PUMCH has meticulously preserved over four million medical records since its inception, which marked the beginning of modern medical record management in China. These medical records serve as practical “teaching materials” from real cases and contain valuable medical information from the past. Especially notable are the cases involving intractable and rare diseases, which profoundly reflect the relentless efforts of PUMCH's medical professionals in tackling these daunting challenges. On Rare Disease Day, it seems particularly appropriate to open the dusty pages of these records and review the first case of osteogenesis imperfecta.

The obstetrician immediately decided to do an X-ray examination.

To help diagnose the conditions, the Department of Radiology took all-round X-ray images of the newborn. To their surprise, they discovered multiple fractures all over the baby’s body. Old fractures were observed in several parts of the skull, indicating that the fractures had occurred in utero. Additionally, the skull was uncannily fragile, “as thin as a cicada’s wing”. Multiple old or recent fractures were also found in all extremities, ribs, and clavicles, along with various deformities. The X-ray images indicated the immense suffering this tiny baby had already endured before birth, evoking deep sympathy.

The question on everyone’s mind was “What exactly is this disease?” For PUMCH at that time, it was a condition that was “unseen” yet not entirely “unheard of”. The distinctive blue sclera, evidence of intrauterine fractures, and skeletal deformities all pointed to a single diagnosis: osteogenesis imperfecta (OI). This is an exceptionally rare genetic disorder affecting the skeletal system, caused by a defect, typically a mutation, in the genes that carry the instructions for making type I collagen. The field of OI diagnosis and treatment has seen significant breakthroughs with the advent of molecular biology and medical genetics, allowing for the identification of the pathogenic variant in nearly every patient. However, in the 1950s, this condition remained largely a mystery. Despite this, the Department of Obstetrics and Gynecology, in collaboration with the Department of Radiology at PUMCH, was still able to accurately identify the condition. This is the first recorded case of OI in the medical records of PUMCH and, based on information currently available, it is probably the first case in China as well*.

▲Excerpt of the X-ray diagnosis report

In hindsight, what this patient had was unfortunately the most critical subtype of OI, known as perinatal lethal, which tragically led to the infant’s death shortly after delivery. Despite this, we are heartened to report that significant advancements in treatment have been made. Our Department of Endocrinology at PUMCH has been at the forefront of exploring various therapeutic approaches for these delicate patients. We have seen promising outcomes from the administration of bisphosphonates and denosumab, along with other innovative medications, which have effectively enhanced bone density and decreased the risk of fractures, yielding positive therapeutic outcomes.

As a rare endocrinological disease, OI affects only 1 in 10,000 to 15,000 newborns. However, the susceptibility to repeated fractures from minimal trauma, progressive skeletal deformities, and short stature inflict excruciating pain on patients and their families. We hope that Rare Disease Day can draw widespread attention to OI patients and steer support and assistance to them, imbuing them with the warmth and kindness that everybody on earth deserves.

*Note: The case of OI that the School of Pediatrics, Harbin Medical University published in the “Chinese Journal of Pediatrics” in 1951 was diagnosed and treated in December 1950

Written by Li Naishi and Li Mei

Picture courtesy of the Department of Medical Records

Edited by Wang Jingxia

Translated by Liu Haiyan

Reviewed by Zhou Jingya and Wang Yao