Table 1

Neurological assessments of patients

Patient 1Patient 2Patient 3Patient 4Patient 5
Age at diagnosis3 weeks5.5 months6 weeks2 weeks3 months
Age at referral4 months6 months9 months7 weeks5 months
Neurological findings
OFC (centile)75903< 3> 90
 Length (centile)2550339
 FeaturesNormalDelay in head controlMild motor delaySpastic tetraplegiaDevelopmental delay
Brain imaging
CTNormalVentricular dilatationNormalMarked cerebral atrophyMild cerebral atrophy
 MRINANANACerebral atrophyNA
Ophthalmological findings
ClinicalNormalNormalRoving nystagmusRoving nystagmusNo eye contact/“blind”
 FundoscopyNormalNormalOptic atrophyOptic atrophy, retinal  depigmentationNormal
 VERNormalNormalDelayed/attenuatedAbsentDelayed/ broadened
ENT findings
  • AER, auditory evoked response; CT, computed tomography; ENT, ear, nose and throat; ERG, electroretinogram; MRI, magnetic resonance imaging; NA, not available; OFC, occipitofrontal circumference; VER, visually evoked response.