Table 1 Clinical features and blood cell characteristics of 41 Chinese children incontinentia pigmenti
From: Central nervous system anomalies in 41 Chinese children incontinentia pigmenti
Patient | Gender | Age at consul-tation | Rash time | Age of present neurological signs | EEG | MRI/CT | Retinal lesions | WBC (× 109) | EO (× 109) | EO% | PLT (× 109) | Genetic testing/family history |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Female | 12 days | At birth | No | Normal | CT: normal | Not done | 12 | 2 | 16.8 | 627 | Not done/sporadic |
2 | Female | 20 h | At birth | No | Not done | Bilateral white matter decreased symmetrically, with CT value about 17.3–19.3HU | Not done | 15.9 | 2.1 | 13.4 | 568 | Not done/sporadic |
3 | Female | 4 days | At birth | No | Normal | CT showed symmetrical, low-density, patchy images in the white matter and Subarachnoid hemorrhage | Normal | 24.09 | 7.7 | 32 | 285 | Not done/sporadic |
4 | Female | 11 days | 7 days | No | Normal | CT showed symmetrical, low-density, patchy images in the white matter and subarachnoid hemorrhage, with CT value about 21HU | Normal | 26.7 | 12.2 | 45.8 | 474 | Not done/sporadic |
5 | Male | 53 days | At birth | Presented at age 50 days with delayed psychomotor development | Not done | CT showed symmetrical, low-density, | Not done | 7.16 | 0.35 | 4.44 | 382.4 | Not done/sporadic |
6 | Female | 4 days | 1 days | Presented at age 3 days with convulsions | Normal | CT showed Hypoxic-ischemic encephalopathy; MRI showed neonatal hypoxic-ischemic encephalopathy with small malacia lesions in the left frontal lobe | Not done | 15.2 | 0.53 | 3.4 | 564 | Not done/sporadic |
7 | Female | 48 days | 1 h | Presented with convulsions at age 36 days and with delayed psychomotor development at age 5 months | Multifocal spike and spike-and-wave discharges | CT showed cerebral ischemia at 20 days; MRI showed brain atrophy at 5 months | Normal | 15 | 1.5 | 10 | 694 | Not done/sporadic |
8 | Female | 5 days | At birth | No | Normal | CT showed symmetrical, low-density, patchy images in the white matter | Retinal vascular tortuosity and telangiectasis with neovascularization | 13.5 | 2.7 | 20.2 | 975 | Not done/inherited |
9 | Female | 3 days | At birth | No | Normal | CT showed symmetrical, low-density, patchy images in the white matter | Normal | 10.3 | 0.8 | 7.4 | 289 | Deletion of exons 4–10 of the IKBKG gene/sporadic |
10 | Female | 12 days | At birth | No | Not done | Not done | Normal | 19.7 | 4.8 | 24.2 | 521 | Not done/inherited |
11 | Female | 19 days | 1 day | No | Not done | MRI normal | Normal | 32.2 | 19.9 | 61.9 | 328 | Not done/sporadic |
12 | Female | 78 days | At birth | No | Not done | Not done | Normal | 18.3 | 3.17 | 17.35 | 547 | Not done/sporadic |
13 | Female | 18 h | At birth | No | Not done | MRI showed subarachnoid hemorrhage | Not done | 18.8 | 1.4 | 7.5 | 274 | Not done/sporadic |
14 | Female | 1 day | At birth | Presented at age 1 day with convulsions | Not done | MRI showed neonatal hypoxic-ischemic encephalopathy in the right frontal lobe, left cerebral hemisphere and right centrum semiovale | Retinal vascular tortuosity and retinal telangiectasis with hemorrhage | 15.66 | 8.02 | 51.24 | 139 | Not done/sporadic |
15 | Female | 12 h | At birth | No | Not done | MRI normal | Retinal vascular tortuosity and retinal telangiectasis with hemorrhage | 5.87 | 0.66 | 11.24 | 163 | Deletion of exons 4–10 of the IKBKG gene/sporadic |
16 | Female | 4 days | At birth | No | Not done | Not done | Not done | 12.03 | 1.18 | 9.74 | 328 | Deletion of exons 4–10 of the IKBKG gene/inherited |
17 | Female | 34 days | At birth | No | Normal | MRI normal | Normal | 8.3 | 0.95 | 11.44 | 340 | Not done/inherited |
18 | Female | 3 days | At birth | No | Not done | Not done | Not done | 23.96 | 9.54 | 39.8 | 563 | Deletion of exons 4–10 of the IKBKG gene/inherited |
19 | Female | 3 days | At birth | No | Not done | Not done | Not done | 20.7 | 7.9 | 37.7 | 457 | Deletion of exons 4–10 of the IKBKG gene Not done/inherited |
20 | Male | 3 days | At birth | No | Not done | Not done | Not done | 12.52 | 3.1 | 24.4 | 435 | No abnormalities were found |
21 | Female | 24 days | 28 days | No | Not done | Not done | Not done | 15.5 | 3.3 | 19 | 420 | Heterozygous mutation c.519-3_519dupCAGG |
