Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

INTRODUCTION: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases. METHODS: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient. RESULTS: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD. CONCLUSION: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.

The Effects of Vitamin Therapy on ASD and ADHD: A Narrative Review.

The effects of a sufficient amount of vitamins and nutrients on the proper function of the nervous system have always been regarded by scientists. In recent years, many studies have been done on controlling or improving the symptoms of neurological and behavioral disorders created by changes in the level of vitamins and other nutrition, such as omega-3 and iron supplements. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that disrupts individual communication, especially in social interactions. Its symptoms include anxiety, violence, depression, self-injury, trouble with social contact and pervasive, stereotyped, and repetitive behavior. ASD is most noticeable in early childhood. Attention Deficit Hyperactivity Disorder (ADHD) is a lasting pattern of inattention with or without hyperactivity that causes functional disruption in daily life. ADHD symptoms included; impulsivity, hyperactivity, inattention, restlessness, talkativeness, excessive fidgeting in situations such as sitting, meetings, lectures, or at the movies, boredom, inability to make decisions, and procrastination. The exact etiology of ADHD has not yet been found, but several observations have assumed the reduced function of the brain leads to deficits in motor planning and cognitive processing. It has been shown that Pro-inflammatory cytokines and oxidative stress biomarkers could be increased in both ASD and ADHD. Several studies have been done to illustrate if vitamins and other dietary supplements are effective in treating and preventing ASD and ADHD. In this review, we aim to evaluate the effects of vitamins and other dietary supplements (e.g., melatonin, zinc supplements, magnesium supplements) on ASD and ADHD.