Table 2 Characterization of hepatic and encephalopathic crises.
Hepatic crises | Encephalopathic crises | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient ID | Age at last visit (years) | Number of ALF episodes | Number of ELT episodes (without ALF) | Age at first/last (most severe) hepatic episode (years) | ASAT (µkat/L, max; ref. <0.72) | ALAT (µkat/L, max; ref. <0.84) | INR (max; ref. <1.2) or PT (max, ref. >15 seconds) | Total bilirubin (µmol/L, max; ref. <17c) | Albumin (g/L, min; ref. 36–50 g/L) | LDH (µkat/L, max; ref. range <6.95) | Glucose (mmol/L, min; ref. 3.3–6.1 mmol/l) | Ammonia (µmol/L, max; ref. <53) | Number of encephalopathic episodes | Age at first/last (most severe) encephalopathic episode (years) | Max grade of encephalopathy | Seizures during encephalopathic episodes | Brain imaging during encephalopathic episode | Encephalopathic episode always associated with elevated transaminases (Y/N) |
LARS1-01 | 12 | 3 | 5 | 1.1/10 (1.1) | 25.05 | 25.05 | INR 1.5 | 31 | 24 | 9.69 | 4.1 | 55 | 2 | 1.3/10 (10) | 4 | Concomitant seizures, status epilepticus | MRI: Edema of the left hemisphere, consistent with “stroke-like” lesions left hemisphere | Y |
LARS1-02 | 6 | 1 | 3 | 0.5/1.5 (0.5) | 125.25 | 35.77 | INR 2.5 | 24 | 28 | 26.47 | 2.8 | 52 | 0 | NA | NA | NA | NA | NA |
LARS1-03 | 8 | 1 | 7 | 0.7/8 (0.7) | 20.64 | 17.38 | INR 1.8 | 9 | 29 | 19.04 | 3.3 | 40 | 1 | 6/6 (6) | 4 | Status epilepticus | MRI: Symmetric T2-hyperintensity of basal ganglia, thalami, brainstem, mesencephalon, capsula interna et externa and hippocampi during acute encephalopathic episode. Resolution of those lesions on follow-up 14 months later. | Y |
LARS1-04 | 1.8b | 1 | 2 | 0.8/1.8b (1.8b) | 33.90 | 16.87 | PT 35.7 | 15 | 33 | 29.09 | m.d. | 40 | 2 | 0.8/1.8b (1.8b) | 4 | Concomitant seizures | Ultrasound: Swelling and inhomogeneous aspect of the thalamic nuclei. CT: Large hypodense area/edema above the tentorium, both in white and gray matter (basal ganglia); angiography: unremarkable. | Y |
LARS1-05 | 23 | 1 | 3 | 0.9/16 (0.9) | 2.32 | 3.74 | PT 19.1 | 6 | 22 | 8.13 | 3.4 | m.d. | 7 | 0.9/16 (0.9) | 4 | Concomitant seizures | CT: Abnormal white matter centrofrontal and demyelination in the parasagittal areas. MRI cerebrum: Demyelination in the parasagittal areas. | N |
LARS1-06 | 6 | 0 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA |
LARS1-07 | 8 | 0 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | NA | NA | NA | NA | NA |
LARS1-08 | 12 | 3 | 5 | 0.2/8 (1.3) | 61.32 | 18.15 | INR > 2.5d | 72 | 22.6 | 15.80 | 3.4 | 80 | 0 | NA | NA | NA | NA | NA |
LARS1-09 | 3 | 1 | 0 | 0.1a/0.1a (0.1a) | 3.04 | 1.70 | INR 4.5 | 217c | 18 | 12.59 | 1.61 | 339 | 2 | 0.3/0.8 (0.3) | 4 | Complex partial seizures during chronic state of encephalopathy | MRI (4 months): No abnormalities. MRI (23 months): Mild ventriculomegaly and mild residual prominence of the extracerebral spaces. | N |
LARS1-10 | 3 | 1 | 3 | 1/1.3/ 3 (1.3) | 265.53 | 82.45 | INR 3.1 | 59 | 19 | 182.36 | 2.8 | 150 | 2 | 1.3/3 (1.3) | 4 | Focal seizures, status epilepticus | MRI (1.3 years): Edema in mesencephalon, brainstem and thalamus. Restricted diffusion in hippocampi, thalami, left putamen, and occipital cortex. Leptomeningeal enhancement. Hemosiderin in the lateral ventricles during encephalopathy. MRI (2.4 years): signal enhancement cortically diffuse in all brain lobes, partly with ADC reduction; brain atrophy with slightly increasing width of the inner cerebrospinal fluid spaces; outer cerebrospinal fluid spaces are rather constant in width. | Y |
LARS1-11 | 1 | 0 | 1 | 1/1 (1) | 14.83 | 17.99 | INR 1.1 | 12.5 | 27 | 10.19 | 4.0 | 70 | 0 | NA | NA | NA | NA | NA |
LARS1-12 | 1 | 1 | 4 | 0.08/0.9 (0.9) | 5.04 | 2.69 | PT 20.5 seconds | 36 | 20 | m.d. | 3.8 | 56 | 0 | NA | NA | NA | NA | NA |
