Managing challenging pain and irritability inOSTM1mutation-related infantile malignant osteopetrosis

Abstract

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 OSTM1 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 OSTM1 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 OSTM1 MIOP.

The clinical features of OSTM1‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade

“…It is plausible that feeding difficulties arise due to neurodegeneration of the swallowing apparatus, unlike our previous hypothesis that it is caused by an inability to breathe (Alotaibi & Dighe, 2021). In most patients reported in the literature, feeding difficulties present early (Herebian et al, 2017;Maranda et al, 2008;Overholt et al, 2017;Souraty et al, 2007).…”

“…The clinical features of 22 patients with OSTM1 MIOP are summarized in Table 1. Patient 21 was reported previously (Alotaibi & Dighe, 2021).…”

“…However, their pain behavior may have affected the accuracy of hypertonicity. For example, Patient 21 was diagnosed with limb hypertonia which improved when she received proper pain management and regained spontaneous movements (Alotaibi & Dighe, 2021).…”