Case report: adenylosuccinate liase deficiency
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Abstract
Objective: This article describes a rare case in Brazilian child diagnosed with adenylosuccinate lyase (ADSL) deficiency, highlighting the clinical characteristics and evolution of neurological conditions, in order to establish diagnostic similarities that may be useful to pediatricians and/ or neuropediatricians regarding the early recognition of this disease. Autosomal recessive mutation in the ADSL gene, located on chromosome 22, was identified using the gene sequencing technique. This research was performed through medical record analysis, imaging test reports, interviews with the patients’ mother, audiovisual records and literature reviews. Case report: We report a case of the classic infantile form of ADSL deficiency, with late-onset epilepsy, diagnosed late, after genetic sequencing. Discussion and Conclusion: The case reported is associated with literature, bring a reflection on the late diagnosis due to the lack of knowledge of the main signs manifested in the early stages of life of people with disabilities and the possibility of including the ADSL gene in genetic sequencing panels for all children who have delays in their neuropsychomotor development. Furthermore, early knowledge of the disability will enable genetic counseling to parents and better therapeutic management in relation to the quality of life of sick children, to delay the evolution of disabilities through multidisciplinary treatments.
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References
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