The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.

Chronic recurrent multifocal osteomyelitis: a first report from Saudi Arabia

Chronic recurrent multifocal osteomyelitis [CRMO] is a rare, systemic, aseptic, inflammatory disorder that involves different sites. Pathogenesis of chronic recurrent multifocal osteomyelitis is currently unknown. To our knowledge, there are no reports of CRMO from Saudi Arabia. We describe the clinical and laboratory features and treatment of a cohort of children with CRMO. Retrospective, patients referred to pediatric rheumatology clinic at a tertiary care center in Riyadh, Saudi Arabia. The diagnosis of CRMO was based on evidence of recurrent osteomyelitis with radiographic evidence of chronic osteomyelitis involving at least two sites in the absence of infectious cause in a child less than 14 years old. Ten patients [9 female, 1 male] with CRMO; 2 patients presented in infancy. The referral diagnosis was inaccurate in all patients. All of them presented with pain and 8 of them had associated swelling and were found to have multifocal lesions. Imaging studies showed findings consistent with chronic osteomyelitis. Histopathological and microbiological examination confirmed the diagnosis in 9 patients. Cyclic pamidronate infusions induced good improvement in 6 patients. This report indicates that CRMO may be overlooked in our community. Early diagnosis and treatment are required to avoid potential complications.