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Hydrocephalus in CINCA syndrome treated with anakinra

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Abstract

Introduction

Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a rare congenital autoinflammatory disease characterized by neonatal-onset chronic meningitis, hydrocephalus, sensorineural hearing loss, persistent urticarial rash, deforming arthritis, and recurrent fever. This clinical entity is believed to result from dysregulation of cytokine production. No recommended treatment protocol exists so far for CINCA syndrome.

Case report

We report a 7-year-old child affected with CINCA syndrome in whom no therapy had resulted effective. Anakinra, an interleukin-1-receptor antagonist, was administered in a 1-year period with complete inflammatory symptom remission and dramatically ameliorated laboratory tests. This optimal response has been supported by the demonstration of a stabilized hydrocephalus upon magnetic resonance imaging and by an overall improvement of the neurodevelopmental issues.

Discussion

This paper emphasizes and discusses the medical approach with anakinra in CINCA syndrome presenting with hydrocephalus in which a consistent control of the neurological picture can be obtained.

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Acknowledgement

The authors wish to thank W. Agostinelli from the Institute of Radiotherapy in Catholic University Medical School of Rome for the MRI photographic work performed.

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Authors and Affiliations

  1. Centre of Periodic Fevers, Dipartimento di Scienze Pediatriche Medico-Chirurgiche e Neuroscienze dello Sviluppo, Catholic University Medical School, Policlinico “A. Gemelli”, Largo A. Gemelli, 8, 00168, Rome, Italy

    D. Rigante, V. Ansuini, B. Bertoni, I. La Torraca & A. Stabile

  2. Institute of Pediatric Neurosurgery, Dipartimento di Scienze Pediatriche Medico-Chirurgiche e Neuroscienze dello Sviluppo, Catholic University Medical School, Rome, Italy

    M. Caldarelli

Authors
  1. D. Rigante
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  2. V. Ansuini
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  3. M. Caldarelli
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  4. B. Bertoni
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  5. I. La Torraca
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  6. A. Stabile
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Corresponding author

Correspondence to D. Rigante.

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Rigante, D., Ansuini, V., Caldarelli, M. et al. Hydrocephalus in CINCA syndrome treated with anakinra. Childs Nerv Syst 22, 334–337 (2006). https://doi.org/10.1007/s00381-006-1280-3

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  • DOI: https://doi.org/10.1007/s00381-006-1280-3

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