: Male, F: Female, *: personal communication, +: present, +?: possibly present, -: reported to be absent

Age§: age on last examination

Study: CT: cranial computed tomography; MRI: magnetic resonance imaging; * radionuclide brain scan, angiography, ventriculogram;** whole body CT;

Lipoma: cp: cerebello-pontine; ni: not investigated or not reported

HEM: hemisphere; LV: lateral ventricles; hyd: hydrocephalus; ACC: agenesis corpus callosum

Calcifications: c: cortical, cbl: cerebellar, g: gyriform, o: ocular, p: progressive, pv: periventricular

Other: DWM: Dandy Walker malformation; Hypo CBL: hypoplasia of cerebellum; ECC: enlarged cerebellar cistern; R TL: right thalamus; WM: white matter; 1: abnormal cerebral vessels; 2: (lepto/lipo)meningeal angiomatosis; 3: subependymal hemorrhage; 4: adipose tissue in subarachnoid space; 5: extensive melanosis of leptomeninges, left amygdala and cerebellar hemispheres, subarachnoid cyst; 6: defective insular opercularisation; 7: thickened meninges with overlying extracranial fatty masses

References: 35 Ahmed et al., 2002; 6 Alfonso et al., 1986; 36 Almer et al., 2003; 37 Amor et al., 2000; 7 Andreadis et al., 2004; 8 Bamforth et al., 1989; 9 Brown et al., 2003; 10 Chittenden et al., 2002; 11 Ciatti et al., 1998; 12 Cultrera et al., 2004; 13 Deda et al., 2001; 38 Donaire et al., 2005; 2 Fishman et al., 1978; 14 Fishman, 1987; 15 Fitoz et al., 2002; 39 Gokhale et al., 2007; 16 Grimalt et al., 1993; 1 Haberland & Perou, 1970; 17 Happle & Steijlen, 1993; 18 Hauber et al., 2003; 19 Hennekam, 1994; 40 Jones, 2006; 20 Kodsi et al., 1994; 41 Koishi et al., 2008; 42 Lasierra et al., 2003; 30 Legius et al., 1995; 31 Loggers et al., 1992; 43 López Sousa et al., 2007; 32 MacLaren et al., 1995; 33 Miyao et al., 1984; 44 Moog et al., 2007b; 34 Moog et al., 2007a; 45 Narbay et al., 1996; 21 Nosti-Martinez et al., 1995; 22 Nowaczyk et al., 2000; 23 Parazzini et al., 1999; 46 Pascual-Castroviejo et al., 2005; 47 Rathoriya & Shrivastava, 2006; 24 Romiti et al., 1999; 48 Rubegni et al., 2003; 49 Sant’Anna et al., 1999; 25 Sanchez et al., 1981; 26 Savage et al., 1985; 50 Sofiatti et al., 2006; 51 Stieler et al., 2008; 27 Torrelo et al., 2005; 52 Valladares et al., 2007; 28 Walbaum et al., 1979; 53 Zielinska-Kazmierska et al., 2005