Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait
Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait.
BMJ Case Rep. 2021 May 19;14(5):e242498. doi: 10.1136/bcr-2021-242498.
Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in is the most severe form of osteopetrosis. Children with this phenotype exhibit multisystemic complications, of which the neuropathic manifestations are the most severe. Infants with MIOP may present with pain and irritability that are likely to become continuous and debilitating as the disease progresses. There is limited understanding of the aetiology and management of pain in MIOP. Here, we describe a 2 month-old infant with mutation-related MIOP presenting with severe irritability and pain. This case provides the opportunity to discuss the cause and management of these distressing symptoms. We also review similar cases and the possible underlying mechanisms of pain and irritability to help provide a conceptual framework for the management of these symptoms in infants with MIOP.
成骨不全症描述了一组异质性疾病，其特征是由于破骨细胞功能受损导致骨密度增加。由 基因突变引起的恶性婴儿常染色体隐性（MIOP）形式是成骨不全症中最严重的形式。具有这种表型的儿童表现出多系统并发症，其中神经病变表现最为严重。患有 MIOP 的婴儿可能会出现疼痛和烦躁，随着疾病的进展，这些症状可能会持续存在并使人虚弱。目前对于 MIOP 中的疼痛的病因和治疗方法了解有限。在这里，我们描述了一例 2 个月大的婴儿，其患有与 突变相关的 MIOP，表现为严重的烦躁不安和疼痛。该病例提供了一个机会来讨论这些痛苦症状的原因和管理。我们还回顾了类似的病例以及疼痛和烦躁的可能潜在机制，以帮助为 MIOP 婴儿这些症状的管理提供一个概念框架。
