PMC9871752_01
Genomic sequencing and bone marrow testing. Sequence electropherogram of part of exon of the IARS2 gene. left panel: IARS2: NM_018060.4:c.2450G > A (p.Arg817His), right panel: IARS2: NM_018060.4:c.2511del (p.Leu838Phefs*69). (A) Wright-Giemsa stained bone marrow aspirate smears: arrows (upper) denotes myelomonocytic cell, whereas arrow (lower) denote megakaryocytic cell. (B) Prussian-blue stained bone marrow: arrows indicate 3 of the numerous ringed sideroblasts seen.
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F1
In the subject's whole blood genomic DNA, two heterozygous IARS2 gene variants were identified: p.Arg817His from the subject's mother and p.Leu838Phefs*69 from the subject's father (Figure 1). External iron staining was (+++)-(++++), internal iron staining was (-) 50%, (+) 8%, (++) 12%, (+++) 25%, (++++) 5%, and ring-shaped iron granulocytes were observed (Figure 1).
The patient's MRI and brain CT scan findings of brain and pituitary abnormalities. (A) Brain MRI: axial T1, axial T2 FLAIR: On T2-FLAIR, a strip of marginally elevated signal may be observed near to the posterior horn of both ventricles (arrows), indicating enlargement of the two ventricles and shrinkage of the brain's white matter. (B) MRS: mildly increased lactate peak. (C) CT scan: basal ganglia calcifications. (D) Pituitary MRI: the pituitary gland was slightly tiny, measuring 2.60 mm in height, without constriction, with uniform pituitary signal, evident strong signal in the posterior pituitary lobe, and visible pituitary stalk.
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F2
MRS: NAA/Cr was 3.879 in the right basal ganglia, and Cho/Cr was 2.14, showing mildly increased lactate peak. (Figure 2). The patient's MRI and brain CT scan findings of brain and pituitary abnormalities was all showed in Figure 2.
Timeline of disease progression.
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F3
Timeline of disease progression are showed in the Figure 3.