Fig. 1: Hematological and neuroradiological investigations. | European Journal of Human Genetics

Fig. 1: Hematological and neuroradiological investigations.

From: Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

Fig. 1

A, B Both siblings developed macrocytic anemia (B-MCV > 86) with worsening during episodes of infections associated with levels of reticulocytes in the lower part of the normal level range suggestive of impaired erythropoiesis. In patient II:8, the baseline hemoglobin level tended to decrease over time. B-Hb = Blood-Hemoglobin, B-MCV = Blood-Mean Corpuscular Volume. Normal range of B-Hb, B-MCV and reticulocytes are given within parenthesis. C–F CT of the brain in patient II:7 at 8 months of age showing reduced attenuation of the entire supratentorial gray matter, compressed lateral ventricles and flattened extracerebral CSF spaces compatible with edema, loss of gray and white matter differentiation suggestive of ischemia and herniation (E, F) through the tentorium and foramen magnum. G–I In patient II:8 MRI of the brain at 8 months of age showed symmetrically increased T2 signal in thalamus, globus pallidus and in patchy cortical/subcortical fronto-parietal, paramedian and occipital areas.

Back to article page