Table 2.
Compares the features of the case described here with the four siblings (patients 1–4) previously described by Galmiche et al. in 2011
| Case 1 | Case 2 | Case 3 | Case 4 | Current case | |
|---|---|---|---|---|---|
| HCM age at diagnosis | 11 months | 12 months | 9 months | 9 months | 8 months |
| Hepatomegaly | + | + | + | ||
| Elevated liver enzymes | + | + | + | + | |
| Lactic acidosis | + | + | + | + | + |
| FTT | + | + | + | ++ | + |
| SNHL | + (cochlear implant) | ||||
| MRI/MRSbrain | Not reported | Not reported | Cortical hypergyria | Cortical hypergyria | Lactate peak |
| MRPL3 genotype | c.950>G (Pro317Arg) 255 kbp contiguous gene deletion |
c.950>G (Pro317Arg) 255 kbp contiguous gene deletion |
c.950>G (Pro317Arg) 255 kbp contiguous gene deletion |
c.950>G (Pro317Arg) 255 kbp contiguous gene deletion |
c.950>G (Pro317Arg) c.49delC p.(Arg17Aspfs*57) |
| MRC studies | Decreased complex I, IV, V | Decreased complex I, IV, V | Decreased complex I, IV | Decreased complex I, IV, V | Not performed |
| Outcome | Cardiac death at 17 months | Cardiac death at 15 months | Alive at 3 years, stable cardiomyopathy, failure to thrive, psychomotor retardation | Alive at 3 years, stable cardiomyopathy, severe failure to thrive, psychomotor retardation | Cardiac death at 11 months. Cirrhosis and interstitial nephritis |
| Additional findings at autopsy | Hepatic cirrhosis Interstitial nephritis |
HCM hypertrophic cardiomyopathy, FTT failure to thrive, SNHL sensorineural hearing loss, MRI magnetic resonance imaging, MRS magnetic resonance spectroscopy, MRC mitochondrial respiratory chain, + present