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Perioperative anesthesia management in a patient with curry jones syndrome

Year 2023, Volume: 11 Issue: 2, 75 - 77, 31.07.2023
https://doi.org/10.21765/pprjournal.1259660

Abstract

Curry-Jones Sendromu (CJS), kraniyofasiyal malformasyonlar, polisindaktili, yamalı deri lezyonları ,göz ve bağırsak anormallikleri ile karakterize nadir görülen bir hastalıktır. Curry Jones Sendromu SMO gen mutasyonuna bağlı olmaktadır. Biz vakamızda Curry Jones Sendrom tanılı çocuk hastaya planlanan operasyon için preoperatif anestezi yaklaşımından bahsettik.

References

  • 1. Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF. Mild case of Curry–Jones syndrome. Clinical Dysmorphology. 2006;15(2):115-7.
  • 2. Wigby K, Twigg SR, Broderick R, Davenport KP, Wilkie AO, Bickler SW, et al. Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn. American Journal of Medical Genetics Part A. 2017;173(6):1586-92.
  • 3. Keskin G, Akin M, Senayli Y, Saydam S, Kurt DTJTJoVA. Evaluation of the difficulty of peripheral venous cannulation during anesthesia induction in children: Is DIVA score sufficient? 2022;23(2):240-5.
  • 4. Porath B, Farooki S, Gener M, Amudhavalli SM, Grote L, Cooley LD, et al. Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome. Clinical genetics. 2020;97(4):670-1.
  • 5. Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, et al. Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog‐patched‐GLI pathway. American Journal of Medical Genetics Part A. 2008;146(20):2589-97.
  • 6. Lovgren ML, Zhou Y, Hrčková G, Dallos T, Colmenero I, Twigg S, et al. Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. British Journal of Dermatology. 2020;182(1):212-7.
  • 7. Yen K, Riegert A, Gorelick MH. Derivation of the DIVA score: a clinical prediction rule for the identification of children with difficult intravenous access. Pediatric emergency care. 2008;24(3):143-7.

Curry Jones Sendromlu Hastada Preoperatif Anestezi Yönetimi

Year 2023, Volume: 11 Issue: 2, 75 - 77, 31.07.2023
https://doi.org/10.21765/pprjournal.1259660

Abstract

Curry-Jones Sendromu (CJS), kraniyofasiyal malformasyonlar, polisindaktili, yamalı deri lezyonları ,göz ve bağırsak anormallikleri ile karakterize nadir görülen bir hastalıktır. Curry Jones Sendromu SMO gen mutasyonuna bağlı olmaktadır. Biz vakamızda Curry Jones Sendrom tanılı çocuk hastaya planlanan operasyon için preoperatif anestezi yaklaşımından bahsettik.

References

  • 1. Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF. Mild case of Curry–Jones syndrome. Clinical Dysmorphology. 2006;15(2):115-7.
  • 2. Wigby K, Twigg SR, Broderick R, Davenport KP, Wilkie AO, Bickler SW, et al. Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn. American Journal of Medical Genetics Part A. 2017;173(6):1586-92.
  • 3. Keskin G, Akin M, Senayli Y, Saydam S, Kurt DTJTJoVA. Evaluation of the difficulty of peripheral venous cannulation during anesthesia induction in children: Is DIVA score sufficient? 2022;23(2):240-5.
  • 4. Porath B, Farooki S, Gener M, Amudhavalli SM, Grote L, Cooley LD, et al. Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome. Clinical genetics. 2020;97(4):670-1.
  • 5. Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, et al. Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog‐patched‐GLI pathway. American Journal of Medical Genetics Part A. 2008;146(20):2589-97.
  • 6. Lovgren ML, Zhou Y, Hrčková G, Dallos T, Colmenero I, Twigg S, et al. Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. British Journal of Dermatology. 2020;182(1):212-7.
  • 7. Yen K, Riegert A, Gorelick MH. Derivation of the DIVA score: a clinical prediction rule for the identification of children with difficult intravenous access. Pediatric emergency care. 2008;24(3):143-7.
There are 7 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Reports
Authors

Burcu Gezer Yurteri 0009-0008-6492-9413

Mehmet Sargın 0000-0002-6574-273X

Publication Date July 31, 2023
Acceptance Date July 20, 2023
Published in Issue Year 2023 Volume: 11 Issue: 2

Cite

Vancouver Gezer Yurteri B, Sargın M. Curry Jones Sendromlu Hastada Preoperatif Anestezi Yönetimi. pediatr pract res. 2023;11(2):75-7.