Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis
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...
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Hacettepe University Institute of Child Health
2021-04-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/304 |
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| author | Nihal Şahin Sümeyra Özdemir Çiçek Ayşenur Paç Kısaarslan Zübeyde Gündüz Muammer Hakan Poyrazoğlu Ruhan Düşünsel |
| author_facet | Nihal Şahin Sümeyra Özdemir Çiçek Ayşenur Paç Kısaarslan Zübeyde Gündüz Muammer Hakan Poyrazoğlu Ruhan Düşünsel |
| author_sort | Nihal Şahin |
| collection | DOAJ |
| description |
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.
Case. The patient was diagnosed with juvenile idiopathic arthritis at 3 years of age. We considered druginduced sarcoidosis at 6 years of age with granulomatous inflammation of liver and kidney. Small joint involvement and camptodactyly developed during follow-up. M315T mutation was detected in the NOD2 gene supporting the diagnosis of early-onset sarcoidosis. The patient suffered from encephalopathy when she was under methotrexate, infliximab, and systemic steroid treatment at 12 years of age. Cerebrospinal fluid limbic encephalitis antibody panel was negative.
Conclusion. Encephalopathy is not common in Blau syndrome and early-onset sarcoidosis. The cause of encephalopathy in our patient was interpreted as autoimmune encephalitis.
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| format | Article |
| id | doaj-art-cb51fb27142040cfa2b7b4dd2b5ba5f0 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-cb51fb27142040cfa2b7b4dd2b5ba5f02025-08-20T02:01:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-04-0163210.24953/turkjped.2021.02.018Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosisNihal Şahin0Sümeyra Özdemir Çiçek1Ayşenur Paç Kısaarslan2Zübeyde Gündüz3Muammer Hakan Poyrazoğlu4Ruhan Düşünsel5Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri.Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri.Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri.Department of Pediatric Rheumatology, Acıbadem Hospital, Kayseri, Turkey.Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri.Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri. 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. Case. The patient was diagnosed with juvenile idiopathic arthritis at 3 years of age. We considered druginduced sarcoidosis at 6 years of age with granulomatous inflammation of liver and kidney. Small joint involvement and camptodactyly developed during follow-up. M315T mutation was detected in the NOD2 gene supporting the diagnosis of early-onset sarcoidosis. The patient suffered from encephalopathy when she was under methotrexate, infliximab, and systemic steroid treatment at 12 years of age. Cerebrospinal fluid limbic encephalitis antibody panel was negative. Conclusion. Encephalopathy is not common in Blau syndrome and early-onset sarcoidosis. The cause of encephalopathy in our patient was interpreted as autoimmune encephalitis. https://turkjpediatr.org/article/view/304Blau syndromeearly-onset sarcoidosisencephalopathysarcoidosis |
| spellingShingle | Nihal Şahin Sümeyra Özdemir Çiçek Ayşenur Paç Kısaarslan Zübeyde Gündüz Muammer Hakan Poyrazoğlu Ruhan Düşünsel Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis The Turkish Journal of Pediatrics Blau syndrome early-onset sarcoidosis encephalopathy sarcoidosis |
| title | Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis |
| title_full | Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis |
| title_fullStr | Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis |
| title_full_unstemmed | Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis |
| title_short | Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis |
| title_sort | unexpected condition in a rare disease encephalopathy in early onset sarcoidosis |
| topic | Blau syndrome early-onset sarcoidosis encephalopathy sarcoidosis |
| url | https://turkjpediatr.org/article/view/304 |
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