Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

J Neuroimmunol. 2022 Aug 15:369:577917. doi: 10.1016/j.jneuroim.2022.577917. Epub 2022 Jun 12.

Abstract

The authors describe a 5-year-old girl who developed a Noonan syndrome-like disorder as a result of the CBL c.1194C>G/p.His398Gln variant, including headache, papilledema, intracranial hypertension, hyperproteinorrhachia, leucorrhachia, and brain inflammation and vasculitis with CD3 positive lymphocyte infiltration. The patient responded partially to corticosteroids, acetazolamide, and ventriculoperitoneal valve placement. The serum cytokine profile revealed persistently elevated levels of IL-1 RA, IL-2R alpha, IL-6, IL-18, MCP-1, and MCP-3. Cyclophosphamide was used as a bridge to allogeneic hematopoietic stem cell transplantation in this case.

Keywords: Case report; Cerebral vasculitis; Cyclophosphamide; Cytokines; HSCT; Noonan syndrome; cbl syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Brain / diagnostic imaging
  • Child, Preschool
  • Cyclophosphamide
  • Female
  • Humans
  • Noonan Syndrome* / complications
  • Noonan Syndrome* / genetics
  • Vasculitis, Central Nervous System*

Substances

  • Cyclophosphamide