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  3. Vol. 8 No. 2 (2023): April 2023
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Vol. 8 No. 2 (2023)

Esfand 2023

Anesthetic Management of a 9-Years-Old Child Affected by Al-Raqad Syndrome Scheduled for Cataract Surgery: A Case Report

  • Azar Ejmalian
  • Nader Nassiri
  • Shahram Sayyadi
  • Dariush Abtahi
  • Elham Memari

Journal of Cellular & Molecular Anesthesia, Vol. 8 No. 2 (2023), 26 Esfand 2023 , Page 135-138
https://doi.org/10.22037/jcma.v8i2.39304 Published: 2022-10-22

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Abstract

Al-Raqad syndrome (ARS) is a novel and extremely rare autosomal recessive disorder. This syndrome affects many organs, mainly the central nervous and musculoskeletal systems. Al-Raqad syndrome’s manifestations include neurodevelopmental delays and a characteristic phenotype including craniofacial anomalies. This disorder, which is the result of a mutation in the Decapping Enzyme, Scavenger (DCPS) gene, was first described in 2015. We present a 9-year-old child affected with this syndrome, who suffers from severe neurodevelopmental delays, scheduled for cataract surgery. The anesthesia management focused on neurodevelopmental defects and craniofacial and musculoskeletal abnormalities. The reports of this syndrome are scarce, and to our knowledge, the present case is the first report of anesthesia management of this syndrome.

Keywords:
  • Al-Raqad syndrome; Anesthesia; Cataract;
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How to Cite

1.
Ejmalian A, Nassiri N, Sayyadi S, Abtahi D, Memari E. Anesthetic Management of a 9-Years-Old Child Affected by Al-Raqad Syndrome Scheduled for Cataract Surgery: A Case Report. J Cell Mol Anesth [Internet]. 2022 Oct. 22 [cited 2023 Oct. 1];8(2):135-8. Available from: https://journals.sbmu.ac.ir/jcma/article/view/39304
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References

Masoudi M, Bereshneh AH, Rasoulinezhad M, Ashrafi MR, Garshasbi M, Tavasoli AR. Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS. Am J Med Genet A. 2020;182(10):2391-8.

Alesi V, Capolino R, Genovesea S, Capriati T, Loddo S, Calvieri G, et al. An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome. Am J Med Genet A. 2018;176(12):2781-6.

Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, et al. Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. Hum Mol Genet. 2015;24(11):3163-71.

Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, et al. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015;24(11):3172-80.

Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol. 2008;38(5):305-13.

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