Table 2 Genotype-Phenotype comparison between the two patients of our study
PATIENTS | N°1 | N°2 |
|---|---|---|
SEX | F | F |
CURRENT AGE | 37 years | 33 years |
TYPE OF ONSET | NEUROLOGICAL | HEPATIC |
GENOTYPE | c.3207C- > A(p.H1069Q) / c.3904-2A- > G | c.3207C- > A(p.H1069Q) / c.3904-2A- > G |
AGE OF ONSET AND DIAGNOSIS | 11 years | 10 years |
PHYSICAL EXAMINATION (ONSET) | Tremors with difficulty in writing, motor incoordination, speech and poor scholastic performances | Hepatomegaly, latent jaundice |
BLOOD TESTS (ONSET) | Low ceruloplasmin and copper, anemia, thrombocytopenia, low WBC e RBC, no hypertransaminasemia (see Table 1) | Low ceruloplasmin and copper, hypertransaminasemia, hypercholesterolemia (see Table 1) |
EYE EXAMINATION (ONSET) | KF rings in both eyes | No KF rings |
ABDOMINAL US (ONSET) | Normal liver. Spleen increased in volume, with homogeneous parenchyma and vessel dilatation. | Liver normal in shape and size, with homogenous hyperechogenic parenchyma. Normal spleen. |
BRAIN MRI (ONSET) | Hyperintensity of the basal ganglia, especially the lenticular nuclei and the putamen | Normal |
LEIPZIG SCORE | 11 | 7 |
BLOOD TESTS (PRESENT DAYS) | Thrombocytopenia, low cholinesterase (see Table 1) | Hypertransaminasemia, Hypertriglyceridemia (see Table 1) |
ABDOMINAL US (PRESENT DAYS) | Liver echostructure severely inhomogeneous (cirrhosis). Signs of portal hypertension, voluminous collateral circulation, splenomegaly. | Liver with dimensions slightly larger than normal. Echostructure homogeneous without focal alterations. |
BRAIN MRI (PRESENT DAYS) | Persistent hyperintensity of the basal ganglia | Normal |
CLINICAL SITUATION | Portal systemic encephalopathy | Liver parenchyma hyperecogeniticy |