Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia, and Hallucinations in an Adolescent Male

We encountered an adolescent male with cerebellar ataxia since age 11, difficulty in vertical gaze from age 2, leg weakness since age 10, and partial epilepsy since age 8. At age 14, he developed visual and auditory hallucinations, as well as mild sensorineural deafness. He was evaluated as having a mitochondrial disorder. No common mitochondrial DNA mutations were detected in the blood. Muscle biopsy revealed nonspecific changes and normal respiratory chain enzyme complexes. He developed progressive cognitive decline leading to diagnosis of dementia at age 15, and intractablepartial epilepsy persisted despite treatment with multiple anticonvulsants. He also had progressive dysphagia requiring gastrostomy tube for nutrition. He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

Related Links:

Vagus nerve stimulation for refractory epilepsy may induce laryngeal side effects such as dysphonia and dysphagia. Careful tuning of the stimulation parameters and collaboration between epileptologists and otolaryngologists can help significantly reduce side effects. AbstractVagus nerve stimulation for refractory epilepsy may induce laryngeal side effects such as dysphonia and dysphagia. Careful tuning of the stimulation parameters and collaboration between epileptologists and otolaryngologists can help significantly reduce side effects.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research
We report a series of patients who underwent simultaneous tilt table testing with EEG. Diagnostic benefits are not exclusively the verification of EEG correlates secondary to clinical and cardiovascular changes during syncope, but also confirmation of nonphysiological events, including psychogenic nonepileptic seizures and psychogenic pseudosyncope. Fifty tilt table studies were combined with EEG over a six-year period. Seven studies (14%) captured episodes of behavioral unresponsiveness with normal EEG and EKG patterns, diagnostic of psychogenic pseudosyncope. Whereas psychogenic nonepileptic events are well established i...
Source: The Neurodiagnostic Journal - Category: Neurology Tags: Neurodiagn J Source Type: research
Publication date: Available online 26 February 2020Source: European Journal of Integrative MedicineAuthor(s): Jiao Lan, Ji-fei Miao, Shu-qi Ge, Tie-qu Chai, Chun-zhi Tang, Li-ming Lu
Source: European Journal of Integrative Medicine - Category: Complementary Medicine Source Type: research
Authors: Akiyama T, Saigusa D, Hyodo Y, Umeda K, Saijo R, Koshiba S, Kobayashi K Abstract To characterize metabolic profiles within the central nervous system in epilepsy, we performed gas chromatography-tandem mass spectrometry (GC-MS/MS)-based metabolome analysis of the cerebrospinal fluid (CSF) in pediatric patients with and without epilepsy. The CSF samples obtained from 64 patients were analyzed by GC-MS/MS. Multivariate analyses were performed for two age groups, 0-5 years of age and 6-17 years of age, to elucidate the effects of epilepsy and antiepileptic drugs on the metabolites. In patients aged 0-5 years ...
Source: Acta Medica Okayama - Category: General Medicine Tags: Acta Med Okayama Source Type: research
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
AbstractThe use of psychotropic drugs (antipsychotics, benzodiazepines and benzodiazepine-related drugs, and antidepressants) is common, with a prevalence estimates range of 19 –29% among community dwelling older adults. These drugs are often prescribed for off-label use, including neuropsychiatric symptoms. The older adult population also has high rates of pneumonia and some of these cases may be associated with adverse drug events. In this narrative review, we summariz e the findings from current observational studies on the association between psychotropic drug use and pneumonia in older adults. In addition to stu...
Source: Drugs and Aging - Category: Geriatrics Source Type: research
In this study, the negative effect of antibiotics on abdominal fat deposition was evaluated in broilers. The results showed that adding both chlortetracycline (50  g/1,000 kg) and tylosin (50 g/1,000 kg) significantly increased abdominal fat weight, abdominal fat percentage (p 
Source: Animal Science Journal - Category: Zoology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 19 February 2020Source: Colloids and Surfaces B: BiointerfacesAuthor(s): Fatma Kartal, Adil Denizli
Source: Colloids and Surfaces B: Biointerfaces - Category: Biochemistry Source Type: research
ConclusionCitation searching using Scopus alone would have found all additional relevant studies for the review. Both Scopus and Web of Science failed to return all citing references from the source records, even where they were present on the database, indicating poor links between citations.This article is protected by copyright. All rights reserved.
Source: Research Synthesis Methods - Category: Chemistry Authors: Tags: RESEARCH ARTICLE Source Type: research
ConclusionOur analysis provided strong evidence to indicate a causal relationship between WC and increased risk of CHD.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
More News: Ataxia | Audiology | Brain | Cholesterol | Deafness | Dementia | Epilepsy | Gastroenterology | Genetics | Mitochondrial Disease | Neurology | Niemann-Pick Disease | Nutrition | Pediatrics | Respiratory Medicine