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Table 3 Radiological findings at diagnosis in clinically-detected and screen-detected patients with type 1 tyrosinemia

From: Type 1 tyrosinemia in Finland: a nationwide study

  Clinically-detected, n = 17 Screen-detected, n = 4 P value
n % n %
Hepatic nodules 17 100 2 50.0 0.029
Rickets 11 64.7 1 25.0 0.272
Hepatomegaly 10 58.8 1 25.0 0.311
Renomegaly 10 58.8 1 25.0 0.311
Ascites 9 52.9 0 0 0.104
Splenomegaly 6 35.3 0 0 0.281
CNS findings 3a 21.4 0 0 0.999
Cardiac findings 2b 13.3 0 0 0.999
No findings 0 0 1 25.0 0.190
  1. The conducted imaging studies included wrist X-ray, abdominal, cardiac and cranial ultrasound and liver and brain magnetic resonance imaging or computer tomography. Cardiac ultrasound was available for 19 patients, Central nervous system (CNS) imaging was done for 16 patients and the other imaging studies for all 21 patients
  2. aTwo cases with resolving cerebral atrophy and one craniopharyngioma
  3. bOne mild mitral regurgitation and one atrium septum defect