Patient (see fig 1) | Age at presentation (months) | Birth OFC (gestation in weeks) | Postnatal OFC (age in months) | Brain calcification | White matter hypodensities | CSF WCC/mm3 (age in months)† | IFN-α IU/l in CSF/serum* (age in months) |
---|---|---|---|---|---|---|---|
OFC = occipitofrontal circumference. WCC = white cell count. BG = basal ganglia. WM = white matter. PV = periventricular. DN = dentate nuclei. NK = not known. NA = not analysed. | |||||||
†Abnormal ≥5 cells/mm3. | |||||||
*Normal levels <2 IU/l. | |||||||
XI.8 | 1 | 35 cm (40) | 41 cm (27) | PV | Yes | 9 (1); | 100 / 20 (1); |
2 (12) | 100 / 25 (12) | ||||||
XII.5 | Birth | 35.5 cm (40) | 39.5 cm (8) | PV | Yes | 9 (24) | NA |
XII.7 | 1 | 33 cm (40) | <2nd centile (2) | BG | Yes | 47 (2) | NA |
XII.9 | Birth | NK | NK | BG, WM | Yes | 25 (5) | NA |
XII.12 | 9 | 35.5 cm (40) | 46 cm (20) | BG, WM | Yes | 5 (9) | 12/50 (9) |
XIII.8 | 2 | 33 cm (40) | 43 cm (48) | BG, DN | Yes | 11 (48) | NA |
XIV.3 | 1 | 34.5 cm (39) | 38 cm (3) | BG, WM, PV | Yes | 4 (3) | 50/NA (3) |