AI Article Synopsis
- Two children were diagnosed with mitochondrial disease that showed symptoms similar to NMOSD, including brainstem and spinal cord issues.
- The first child, 15 months old, fell ill after a fever, while the second, at 5 years old, experienced sudden vision loss.
- Both tested negative for MOG and AQP4 antibodies and sadly passed away within a year; early genetic diagnosis is crucial for proper treatment and avoiding harmful medications.
Article Abstract
We report two children with molecularly confirmed mitochondrial disease mimicking Neuromyelitis Optica Spectrum Disorder (NMOSD). The first patient presented at the age of 15 months with acute deterioration following a pyrexial illness with clinical features localising to the brainstem and spinal cord. The second patient presented at 5 years with acute bilateral visual loss. In both cases, MOG and AQP4 antibodies were negative. Both patients died within a year of symptoms onset from respiratory failure. Arriving at an early genetic diagnosis is important for redirection of care and avoiding potentially harmful immunosuppressant therapies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/13524585231172950 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Myelin oligodendrocyte glycoprotein antibody-associated disease mimicking neuromyelitis optica spectrum disorder.
BMJ Case Rep
January 2025
Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and neuromyelitis optica spectrum disorders (NMOSD) are two rare autoimmune inflammatory demyelinating diseases involving the central nervous system, which are often seen with combined involvement of the optic nerve and spinal cord. MOGAD can be confused with multiple sclerosis or NMOSD, due to its clinical presentation that may be similar and its characteristic to progress with habitual attacks. Although the clinical course of the above-mentioned three diseases is similar, their diagnosis and management are different.
View Article and Find Full Text PDFNeuromyelitis optica spectrum disorder mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with symmetrical lesions in the temporal poles and external capsules on MRI.
Neuroradiology
November 2024
Department of Radiology, Kindai University Faculty of Medicine, 377-2 Onohigashi, Osakasayama-shi, 589-8511, Osaka, Japan.
Article Synopsis
- Symmetrical lesions in the temporal poles and external capsules on brain MRI are typically linked to CADASIL but can also appear in NMOSD.
- A study with 55 NMOSD patients revealed that 33 had brain lesions, with only 2 (6%) showing the specific symmetrical lesions linked to CADASIL.
- The findings suggest that when such lesions appear on MRI, NMOSD should be included in the list of possible diagnoses.
Correction to: Neuromyelitis optica spectrum disorder-associated myelitis mimicking intramedullary neoplasm as a diagnostic pitfall: a case report.
Neurol Sci
November 2024
Second Department of Neurology, "Attikon" University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Neuromyelitis optica spectrum disorder-associated myelitis mimicking intramedullary neoplasm as a diagnostic pitfall: a case report.
Neurol Sci
November 2024
Second Department of Neurology, "Attikon" University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Neuromyelitis Optica Spectrum Disorders Mimicking Wernicke Encephalopathy.
Am J Med
August 2024
Department of Neurology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!