The 14-year-old female patient has been treated for anemia for 12 years and intermittent convulsions for 11 years. The child was delivered by cesarean section in 39 weeks gestation due to intrauterine distress, birth weight: 2850 g (-1SD). She was G3P1, G1 and G2 were aborted, both parents were healthy. At 6 months, the child could sit, stand at 12 months. At 15 months the child could walk with assistance and speak simple words at 24 months. After the age of two years, the child gradually develops language regression, is unable to speak, and can only understand simple instructions. Family history was negative on hereditary and congenital diseases. At the age of 2, the child was admitted to the hospital with a respiratory tract infection and convulsions. She was discovered to be anemic (hemoglobin 42 g/L, reference range 110–160), with poor psychomotor development, no obvious signs of skin or mucosal bleeding, no vomiting, and transient convulsive episodes following crying and fussing. Aspiration of bone marrow revealed active bone marrow proliferation, with a significantly elevated granulocyte-to-red blood cell ratio, active granulocyte proliferation, significantly decreased red lineage proliferation, and significantly increased giant lineage proliferation. Biopsy of the bone marrow reveals active granulopoiesis with suppressed red lineage proliferation. MRI of the head: brain dysplasia, abnormal basal ganglia signal on both sides. The child was initially diagnosed with pure red blood cell aplastic anemia and was discharged after receiving high-dose intravenous gamma globulin therapy and support with red blood cell transfusion, with temporary improvement of anemia symptoms (hemoglobin 112 g/L), but the child's hemoglobin was not maintained. The hematologist suggested that the child receive cyclosporine therapy, but it did not work. The cause of the anemia could not be determined despite several bone marrow aspirations. The child still required monthly red blood cell transfusions to maintain near normal hemoglobin levels. Due to severe vision loss, the child was diagnosed with bilateral cataracts at the age of 6, treated with cataract ultrasound emulsion surgery, and cyclosporine therapy was discontinued. When the child was 6 years old, her convulsive episodes became more frequent, increasing from 3 to 4 per year to 1–2 per month, and her hematologist advised her to see an endocrinologist. Hypocalcemia (1.26 mmol/L, reference range 2.20–2.75), hyperphosphatemia (2.41 mmol/L, reference range 0.84–1.85), and hypoparathyroidism (0.53 pmol/L, reference range 1.58–6.83) were detected at the time of consultation. Cranial CT and 3D imaging revealed bilateral lateral ventricular fullness, reduced cerebral white matter, widened sulci, and cerebral hypoplasia. The basal ganglia region had bilateral symmetrical lamellar calcium and the skull bone plate had thickened. She was diagnosed with hypoparathyroidism and was given daily oral calcium (1.5 g/d) and calcitriol (0.5 ug/d) to keep her calcium and phosphorus levels stable. The child was free of convulsions after receiving regular calcium and calcitriol therapy, but he still had intermittent claudication and had suffered several unexpected fractures. Because the anemia did not improve, the child required monthly red blood cell transfusions, and her ferritin concentration increased and peaked at 3900 ng/ml (reference range 11–306.8 ng/ml). Concerned about the child's high ferritin level, as well as growth and metal retardation and a lack of sexual development, the patient's parents sought the advice of an endocrinologist and underwent a whole-exome gene sequencing test when she was 13.5 years old. 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 (). According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. The cause of the child's anemia did not support pure red blood cell aplastic anemia, and abnormal iron metabolism was clinically suspected, so we performed a bone marrow aspiration and a bone marrow iron staining test. The bone marrow test results indicated that the bone marrow was actively proliferating, with a significant increase in the ratio of granulocyte to red blood cell. The granulocyte lineage was actively proliferating, with cells of all stages visible, and the morphology was mostly normal, with visible eosinophils. The red lineage was hypoproliferative, with mid- to late-stage juvenile erythrocytes predominating, and the central bland area of mature erythrocytes was significantly enlarged. External iron staining was (+++)-(++++), internal iron staining was (-) 50%, (+) 8%, (++) 12%, (+++) 25%, (++++) 5%, and ring-shaped iron granulocytes were observed (). Platelets are seen scattered or in clusters as the giant lineage proliferates. Since the child's intellectual and motor development, as well as his sexual development, were severely delayed, we performed an MRI of the head and pituitary gland. According to head MRI + DWI + MRS, the space outside the frontotemporal region on both sides widened, the anterior interhemispheric fissure widened, the ventricles enlarged on both sides, and white matter in the brain decreased. Strips with slightly higher signal intensity were seen on T2-FLAIR near the ventricle posterior horns on both sides, but no obvious signs were seen in the rest of the brain. MRS: NAA/Cr was 3.879 in the right basal ganglia, and Cho/Cr was 2.14, showing mildly increased lactate peak. (). The pituitary gland is oblate and slightly small, with a height of about 2.60 mm, no restrictive elevation, uniform pituitary signal, and a high signal of the posterior pituitary lobe; the pituitary stalk is visible, not significantly widened, and centrally located. There was no significant abnormality in the visual cross section or the cavernous sinuses bilaterally. The patient's MRI and brain CT scan findings of brain and pituitary abnormalities was all showed in. The child was diagnosed with an IARS2-related diseases characterized by hypoparathyroidism and sideroblastic anemia based on the results of genetic testing and bone marrow iron staining. Autosomal recessive variants of the IARS2 gene are associated with the development of cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, CAGSSS (OMIM: 612801) (). However, this child's clinical phenotype is not identical to previous reports and has a few distinguishing characteristics. The laboratory findings in this child are summarized in. After being diagnosed with IARS2-related mitochondrial disease, the child was given mitochondrial cocktail therapy to help improve the patient's disease presentation and organ function. Coenzyme Q10 (10 mg/kg.d) and vitamin B2 (100 mg/d) promote mitochondrial energy production while also acting as antioxidants to prevent the buildup of harmful free radicals. Vitamin E (10 mg/d) is used as an antioxidant. L-Carnitine (2 g/d) aids in the transport of fatty acids and improves muscle strength and tone. To treat sideroblastic anemia, vitamin B6 (90 mg/d) was given to increase ALA (Aminolevulinic acid) synthase activity, iron utilization, and hemoglobin synthesis. Iron chelating agents were thought to aid iron excretion by reducing iron overload, and the child was eventually treated with deferiprone due to a suspected allergy to Desirox-500 (severe skin rash). Until now, the child had been receiving daily oral deferiprone tab (1500 mg/d), and while ferritin levels had not returned to normal, they were significantly lower than before treatment (from 3900 ng/ml to 2487 ng/ml, reference range 11–306.8). Because of the lack of significant improvement in sideroblastic anemia after three months of treatment, vitamin B6 was discontinued. At a later follow-up, we discovered that after a combination of therapies, including mitochondrial cocktail, calcitriol, calcium supplements, and behavioral and dietary instruction. Without a return of convulsions, her cognitive performance marginally improved, and she had more energy than previously. However, her motor function continued to deteriorate, she continued to experience periodic claudication, and she even experienced a fall-related face injury. Electromyography and Nerve Conduction Velocity (EMG/NCV) testing revealed no significant electromyographic changes associated with myogenic damage and motor and sensory nerve conduction velocity and amplitude normal range. The bilateral hip joints had a minor amount of fluid, but there were no indications of bone destruction, according to an MRI. It is impossible to determine whether the child is experiencing pain or vertigo because she is unable to properly convey his feelings. Timeline of disease progression are showed in the.