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Published on: August 15, 2019
Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report
Pan Hong1, Xiaolong Zhao2, Ruikang Liu3
1Department of Orthopaedic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Insights
This case report highlights a rare association between Osteogenesis Imperfecta (OI), a genetic disorder affecting collagen, and Perthes disease, a hip condition in children. The study suggests a potential link, enriching understanding of both conditions.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Etiology of Perthes disease remains unclear despite known genetic factors.
- Presents a rare case of Perthes disease in a child with Osteogenesis Imperfecta (OI).
- OI caused by a COL1A1 gene mutation (NM_000088:exon25:c.1726C>T, p.Gln576X).
Observation:
- A 7-year-old boy diagnosed with Perthes disease underwent surgical treatment.
- Follow-up showed good hip function, but later experienced a femoral shaft fracture.
- Subsequent genetic testing confirmed Osteogenesis Imperfecta (OMIM 166200).
Findings:
- The patient presented with symptoms of both Perthes disease and Osteogenesis Imperfecta.
- Successful surgical management for both conditions was performed.
- Genetic analysis identified a specific COL1A1 mutation linked to OI.
Implications:
- Suggests a potential association between Osteogenesis Imperfecta and Perthes disease.
- Expands the known phenotypic spectrum of Osteogenesis Imperfecta.
- Offers insights into the pathogenesis of Legg-Calvé-Perthes disease (LCPD).
Abstract:
Background: Although certain genetic components have been reported as contributing factors for Perthes disease, its etiology remains unclear. We present a rare case of Perthes disease in a child with osteogenesis imperfecta (OI) caused by a mutation in the COL1A1 gene (NM_000088):exon25:c.1726C>T, (p.Gln576X). Case presentations: A 7-year-old boy was initially treated at our medical facility in March 2016 with a history of chronic pain in right hip joint and limping for a year. He was diagnosed as Perthes disease in the right hip joint. He underwent acetabular osteotomy and ipsilateral proximal femoral varus osteotomy for better containment. During the follow-ups, the right hip demonstrated a normal range of motion without pain, and the pelvic X-ray demonstrated Stulberg Type II hip joint with a round femoral head. In the latest admission in 2022, he suffered from a right femoral shaft fracture after petty violence. After reviewing his medical history, he was suspected of having OI. The whole exome sequencing demonstrated a gene mutation in COL1A1 (OMIM 166200) and confirmed the diagnosis of OI. Telescopic nailing was used to treat the femoral shaft fracture. After the nailing of the right femur, the appearance of the lower extremity seemed normal and symmetrical. Conclusion: This study revealed that there might be an association between OI and Perthes disease. Our case report enriches the phenotypes of osteogenesis imperfecta and provides insight into the pathogenesis of LCPD.
