RESUMO
Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients' early childhood years. Materials and Methods: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables. Results: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives. Conclusion: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.
RESUMO
Aims: Cochlear implantation is becoming the standard treatment for rehabilitating patients with sensorineural hearing (SNH) impairment. Various techniques can be used to achieve this goal. In the current study, we compared the subperiosteal technique (SPT) with the development of a subperiosteal pocket without fixation to the well-drilling method (WD) by constructing an incision into the scalp with suture fixation. Materials and methods: Our study weighted the efficiency of children who underwent WD or SPT from 2017 to 2021 at King Abdulaziz University Hospital. In this retrospective records review, we compared 63 SPT cases with 104 WD cases during a 5-year period who were followed for 1 month or more. Results: There were 88 females (50.9%) and 79 male (45.7%) with a mean age of 4.49 ± 3.06 years at the time of surgery. The mean WD duration was 2.47 ± 1.05 h, and 2.91 ± 1.05 h for SPT (P = 0.01). Moreover, there was a significant relationship between comorbidities and electrode complications (P = 0.022). There was no significant correlation between the surgical method and intraoperative complications (P = 0.714), electrode array issues (P = 0.88), or serious postoperative complications including device failure and migration skin problems (P = 0.207). Conclusion: Overall, the WD technique was faster. However, both methods can be used safely and effectively, as no significant intraoperative or postoperative complications were observed. Further long-term studies are required to validate our findings. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03735-z.