Farid Mohamed I, Baz Azza, Hemdan Mohamed Emad El-Dein, Abdelhamid Taghreed, Ebrahim Diyaa, Fayed Fadl, Abdel-Haleem Emad
General Surgery Department, Zagazig University, Zagazig, Egypt.
General Surgery Department, Al-Ahrar Teaching Hospital, Zagazig, Egypt.
Eur J Case Rep Intern Med. 2024 Aug 19;11(9):004738. doi: 10.12890/2024_004738. eCollection 2024.
Osteogenesis imperfecta (OI) is a genetic connective tissue disease defined by the loss of bone mass and density, which makes the bones more brittle and more likely to fracture over time. Bone deformity and articular instability are the subsequent symptoms.
This 25-year-old man had malformed lower limbs and trouble walking due to OI and dwarfism. He arrived complaining of fever, nausea, vomiting and diffuse peri-umbilical pain. During ultrasonography a blinded, oedematous lobe formation containing an appendicolith was discovered. Acute suppurative appendicitis was diagnosed, necessitating a laparoscopic appendectomy. Because the patient had previously undergone general anaesthesia, anaesthesia was thought to be attainable. Pneumoperitoneum and a 10 mm optical port inserted into the umbilicus were used in the surgical procedure. A diagnostic laparoscopy revealed faecolith obstruction and an acute suppurative appendicitis. After an hour, a laparoscopic appendectomy was performed effectively with little blood loss. Without experiencing any difficulties because of the surgery position, the patient was discharged.
We present a case of an OI dwarf patient with acute suppurative appendicitis. It highlights the possibility of performing laparoscopic surgery in general and a laparoscopic appendectomy in particular on OI patients.
In rare instances involving OI, laparoscopic surgery in general and laparoscopic appendectomy in particular are practical and efficient options.
成骨不全症（OI）是一种遗传性结缔组织疾病，其特征是骨量和骨密度降低，随着时间的推移，骨骼会变得更加脆弱，更容易骨折。随后会出现骨骼畸形和关节不稳定等症状。
这名25岁男性因成骨不全症和侏儒症导致下肢畸形且行走困难。他前来就诊时主诉发热、恶心、呕吐及脐周弥漫性疼痛。超声检查发现一个含有阑尾结石的盲端、水肿性叶状结构。诊断为急性化脓性阑尾炎，需行腹腔镜阑尾切除术。由于该患者此前曾接受过全身麻醉，认为可以实施麻醉。手术过程中采用气腹并在脐部插入一个10毫米的光学端口。诊断性腹腔镜检查发现粪石梗阻及急性化脓性阑尾炎。一小时后，顺利进行了腹腔镜阑尾切除术，出血很少。患者未因手术体位而遇到任何困难，随后出院。
我们报告一例患有急性化脓性阑尾炎的成骨不全症侏儒患者。这凸显了对成骨不全症患者进行一般腹腔镜手术尤其是腹腔镜阑尾切除术的可能性。
在涉及成骨不全症的罕见病例中，一般腹腔镜手术尤其是腹腔镜阑尾切除术是切实可行且有效的选择。
