Objective: The objective of the study was to describe a rare case of riboflavin (RF) transporter deficiency (RTD) caused by a homozygous nonsense variant in SLC52A3 not previously associated with a detailed clinical phenotype, and to review the clinical features, genetic findings, and therapeutic response reported in the literature. Methods: We report the clinical, neuro-physiological, and genetic findings of an infant diagnosed with RTD. Molecular analysis was performed using next-generation sequencing, with variant confirmation by Sanger sequencing. Variant interpretation followed the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines. In addition, a narrative review of the literature was conducted, focusing on previously reported cases of SLC52A2 and SLC52A3 mutations. Results: The patient presented with progressive neuromuscular involvement, including hypotonia, dysphagia, and respiratory failure requiring ventilatory support. Genetic testing identified a homozygous nonsense variant in SLC52A3, predicted to result in loss of protein function. This vari-ant has been previously deposited in ClinVar by the testing laboratory but has not been reported in published clinical cases to date. Despite early initiation of high-dose RF supplementation, no significant clinical improvement was observed. Review of the literature suggests that missense variants are more frequently associated with partial therapeutic response, whereas severe loss-of-function variants, such as nonsense mutations, are associated with poorer outcomes. Conclusions: RTD should be considered in infants with progressive neuromuscular symptoms and respiratory compromise. Although early RF supplementa-tion remains essential, this case highlights that therapeutic response may be limited in patients harboring severe loss-of-function variants, underscoring the importance of genotype-phenotype correlations for prognosis and clinical counseling.
Idiopathic intracranial hypertension is a syndrome characterized by increased intracranial pressure without an identifiable cause. It primarily affects young women and is associated with obesity. Its pathophysiology involves alterations in cerebrospinal fluid (CSF) dynamics, vascular dysfunction, and hormonal and metabolic factors. The main symptoms include headache, papilledema, and visual disturbances, although neuropsychiatric manifestations and sleep disorders may also occur. Diagnosis is based on clinical criteria, neuroimaging such as magnetic resonance imaging and magnetic resonance venography, and measurement of CSF pressure. Diagnostic tools such as optical coherence tomography and transorbital ultrasound have proven useful for diagnosis and monitoring. Treatment varies according to severity and includes lifestyle modification, pharmacological therapy with acetazolamide and topiramate, and, in cases refractory to medical treatment, surgical procedures such as CSF shunting, venous sinus stenting, or optic nerve sheath fenestration. During follow-up, both clinical outcomes and findings from diagnostic tools should be regularly assessed. This narrative review summarizes current evidence and highlights the need for standardized protocols and clearly defined therapeutic goals to improve visual prognosis.
Post-stroke dysphagia (PSD) is a frequent condition and affects 80% of stroke patients. It increases the risk of malnutrition, pneumonia, and reduced quality of life. Its main risk factors include brainstem infarcts, a high NIHSS score, advanced age, hypertension, and diabetes. Pathophysiology involves both sensory and motor dysfunction with reduced spontaneous swallowing and disruption in the swallowing neural network. Early diagnosis is essential, through videofluoroscopy or fiberoptic endoscopic evaluation. Treatment combines rehabilitation, behavioral strategies, neurostimulation, and acupuncture being an alternative of treatment. Complications include malnutrition, pneumonia, and worsening quality of life. PSD worsens prognosis and requires a multidisciplinary approach to management. Despite advancements, more robust studies are needed to optimize treatment and improve clinical outcomes.
Objective: This study aimed to evaluate changes in stigma over 1 year among people with Parkinson’s disease (PwP). Methods: A longitudinal, observational study was conducted. Data were collected at 2 time points: baseline and at a 1-year follow-up visit. Demographic and clinical data were collected, including disease severity, motor and non-motor symptoms severity and health-related quality of life. Stigma was assessed using the corresponding subdomain of the 39-item PD Questionnaire. Results: A total of 117 PwP were included (55.6% male; mean age 61.9 ± 12.4 years). After a mean follow-up of 12.8 months, significant improvements were observed in motor symptoms, mobility, and activities of daily living. Stigma levels remained largely unchanged overall, with only 29.1% of participants showing improvement. This group had greater reductions in non-motor symptoms and total Movement Disorder Society-Unified PD Rating Scale scores compared to those with no change or worsening. Multivariate analysis identified changes in perceived social support and presence of anxiety as significant predictors of stigma improvement (p = 0.02 and p = 0.03, respectively). Conclusions: While clinical improvements were observed over 1 year, self-perceived stigma remained mostly unchanged. Improvement in stigma was associated with better patient-reported outcomes and linked to lower anxiety and better perceived social support. These findings show the importance of integrating psychosocial strategies into PD care to address stigma effectively.
