RESUMEN
Physical symptoms with normal clinical examinations have been reported without detectable structural or biochemical abnormalities in the comorbidity of somatic symptom disorder and major depressive disorder. This association can have a debilitating effect on their academic and social performance. This case report is about a 13-year-old Afghani immigrant boy with no previous psychiatric history who developed severe body pain leading to a disability during the COVID-19 lockdown and social isolation. During further evaluation, all his clinical examinations were normal, and the diagnosis of major depressive disorder and somatic symptom disorder was confirmed. Cognitive behavioral therapy includes cognitive therapy, changing lifestyle, and a motivational support method. Medical treatment with olanzapine, fluvoxamine, and gabapentin was started. During follow-up, there was improvement in the patient's mood, and the patient began to walk and communicate. It is important to suspect an association of somatic symptom disorder and major depressive disorder in patients with severe body pain and multiemotional factors. Psychiatrists should keep in mind that emotional factors can play a significant role in causing and maintaining physical symptoms.
RESUMEN
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder with no available curative treatment. Although the positive effects of N-acetyl-DL-leucine on cerebellar ataxia have been reported previously, there is little evidence of N-acetyl-DL-leucine's effects in patients with AT. This study assessed the effect of 16 weeks N-acetyl-DL-leucine supplementation on ataxia symptoms in a 9-year-old female with AT. The subject consumed 4 g/day N-acetyl-DL-leucine (2 g in the morning and 2 g in the evening) for 16 weeks. Safety was assessed via clinical blood chemistry prior to the intervention and after 6 and 16 weeks. Additionally, The Scale for the Assessment and Rating of Ataxia (SARA) score was used to assess the drug's effects on ataxia symptoms at baseline, 6, 12, and 16 weeks. Quality of life has also been evaluated by a specialist using the PedsQL questionnaire.Despite some initial (first week only) nausea and constipation, supplementation with N-acetyl-DL-leucine was well tolerated and safe according to blood chemistry measures. The SARA score progressively improved, and by week 16 had improved by 11.0 points (48.88%). Parent and self-reported quality of life assessments indicated physical, emotional, social, and school functions all improved by 16 weeks. Supplementation with N-acetyl-DL-leucine at a dose of 4 g/day for 16 weeks was well tolerated and significantly improved ataxia symptoms and quality of life measures in a young child with AT.
