Annals of Indian Academy of Neurology最新文献

Background and objectives: Acute transverse myelitis (ATM) is a rare inflammatory spinal cord disorder causing significant motor, sensory, and autonomic dysfunction in children. Although advances in diagnosis and therapy have improved outcomes, data on early treatment response and associated factors remain limited, particularly in Southeast Asia. This study aimed to identify clinical, radiological, and immunological factors associated with early in-hospital response in children with ATM in Vietnam.

Methods: This retrospective case-control study included 56 children under 18 years of age diagnosed with ATM between 2018 and 2023. Participants were divided into a case group (poor early response, n = 29) and a control group (good early response, n = 27) based on their functional status at discharge, as assessed by the Paine and Byers scale. Clinical, cerebrospinal fluid (CSF), and magnetic resonance imaging (MRI) findings, as well as myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) antibody results, were analyzed. Logistic regression was performed to identify factors associated with poor early response.

Results: Severe lower limb motor weakness (Medical Research Council [MRC] muscle strength scale ≤ 1) at admission was independently associated with poor early response (OR 14.7, 95% CI: 3.0-73.2, p < 0.05). Respiratory muscle weakness, the need for mechanical ventilation, and the absence of MOG antibodies were also linked to poor early outcomes. Radiological features, including longitudinally extensive transverse myelitis (LETM), cervical involvement, and gadolinium enhancement, were not significantly associated with early response.

Conclusions: Severe motor and respiratory involvement at presentation were key indicators of poor early treatment response in pediatric ATM. Recognizing these factors promptly may guide risk stratification and early management. Longitudinal studies are needed to evaluate their predictive value for long-term recovery.

Abstract: Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles. Limited evidence suggests possible respiratory muscle weakness and obstructive sleep apnea (OSA). We aimed to assess daytime lung functions and OSA in GNE myopathy. Nine patients were evaluated by spirometry, maximal inspiratory pressure (MIP), maximal expiratory pressure, single-breath count (SBC), peak cough flow (PCF), arterial blood gases (ABG), sleep questionnaires, and polysomnography. All patients had normal spirometry and ABGs, but 55.6% had decreased MIP, 44.4% had decreased PCF, and 55.6% had SBC<20. Poor sleep quality was common (77.8%). OSA was present in 66.7% of the patients. In conclusion, subclinical respiratory muscle weakness and OSA were frequent in GNE myopathy patients with normal spirometry. Therefore, MIP, PCF, SBC, and polysomnography should be included in routine evaluation.

Abstract: Ictal bruxism (IB) is a rare oro-alimentary automatism in focal seizures. We report a series of six patients with IB in drug-resistant temporal lobe epilepsy (TLE) treated subsequently with temporal lobectomy. All patients had ictal teeth grinding with semiological features, suggestive of temporal lobe origin. Ictal electroencephalogram (EEG) onset showed artifacts corresponding to bruxism; one patient had a "checkerboard" pattern of EEG artifacts corresponding with lateral jaw movements. Five patients had a lesion in the mesial temporal lobe, while one patient had a neocortical temporal lobe lesion. Right temporal localization was observed in five, while one patient had left temporal localization. At the latest post-surgery follow-up of 3 to 14 years (mean 8.83 ± 3.53 years), all patients were seizure-free. IB is an under-recognized ictal phenomenon of TLE representing oro-mandibular automatisms involving the limbic networks. It is a sign of ictal localization to the temporal lobe but not a lateralizing sign.

Abstract: Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV, PIGY, PIGO, PGAP2, PIGW, and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4.

Abstract: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene, leading to defective triglyceride hydrolysis and lipid accumulation in tissues. We report a 28-year-old Indian female presented with a 4-year history of progressive, asymmetric limb weakness, elevated creatine kinase (1000 U/L), and vitiligo. Muscle magnetic resonance imaging (MRI) revealed asymmetric fatty infiltration. Muscle biopsy showed subtle vacuolar changes; notably, oil red O staining was negative, a known limitation in formalin-fixed tissue. Whole-exome sequencing identified a novel, likely pathogenic homozygous frameshift mutation, c. 212del, in exon 3 of PNPLA2, absent in population databases (gnomAD, ClinVar) and classified as likely pathogenic as per American College of Medical Genetics and Genomics (ACMG) criteria (PVS1, PM2). This case underscores the phenotypic variability of NLSDM and expands the genetic spectrum of the disease in the Indian population, highlighting the critical role of genetic testing for definitive diagnosis-particularly when histopathological lipid staining is unrevealing.