Case of Auto inflammatory Syndrome

Dr.Mehak Dr Suma Balan Dr Jayakumar

Department of Pediatrics and Pediatric rheumatology,

Amrita institute of medical sciences , kochi

Fourteen year old male boy asymptomatic till six years of age presented with sudden onset high grade fever Tmax 103F with cough and runny nose. Other historical points suggestive of system involvement was negative
Xray Chest was suggestive of LRTI and he was treated with IV antibiotics.
Two-three months after this episode, he developed high grade intermittent fever lasting for 1 hour and occurring in the early morning or evening hours on a daily to alternate day basis for a week for which he was treated on an OPD basis.
At 7 years of age, he had similar fever spikes again occurring every alternate day every other week during a span of 5-6 months and associated with left knee pain but with out any limping
After evaluation he was started on Naproxen which he took for 1 month after which he was symptom free for 2 years.
At 9 years old, he again developed similar episodes of fever but with bilateral knee pain this time.
This time he didn’t respond to Naproxen and hence changed to Colchicine
At 12 years old, there was recurrence of his symptoms but with severe bilateral knee pain involvement with the child unable to walk this time. Child was thus started on oral steroids which he took for 2 years until he developed hip and shoulder pain and MRI taken at this time of Pelvis, Spine and Shoulder showing osseous insufficiency and steroids were stopped.
There was no history of any other systemic involvement.
Clinical examination was normal during these episodes except for tenderness over the involved joints.

Differentials considered
Systemic JIA
Sarcoidosis
Tuberculosis
Inflammatory bowel disease Arthritis
Malignancy-Lymphomas,
Leukemias
Autoinflammatory Syndromes

Child has been extensively evaluated over the years.
During episodes of fever, blood counts were normal with elevated CRP and ESR. GeneXpert was negative.
MRI and CT knee were normal.
FNAC of cervical and axillary lymph nodes were also normal.
Colonoscopy and OGDscopy were normal. Bone marrow biopsy is also normal.
2D Echo was also normal.
PET MRI showed FDG avidity in periarticular regions of bilateral shoulder, hips and right wrist joints.

Child is thus being managed as case of autoinflammatory syndrome and the plan is to escalate treatment to biologics like Tocilizumab.

Periodic Fever Syndromes consists of a family of disorders characterised activation of the inflammatory pathway even in the absence of antigen directed immunity.Patients classically present with recurrent episodes of fever with associated symptoms due to inflammation of eyes, joints, skin or serosal surfaces with no symptoms between the episodes.
Periodic Fever Syndrome should be a diagnosis after exclusion of other infectious as well as non infectious conditions. Inflammasomes which activate IL-1 and IL-18 are the primary culprits in the pathogenesis of these syndromes. Treatment involves blocking the inflammatory pathways which could be through steroids or biologics to inhibit the various cytokines involved in the pathogenesis. The various subtypes of Periodic Fever Syndrome are
Hereditary Syndromes like Familial Mediterranean Fever,
TNF Receptor 1 Associated Periodic Syndrome,
Hyperimmunoglobulin D Syndrome,
Muckle Wells Syndrome,
Crypopyrin Associated Periodic Fever Syndrome
Non Hereditary Syndromes like Castleman’s Disease,
Cyclic Neutropenia and PFAPA Syndrome(Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis).

Carry Home Message

Periodic Fever Syndrome is a diagnosis of exclusion and should only be considered after excluding all possible infectious and non-infectious etiologies. Long term follow ups and repeated evaluations form the mainstay of management in these patients.

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