Table 13 Summary of prominent neuroradiological findings found in patients with MDS reported in prominent case series with MRI studies; NR = not reported
From: A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Seizure type | Honda et al. [85] | El Chehadeh et al. [65] | Takeguchi et al. [84] |
|---|---|---|---|
n/N (%) | n/N (%) | n/N (%) | |
Abnormal imaging findings | 10/12 (83%) | 28/30 (93%) | 20/23 (87%) |
≥ 2 brain MRI abnormalities | NR | 25/30 (83%) | 10/23 (43%) |
Abnormal intensities in deep white matter | NR | 6/30 (20%) | 9/23 (39%) |
Reduced white matter volume | 3/11 (27%)* | 12/30 (40%) | 3/23 (13%) |
Delayed white matter myelination | 1/11 (9%) | 9/30 (30%) | NR |
Corpus callosum (CC) abnormalities | 6/11 (54%)† | 20/30 (67%)‡ | 7/23 (30%)§ |
Cerebellar abnormalities | 3/11 (27%)¶ | 10/30 (33%)¶# | 5/23 (22%)¶ |
Cerebral atrophy | 8/11 (73%) | NR | 6/23 (26%) |
Brain stem atrophy | 2/11 (8%) | NR | NR |
Persistence of the cavum septum pellucidum | NR | 12/30 (40%) | 5/23 (22%) |
Dilatated lateral ventricles | 4/11 (36%) | 9/30 (30%) | NR |
Dilatated Robin-Virchow spaces | 1/11 (9%) | 1/30 (3%) | 2/23 (9%) |