This case series demonstrates a novel clinical phenotype of gait disturbance as an initial symptom in children <3 years old with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. Anti-NMDAR encephalitis is one of the most common causes of encephalitis in children, more common than any of the viral encephalitides and the second most common autoimmune cause after acute disseminated encephalomyelitis. Anti-NMDAR encephalitis in children often presents with disrupted speech and sleep patterns followed by progression to motor dysfunction, dyskinesias, and seizures. Because this condition can present initially with vague symptoms, diagnosis and treatment of anti-NMDAR encephalitis are often delayed. Although nearly 40% of all reported patients are <18 years old, few infants and toddlers have been reported with this disease. Four children <3 years old were diagnosed with anti-NMDAR encephalitis at our institution. Interestingly, each child presented initially with the chief concern of gait disturbance. One child presented with unsteady walking and slurred speech, suggestive of cerebellar ataxia, and 3 had inability to bear weight on a unilateral lower extremity, resulting in unsteady gait. Two of these children had seizures at the time of hospital presentation. All developed classic behavioral changes, insomnia, dyskinesias, or decreased speech immediately before or during hospitalization. When seen in the setting of other neurologic abnormalities, gait disturbance should raise the concern for anti-NMDAR encephalitis in young children. The differential diagnosis for gait disturbance in toddlers and key features suggestive of anti-NMDAR encephalitis are reviewed.
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http://dx.doi.org/10.1542/peds.2016-0901 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFBMJ Open
December 2024
Dr D Y Patil Vidyapeeth, Dr D Y Patil Medical College Hospital and Research Centre, Pune, Maharashtra, India.
Introduction: Parkinson's disease is a neurodegenerative disorder that presents with motor symptoms such as tremors, slowness and gait difficulties, in addition to various non-motor symptoms such as anxiety, depression and autonomic and sleep disturbances. Pranayama (yogic breathing practices) has been studied as a part of yoga interventions in Parkinson's disease. Previous systematic reviews and meta-analyses have not detailed the pranayama practices used in clinical studies, and there is no clarity on the pranayama practices that would be most beneficial for Parkinson's disease.
View Article and Find Full Text PDFJ Transl Med
January 2025
Department of Medical Oncology, Division of Life Sciences and Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, Anhui Provincial Cancer Hospital, Hefei, 230031, Anhui, China.
Background: Agonistic monoclonal antibodies targeting 4-1BB/CD137 have shown preclinical promise, but their clinical development has been limited by severe liver toxicity or limited efficacy. Therefore, a safe and efficient immunostimulatory molecule is urgently needed for cancer immunotherapy.
Methods: A novel anti-MSLN×4-1BB bispecific antibody (bsAb) was generated via antibody engineering, and its affinity and activity were detected via enzyme-linked immunosorbent assay (ELISA), flow cytometry, and T-cell activation and luciferase reporter assays.
Ann Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
Acta Neurochir (Wien)
January 2025
Department of Neurosurgery, Kanazawa University, 13-1 Takara-machi, Kanazawa, 9208641, Ishikawa, Japan.
A 54-year-old man presented with gait disturbances, urinary incontinence, and headache for 6 months. Head computed tomography indicated several high-density mass lesions in the quadrigeminal cistern, causing occlusive hydrocephalus. Digital subtraction angiography confirmed tentorial dural arteriovenous fistulae (AVF).
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