22 | Female | 8 days | At birth | No | Normal | MRI normal | Normal | 18.81 | 6.1 | 32.5 | 553 | Deletion of exons 4–10 of the IKBKG gene |
23 | Female | 5 months | At birth | Presented at age 4 months with convulsions | Not available | CT showed cerebral ischemia at age 23 days; MRI showed left periventricular leukomalacia with decreased regional perfusion at 5 months | Not done | 13.72 | 3.69 | 26.9 | 598 | Not done/sporadic |
24 | Female | 5 months | 1 day | No | During waking, the right side of the brain discharges asynchronously | MRI showed right periventricular leukomalacia and small amount of subdural effusion on the forehead | Normal | 10.66 | 0.95 | 8.9 | 338 | Not done/sporadic |
25 | Female | 2 months | At birth | No | Slightly more early discharge during sleep | MRI showed Multiple acute and subacute cerebral infarction at 2 months | Not done | 15.6 | 1.87 | 12 | 389 | Not done/sporadic |
26 | Female | 11 days | At birth | Presented at age 11 days with convulsions | Not done | MRI normal | Familial exudative vitreoretinopathy-like changes with no V-shaped demarcations or peripheral neovascularization | 28.43 | 14.93 | 52.5 | 403 | Not done/sporadic |
27 | Female | 5 days | At birth | No | Multifocal spikes, sharp waves | MRI showed neonatal hypoxic-ischemic encephalopathy and subdural hemorrhage of the tentorium | Normal | 9.08 | 2.42 | 22.2 | 398 | Deletion of exons 4–10 of the IKBKG gene |
28 | Female | 3 days | At birth | No | Not done | MRI normal | Normal | 10.54 | 2.15 | 20.4 | 335 | Not done/sporadic |
29 | Female | 3 days | At birth | No | Normal | MRI normal | Retinal vascular tortuosity and retinal telangiectasis with right retinal hemorrhage | 12.72 | 1.27 | 11 | 203 | Deletion of exons 4–10 of the IKBKG gene |
30 | Female | 4 days | At birth | No | Not done | Not done | Not done | 13.69 | 1.63 | 11.9 | 254 | Deletion of exons 4–10 of the IKBKG gene |
31 | Female | 5 days | At birth | No | Normal | MRI showed neonatal hypoxic-ischemic encephalopathy and Suboccipital subdural hemorrhage | Retinal vascular tortuosity and retinal telangiectasis with hemorrhage | 14.18 | 3.31 | 23.4 | 580 | Not done/sporadic |
32 | Female | 1 days | At birth | No | Not done | Ultrasound: pairs of side ventricles of the brain white matter enhanced echo | Normal | 8.38 | 0.61 | 7.3 | 182 | Not done/sporadic |
33 | Female | 1 days | At birth | No | Multifocal spikes, sharp waves | MRI normal | Normal | 12.79 | 2.78 | 21.8 | 354 | Deletion of exons 4–10 of the IKBKG gene |
34 | Female | 42 days | At birth | At age 15 days presented with convulsions | Not done | MRI showed neonatal hypoxic-ischemia at age 5 days; softening and atrophy in the left frontoparietal region at age 42 days | Retinal hemorrhage and vascularization of omentum vicryl was not seen in the peripheral region | 30.32 | 11.3 | 37.2 | Not done/sporadic | |
35 | Female | 2 years and 11 months | Not know | No | Not done | MRI showed cerebellar tonsillar hypoplasia with enlarged foramen median and occipital | Reduction of the optic disc | 8.13 | 0.76 | 9.3 | Not done/sporadic | |
36 | Female | 6 months | At birth | No | Not done | Not done | Not done | 18.35 | 0.2 | 0.5 | 832 | Not done/inherited |
37 | Female | 3 days | At birth | No | Multifocal spikes and sharp waves | MRI normal | Not done | 4.22 | 0.9 | 7.4 | 356 | Deletion of exons 4–10 of the IKBKG gene |
38 | Female | 5 months | Not know | No | Normal | MRI showed that the bilateral ventricles, prepontine cistern, and cisterna magna were enlarged | Not done | 5.55 | 0.04 | 0.7 | 126 | Deletion of exons 4–10 of the IKBKG gene/sporadic |
39 | Female | 19 days | At birth | No | Multifocal spikes and sharp waves | MRI showed white matter damage in the left area of cerebellar vermis and the right frontal cortex and subarachnoid hemorrhage | Normal | 9.3 | 0.73 | 7.8 | 389 | Not done/inherited |
40 | Male | 12 days | 3 days | No | Not done | MRI normal | Normal | 11.42 | 0.79 | 6.9 | 510 | Not done/sporadic |
41 | Male | 8 months | 30 days | 5 days | Hypsarrhythmia, particularly in sleep stage | MRI showed leukomalacia in the periventricular region and multiple malacia foci in the bilateral thalamus and cerebellum | Not done | 8.58 | 1.38 | 16.1 | 305 | Not done/sporadic |
Mean | 15.32 ± 7.27 × 109 | mean: 3.63 ± 4.46 × 109 | 19.30 ± 15.03% | 420.16 ± 179.43 × 109 |