Table 2.
Clinical information of patients reported in the literature
| Numbers | Percentage | |||
|---|---|---|---|---|
| Total cases | 42 | |||
| Clinical manifestation | ||||
| Developmental disorder | 40/42 | 95 | ||
| Developmental delay | 34/40 | 85 | ||
| Autism spectrum disorder | 4/40 | 10 | ||
| Minimum state of consciousness | 4/40 | 10 | ||
| Developmental regression | 6/40 | 15 | ||
| Epilepsy | 31/42 | 73 | ||
| Drug-refractory seizure | 20/31 | 64 | ||
| SE | 14/31 | 45 | ||
| Fever-induced or exacerbated seizure | 4/31 | 13 | ||
| Seizure types | 24/31 | 77 | ||
| Focal seizure | 10/24 | 41 | ||
| GTCS | 9/24 | 37 | ||
| Myoclonic seizure | 2/24 | 8 | ||
| Tonic seizure | 1/24 | 4 | ||
| Atonic seizure | 1/24 | 4 | ||
| Absence epilepsy | 1/24 | 4 | ||
| Anaemia | 30/42 | 71 | ||
| Anisocytosis | 10/30 | 33 | ||
| Normal cell anaemia | 5/30 | 16 | ||
| Small cell anaemia | 2/30 | 6 | ||
| Large cell anaemia | 1/30 | 3 | ||
| Extrapyramidal symptoms | 19/42 | 45 | ||
| Ataxia | 14/19 | 73 | ||
| Tremor | 7/19 | 36 | ||
| Gait abnormalities | 5/19 | 26 | ||
| Dysphagia | 10/42 | 23 | ||
| Hypotonia | 6/42 | 14 | ||
| Supplementary examination | ||||
| MRI | 24/42 | 57 | ||
| Brain atrophy | 11/24 | 73 | ||
| Whole brain atrophy | 7/24 | 29 | ||
| Cerebellar atrophy | 4/24 | 16 | ||
| Hydrocephalus | 2/24 | 8 | ||
| Delayed myelination | 2/24 | 8 | ||
| Agenesis of corpus callosum | 1/24 | 4 | ||
| Enlargement of lateral ventricle | 1/24 | 4 | ||
| Widening of extensive extracerebral space | 1/24 | 4 | ||
| EEG | 11/42 | 26 | ||
| Background | Normal | 6/11 | 54 | |
| Slow wave | 5/11 | 45 | ||
| Interictal Phase | Multifocal discharges | 6/11 | 54 | |
| Focal discharges | 2/11 | 18 | ||
| Ictal phase | Focal seizures | 4/11 | 36 | |
| Absence seizure | 1/11 | 9 | ||
| Myoclonic seizure | 1/11 | 9 | ||
| CAD mutations | 42/(80 site) | 100 | ||
| Missense mutations | 63/80 | 78 | ||
| Nonsense mutations | 12/80 | 15 | ||
| Splice site mutations | 5/80 | 6 | ||
| Uridine treatment | 18/42 | 42 | ||
| Development | Significant progress | 16/18 | 88 | |
| Not obvious progress | 2/18 | 11 | ||
| Epilepsy | Significantly reduced | 15/18 | 83 | |
| Seizure-free status | 11/18 | 73 | ||
| No improvement | 3/18 | 16 | ||
| Uridine monophosphate | 2/18 | 11 | ||
| Received TAU | 1/18 | 5 | ||
| SE | Seizure-free | 7/18 | 38 | |
| Residual seizures | 4/18 | 22 | ||
| Anaemia | Correction | 15/18 | 83 | |
Abbreviations: SE Status epilepticus, MRI Magnetic resonance imaging, EEG electroencephalography, GTCS Generalized tonic-clonic seizures, TAU uridine triacetate