SPR Unknown # 96 -- FINAL

Jeffrey L. Koning MD

University of California San Diego Department of Radiology

John Naheedy MD

Rady Children's Hospital Department of Radiology

Jerry Dwek MD

Rady Children's Hospital Department of Radiology


Publication Date: 2013-09-13

History

Not moving left leg, flexion contracture at the knee. Other past medical history includes hyperbilirubinemia at birth, autoimmune hepatitis, sensorineural hearing loss and global developmental delay.

Findings

Femur radiographs at 1 y 2 mo old: background of osteopenia with flaring of the metaphyses and fragmentation of the distal femoral epiphysis. The proximal femoral epiphysis and physis and proximal tibial epiphysis and physis are normal.

Femur radiographs at 2 y 1 mo old: continued overgrowth of the left distal femoral epiphysis and progression of metaphyseal flaring, now with a fragmented stippled type of calcification seen in the epiphysis and severe fraying of the spherical growth plate. The proximal tibial epiphysis and physis again appear normal.

Femur radiographs at 3 y 4 mo old: continued progression of left distal femoral metaphyseal flaring and cupping, now sever. The zone of provisional calcification is indistinct and there are multiple curvilinear sclerotic areas of “rings and arcs” type of calcification, consistent with chondroid matrix, likely reflecting severe enchondral bony overgrowth of the physis. Again, the remainder of the visualized physes on these images are normal, including the proximal tibial and fibular physes as well as the growth plates surrounding the left hip.

Diagnosis

Neonatal Onset Multisystem Inflammatory Disease (NOMID)

Discussion

Neonatal Onset Multisystem Inflammatory Disease (NOMID) was first described by Prier and Griscelli in 1987 and has also been referred to as chronic infantile neurologic, cutaneous and articular syndrome (CINCA). It is a rare genetic disorder on the spectrum of cryopyrin associated periodic syndromes (CAPS). NOMID is associated with mutations in the NLRP3 gene in 60% of patients, which was confirmed in our case. According to the NIH, approximately 100 affected patients have been reported worldwide. Other CAPS entities include familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), of which NOMID is the most severe.

The clinical manifestations of NOMID include a maculopapular skin rash which is hive-like in 100% of patients. Seventy-Five percent of patients have the rash at birth. Over a time course of months the disease progresses to include intermittent fevers, generalized lymphadenopathy, anemia, leukocytosis, hepatosplenomegaly, painful arthropathy, and failure to thrive. While the articular findings are often the most striking, as in our case, other manifestations include chronic aseptic meningitis, macrocephaly, developmental delay, hearing loss, and ocular pathology including uveitis and conjunctivitis

Files

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