Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis

Sahin N., Cicek S. O., PAÇ KISAARSLAN A., Gunduz Z., POYRAZOĞLU M. H., Dusunsel R.

TURKISH JOURNAL OF PEDIATRICS, vol.63, no.2, pp.323-328, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 2
  • Publication Date: 2021
  • Doi Number: 10.24953/turkjped.2021.02.018
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.323-328
  • Keywords: Blau syndrome, early-onset sarcoidosis, encephalopathy, sarcoidosis, PEDIATRIC GRANULOMATOUS ARTHRITIS, BLAU-SYNDROME, CARD15 MUTATIONS, NOD2, PHENOTYPE, SUSCEPTIBILITY, AUTOIMMUNE, DIAGNOSIS
  • Kocaeli University Affiliated: No

Abstract

Background. Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding the nucleotide-binding domain of the nucleotide-binding oligomerization domain-containing 2 gene. Blau syndrome and early-onset sarcoidosis are familial and sporadic forms of the same disease and are very rare. Many organ systems may be involved; however, neurologic involvement is infrequent. We reported a case of encephalitis in a 12-year-old girl followed with a diagnosis of early-onset sarcoidosis.