Table 2.
Summary of Clinical Findings
| Affected Person | Sex | Origin | Age at Presentation | Presenting Symptom | Maximal Motor Ability | Main Neurologic Features | Ophthalmologic Findings | Maximum CK (U/L) | Brain MRI Findings | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|
| P1 | M | Europe | 5 weeks | borderline macrocephaly | few steps with support | cognitive delay | optic nerve hypoplasia | 1,132 | polymicrogyria, fronto-temporal leukoencephalopathy, cerebellar cysts | MEB/FCMD-like |
| P2 | M | Turkey | 17 months | motor and cognitive delays | few steps with support | cognitive impairment | none | 894 | polymicrogyria, fronto-temporal leukoencephalopathy, brainstem and pontine hypoplasia, cerebellar dysplasia, cerebellar cysts | MEB/FCMD-like |
| P3 | F | USA (white) | birth | hypotonia, severe hydrocephalus | roll over (halfway) | epilepsy and absent cognitive development | optic nerve hypoplasia, bilateral lens opacities | 21,000 | severe hydrocephalus, cobblestone lissencephaly, ponto-cerebellar hyoplasia | WWS/WWS-like |
| P4 | M | South Africa | birth | hypotonia, severe hydrocephalus | no motor milestones attained | epilepsy and absent cognitive development | right-sided congenital glaucoma, left-sided microphthalmia and cataract, buphthalmia | 6,964 | severe hydrocephalus, cobblestone lissencephaly | WWS/WWS-like |
| P5 | F | South Africa | birth | hypotonia, hydrocephalus | no motor milestones attained | epilepsy and absent cognitive development | blindness | NA | hydrocephalus, cobblestone lissencephaly, profound hypomyelination | WWS/WWS-like |
| P6 | F | Saudi Arabia | 15 months | motor and cognitive delays | bottom shuffling | cognitive impairment | none (no formal ophthalmologic exam) | 1,740 | fronto-temporal leukoencephalopathy, cerebellar dysplasia | MEB/FCMD-like |
| P7 | M | USA (Hispanic) | birth | hypotonia and respiratory distress | no motor milestones attained | absent cognitive development | bilateral microphthalmia | 1,086 | severe hydrocephalus, cobblestone lissencephaly | WWS/WWS-like |
Abbreviations are as follows: CK, creatine kinase; M, male; F, female; FCMD, Fukuyama congenital muscular dystrophy; MEB, muscle-eye-brain disease; NA, not available; and WWS, Walker-Warburg syndrome. DNA was not available for P5.