Table 1.
Distribution of clinical, biochemical and radiological abnormalities across various families
| Case number | Gender | Age at onset (months) | Age at diagnosis (months) | Precipitating illness | Developmental category (n = 17) | Macrocephaly | Extrapyramidal symptoms | Seizures | Abnormal neuro radiological changesa | Elevated glutaryl carnitine (C5 DC) | Elevated urine elevated glutaric acid and its metabolites | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F2 | M | 2 | 3 | Fever, acute gastroenteritis, seizures | Normal development (3) | + | − | + | + | + | + | Alive |
| F10a | F | 6 | 132 | Seizure, vomiting | + | − | + | + | + | + | Alive | |
| F6 | M | 4.6 | 5 | Seizures | − | + | + | + | + | + | Alive | |
| F5 | F | 6 | 18 | Fever, seizures | Regressionb (6) | + | + | + | + | + | + | Died |
| F14 | F | 6 | 7 | Fever, seizures | + | + | + | + | + | + | Alive | |
| F10b | M | 5 | 24 | Fever, gastroenteritis | + | + | − | + | + | + | Alive | |
| F11a | F | 7 | 24 | Fever | − | + | − | + | + | − | Alive | |
| F11b | M | 6 | 12 | Seizures once only | − | + | − | + | − | − | Alive | |
| F12 | M | 7.6 | 10 | No | + | − | +c | + | + | + | Alive | |
| F9 | F | 12 | 192 | No | Developmental delay (4) | + | +d | +c | + | + | Alive | |
| F1 | M | 10 | 54 | No | + | + | − | + | + | + | Alive | |
| F4 | M | 6 | 10 | Pneumonia | + | − | − | + | + | + | Alive | |
| F15 | M | 6 | 30 | No | + | − | − | + | + | + | Alive | |
| F7 | M | 7 | 60 | Fever, seizures | Developmental delay and regressionb (4) | + | + | + | + | + | + | Alive |
| F8 | F | 6 | 36 | Injection | − | + | − | + | + | + | Alive | |
| F3 | F | 6 | 6 | Fever, seizures | + | + | − | + | + | + | Died | |
| F13 | M | 8 | 10 | No | − | + | +c | + | + | + | Alive |
a Extrastriatal neuroradiological abnormalities
Temporal hypoplasia/frontotemporal atrophy, wide temporal and sylvian CSF spaces (bat-wing appearance) in F2, F4, F6, F7, F8, F9, F10b, F12, F15
Subdural hygroma F2, F4, F10a, F12
Hyperintensities in globus pallidus (GP)] and thalamus (T) – F4 (GP), F8 (T), F13 (GP)
Striatal neuroradiological abnormalities – hyperintensities in caudate (C), putamen (P), F1 (P), F2 (C,P), F3 (C,P), F4 (P), F5 (P,C), F6 (P), F8 (P), F10b (C,P), F11a (P), F15 (C,P)
bLoss of intentional motor control
cMyoclonic seizures
dChorieform movements