Malignant osteopetrosis in infants: A case report and literature review

doi:10.3969/j.issn.1004-583X.2025.08.010

Abstract

Abstract:

Objective To report a case of infantile malignant osteopetrosis presented with anemia and thrombocytopenia, and to summarize clinical manifestations and treatment options for it through literature review, thus expanding the gene mutation profiles of the TCIRG1 gene in infantile malignant osteopetrosis. Methods Through clinical examination, laboratory testing, and genetic sequencing, a case of infantile malignant osteopetrosis was diagnosed. The clinical manifestations and genetic mutation characteristics were analyzed, and relevant literatures were reviewed. Results This case occurred during infancy and was mainly characterized by anemia and thrombocytopenia. Genetic testing revealed a new mutation in the TCIRG1 gene. Based on literature review, the clinical manifestations of infantile malignant osteopetrosis were diverse, with a poor prognosis. Hematopoietic stem cell transplantation is currently the most effective treatment method. Conclusion This case enriches the spectrum of the TCIRG1 gene mutations, suggesting that clinical doctors should consider the possibility of malignant osteopetrosis in infants with unexplained anemia and thrombocytopenia. Hematopoietic stem cell transplantation is a key treatment for improving prognosis.

Key words: osteopetrosis, mutations in the TCIRG1 gene, clinical presentation, treatment

CLC Number:

R681

Zhao Wei, Xu Huijuan, Zhao Yanxia, Wang Lingzhen, Lu Yuan, Yang Jing. Malignant osteopetrosis in infants: A case report and literature review[J]. Clinical Focus, 2025, 40(8): 726-730.

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URL: https://www.lchc.cn/EN/10.3969/j.issn.1004-583X.2025.08.010

https://www.lchc.cn/EN/Y2025/V40/I8/726

Figures/Tables 9

Fig.1 Cranial manifestations of the infant

Fig.2 a.Chest CT: Increased bone density and local bone thickening changes in various components of the chest; b.Brain CT: Dilation of the supratentorial ventricular system, small patchy low-density shadows can be seen around the bilateral ventricles, with unclear boundaries; c.Brain MR: Bilateral frontal lobe volume is reduced, with wider sulci, and wider supratentorial ventricles. Sharp cerebellar tonsils and crowded foramen magnum are seen; d.DR: upright position of bilateral wrist joints: increased bone density in both radius, ulna, and hands, and changes in bone expansion in the distal radius and ulna;e.Pelvic DR upright position: Increased bone density in pelvic bones and bilateral femurs, with concentric changes in bilateral iliac wings.

Fig.3 Schematic diagram of TCIRG1 C.1114C>T in the infant

Fig.4 Schematic diagram of TCIRG1 C.1114C>T in the father of the infant

Fig.5 Schematic diagram of TCIRG1 C.1114C>T in the mother of the infant

Fig.6 Schematic diagram of TCIRG1 C.1297C>T in the infant

Fig.7 Schematic diagram of TCIRG1 C.1297C>T in the father of the infant

Fig.8 Schematic diagram of TCIRG1 C.1297C>T in the mother of the infant

Tab.1 Sources of genetic variations in the infant

基因(组)	遗传模式	染色体位置	转录本	变异命	人群频率	合子状态	ACMG分类	变异来源
TCIRG1	AR	Chr11:68045051	NM_006019.4	c.1114C>T(p.Q372^*)	-	杂合	致病变异Pathogenic	父亲(杂合)
TCIRG1	AR	Chr11:68047564	NM_006019.4	c.1297C>T(p.Q433^*)	<0.0001	杂合	致病变异Pathogenic	母亲(杂合)

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