Selective paralysis of downward gaze is known to be rare. There are 6 cases reported in the literature based on neuropathologic and anatomical studies. We report a 60-year-old diabetic and hypertensive patient with isolated down gaze palsy. Computed tomography failed to show the lesion in the periaqueductal region, and the diagnosis was made by Magnetic resonance imaging. The case presented is the only one still surviving.
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Strabismus
January 2025
Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
: Canine tooth syndrome is a rare condition defined by the simultaneous presence of superior oblique palsy and Brown syndrome, resulting from pathological changes in the trochlear region. This syndrome can develop through various mechanisms, including dog bites, head trauma, infections, inflammation, and scarring. This report highlights its occurrence following sinus surgery for the first time.
View Article and Find Full Text PDFFront Psychol
January 2025
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Introduction: Children with neurodevelopmental disabilities (NDs) display several developmental impairments across various domains that impact parent-child interactions, emphasizing the need for effective early interventions. This multi-centric study aimed to evaluate the impact of video-feedback intervention (VFI) on enhancing maternal behavior (i.e.
View Article and Find Full Text PDFBrain Behav
January 2025
Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Background: While automated methods for differential diagnosis of parkinsonian syndromes based on MRI imaging have been introduced, their implementation in clinical practice still underlies considerable challenges.
Objective: To assess whether the performance of classifiers based on imaging derived biomarkers is improved with the addition of basic clinical information and to provide a practical solution to address the insecurity of classification results due to the uncertain clinical diagnosis they are based on.
Methods: Retro- and prospectively collected data from multimodal MRI and standardized clinical datasets of 229 patients with PD (n = 167), PSP (n = 44), or MSA (n = 18) underwent multinomial classification in a benchmark study comparing the performance of nine machine learning methods.
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
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