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Título

Tumour Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS) in two hypotonic siblings with axonal polyneuropathy and recurrent abdominal pain

RESUMO

Case report: Two siblings, a 10-years-old girl and a 7-years-old boy, hypotonic since birth with delayed motor milestones. Gait was unbalanced with frequent falls wich aggravated after yellow fever vaccination. Family complained of progressive worsening of ambulation. Both had recurrent episodes of vomiting and abdominal pain associated with bloody diarrhea. Fever without known source occured frequently. Both complained of chronic burning pain in lower limbs. During neurological examination both had signs of a symmetrical sensory motor polyneuropathy with areflexia, ataxic gait intensified when closing eyes and global hypotonia. C-reactive protein and erythrocyte sedimentation ratio were highly elevated. MRI was unremarkable. Electroneuromyography depicted a chronic axonal symmetrical distal sensory motor polyneuropathy. Whole exome sequencing showed a heterozygous variant in the TNFRSF1A gene, confirming the diagnosis of Tumour Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS). Canakinumab was initiated with complete resolution of the gastrointestinal symptoms, lower limb pain and marked improvement in gait. Discussion: TRAPS is an autossomal dominant autoinflmmatory syndrome caused by variants in the TNFRS1A gene. Recurrent episodes of periodic fever, myalgia, arthralgia, abdominal pain, periorbital edema and migratory rashes are well known features. Episodes occur either spontaneously of following a trigger. The neurological manifestation still need further characterization. Headache, aseptic meningitis, myositis and neuropathy are described but hypotonia and delayed motor milestones has never been reported to our knowledge. Inflammatory biomarkers are often elevated. Electroneuromyography should be ordered in all cases to better distinguish the features of myopathy and neuropathy that may be present in this group. Early diagnosis is essential since patients experience significant improvement with treatment. The knowledge and early recognition is needed for a better depiction of the neurological manifestations. Final comments: TRAPS is an autossomal dominant hereditary autoinflammatory syndrome, associated with an expanding neurological picture in the literature. Our case shows two siblings with marked hypotonia, delayed motor milestones, axonal sensory motor polyneuropathy and a marked recovery after

Palavras Chave

TRAPS; Hypotonia; autoinflammatory syndrome; axonal polyneuropathy; periodic fever; abdominal pain