Sex | Male | Male | Male | Male | Female | Female | Male |
Age at onset (months) | 5 | 6 | 4 | 6 | 6 | 6 | 9 |
First symptoms | Failure to thrive, refusal to wean | Failure to thrive, refusal to wean | Focal seizures | Failure to thrive, refusal to wean | Failure to thrive | Failure to thrive | Refusal of solid foods, pallor, weakness |
Patient’s history | Vomiting, weight loss, constipation | Irritability, muscular hypotonia, loss of milestone | Seizures | Psychomotor retardation, muscular hypotonia | Severe psychomotor retardation | Vomiting, weight loss | Psychomotor retardation |
Mother’ s diet | Vegan | Vegan | Vegan | Vegan | Vegan | Vegan | Diabetic |
Diagnostic delay (months) | 7 | 1 | – | 5 | 3 | 2 | 3 |
Age at diagnosis (months) | 12 | 7 | 4 | 11 | 9 | 8 | 12 |
Weight/length at diagnosis | <3rd centile | <3rd centile | 50th centile | <3rd centile | <3rd/10th centile | <3rd centile | 50th centile |
Presentation at diagnosis | No ability to sit, muscular hypotonia, poor social contact, no vocalisation | Apathy, no ability to sit, muscular hypotonia, poor social contact | Focal seizures | Apathy | Apathy, muscular hypotonia | Apathy | Apathy |
MRI at diagnosis | – | – | Mild brain atrophy | Brain atrophy, retarded myelination | Brain atrophy | Brain atrophy | Brain atrophy |
EEG at diagnosis | Normal | Normal | Hypsarrhythmia | Moderate diffuse encephalopathy | Normal | – | Normal |
Follow up | Improvement of social and motor activity, weight gain | Improvement of social and motor activity, weight gain | Therapy resistant seizures | Improvement of social and motor activity, weight gain | Slow recovery, weight gain | Slow recovery, weight gain | Improvement of social and motor activity, weight gain |
MRI follow up | – | – | Brain atrophy | Retarded myelination | Normal | – | Normal |
Outcome at age/months | Lost to follow up | Complete recovery /30 | West syndrome, mild hemiparesis, no active speech/24 | Complete recovery/24 | Slight psychomotor retardation, impaired fine motor skills/19 | Psychomotor retardation/12 | Slight muscular hypotonia/26 |