Table 1 Summary of general information, clinical features, brain magnetic resonance imaging and biochemical examinations of five patients
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
General information and clinical features | |||||
Gender | Male | Female | Male | Male | Male |
Age of onset | 6 months | 21 months | 17 months | At birth | 10 months |
Current age | 4 years and 7 months | 6 years | 29 months | 8 months | 19 months |
Initial presentation | Nystagmus | regression | Episodes of dystonia | Paroxysmal dyskinesia | Diarrhea, eyes on the turn, myotonia of the lower limb |
Central Nervous System | Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Nystagmus (HP:0000639); Extrapyramidal dyskinesia (HP:0007308); Babinski sign (HP:0003487); Dystonia (HP:0001332) | Developmental regression (HP:0002376); Dysarthria (HP:0001260); Dystonia (HP:0001332) | Dystonia (HP:0001332) | Motor deterioration (HP:0002333) | Developmental regression (HP:0002376) |
Brain magnetic resonance imaging | |||||
Globus pallidus | + | + | + | + | + |
Putamen | + | + | – | + | + |
Caudate nucleus | + | + | – | + | + |
Brain stem | + | – | – | + | – |
Summary | Symmetric lesions of the basal ganglia (HP:0007039); Brain atrophy (HP:0012444) | Symmetric lesions of the basal ganglia (HP:0007039) | Symmetric lesions of the basal ganglia (HP:0007039) | Symmetric lesions of the basal ganglia (HP:0007039) | Symmetric lesions of the basal ganglia (HP:0007039) |
Biochemical examination | |||||
Plasma lactate (mmol/L) | 1.6- > 3.4 (0.5–2.2) | 1.68 (0.5–2.2) | 3.17- > 6.46 (0.5–2.2) | 11.41 (0.5–2.2) | 2.51 (0.5–2.2) |
Plasma pyruvate (umol/L) | 197–255 | Not performed | Not performed | Not performed | Not performed |
Acylcarnitine analysis (DBS) | Normal profile | Normal profile | Normal profile | Slight increase in C4OH | Normal profile |
Organic acid analysis | Increases in 2,3-dihydroxy-2- Methylbutyrate (0.0446) | Increases in 3-hydroxyisovaleric acid and 2,3-dihydroxy-2- Methylbutyrate (0.0445) | Increases in 2,3-dihydroxy-2- Methylbutyrate | Increases in 2,3-dihydroxy-2- Methylbutyrate | Increases in pyruvate |
Skin biopsy | Not performed | OCR:79%/78% (Glucose/Galactose medium) MRC enzyme activity measurement: no significance | OCR:56%/71% (Glucose/Galactose medium) MRC enzyme activity measurement: no significance | Not performed | Not performed |