Background
A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA.
Case presentation
An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister.
Conclusions
Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases.
Neuroendocrine cell hyperplasia of infancy (NEHI) is a recently reported condition and commonly missed. A general pediatrician who encounters an infant with an insidious onset of breathlessness, hypoxemia, and failure to thrive should think through a diagnosis of NEHI when common respiratory diseases are excluded. Lung biopsy is regarded as the diagnostic gold standard for NEHI and typically demonstrates increased numbers of neuroendocrine cells (NECs) in otherwise near-normal lung tissues. However, classic high-resolution computed tomography (HRCT) findings can enable to establish the diagnosis without the need for a biopsy. This case shows typical chest imaging findings of NEHI with a brief review of the literature.
Avascular necrosis (AVN) of the femoral head following slipped capital femoral epiphysis (SCFE) is a serious complication that often leads to a permanent disability. Radiological findings of AVN may take up to two years to become apparent. This means painful waiting for children, parents, and treating teams. We would like to describe a new radiological sign that we noted in four patients. The sign has been named as the crescent moon sign or eid crescent sign. It may become visible as early as six weeks following surgery, and it carries a good prognosis that the femoral head is viable and will not develop AVN. Two out of the four patients were treated in our hospital by Ganz surgical dislocation. The other two patients had been featured in other publications, but the significance of the moon crescent signs, which were present, was not recognized or appreciated. All four patients did not develop AVN. A relatively similar radiological sign has been described in talus bone fractures (Hawkins' sign). Like SCFE, talus bone fractures have a high AVN rate. Both, the crescent moon sign and Hawkins' sign carry a good prognosis and indicate that the bone blood supply is restored.
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