Demonstrating new-onset or worsened sudomotor function post-COVID-19 on comparative analysis of autonomic function pre-and post-SARS-CoV-2 infection

Aditi Varma-Doyle, Nicole R. Villemarette-Pittman, Paul Lelorier, John England

• Article 100445
• https://doi.org/10.1016/j.ensci.2023.100445
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• Abstract

  Autonomic dysfunction including sudomotor abnormalities have been reported in association with SARS-CoV-2 infection.

  There are no previous studies that have compared autonomic function objectively in patients pre- and post- SARS-CoV-2 infection.

  We aimed to identify if SARS-CoV-2 virus is triggering and/or worsening dysautonomia by comparing autonomic function tests in a group of patients pre-and post-SARS-CoV-2 infection.

  Sympathetic adrenergic and cholinergic dysautonomia probably account for some of the symptoms of Long COVID-19. Sudomotor dysfunction was demonstrated as consistently worsened or new-sequelae to COVID-19 infection. COVID-19 may be responsible for triggering new-onset or worsened small-fiber neuropathy in this sample, supporting previously reported studies with similar findings. However, the findings in our study are preliminary, and studies with larger sample size are needed to confirm these observations.

Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified

Mohammad Kazem Bakhshandeh, Samira Behroozi

• Article 100446
• https://doi.org/10.1016/j.ensci.2023.100446
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• Abstract

  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) constitute the second most prevalent muscular dystrophy, with large deletions or duplications accounting for 66% of cases. No effective treatment exists for DMD/BMD. At present, genetic diagnosis serves as the foundation for gene therapy treatments.

  In this study, a comprehensive molecular investigation was conducted. The subjects diagnosed with DMD/BMD were initially examined using multiplex ligation-dependent probe amplification (MLPA) technology. The negative MLPA results were analyzed further using next-generation sequencing (NGS) technology. The MLPA detected 201 deletions (65.9%) and 20 duplications (6.6%) along the dystrophin gene among the 305 Iranian patients examined. The deletion of exon 52 in the amenable skipping subgroup was associated with an earlier onset age and a more severe phenotype. Twenty-one of the small mutations found in 58 MLPA-negative patients were novel. The most prevalent variants were nonsense variants (46.5%), frameshift variants (31%), splicing variants (6.9%), missense variants (10.4%), and synonymous mutations (5.1%). Our results demonstrate that MLPA and NGS can be effective diagnostic tools for very young patients with a single exon deletion.

Checkpoint inhibitor induced myositis – The value of MRI STIR

Mai Erritzøe-Jervild, David Scheie, Christian Stenør

• Article 100442
• https://doi.org/10.1016/j.ensci.2022.100442
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Paroxysmal painful tonic spasms in neuromyelitis optica spectrum disorder

Shoena Lucas, Patrice H. Lalive, Agustina M. Lascano

• Article 100443
• https://doi.org/10.1016/j.ensci.2023.100443
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• Abstract

  Recently, an association between painful tonic spasms (PTS) and Neuromyelitis Optica Spectrum Disorder (NMOSD) was established.

  This article aims to describe the clinical characteristics of PTS in NMOSD based on a video recording and to provide a literature review on the topic.

  PTS in association with LETM can be considered typical for NMOSD. Although the exact mechanism is unknown, ephaptic transmission after spinal cord damage and excitatory soluble factors released during acute inflammation responses are sought to be involved. Symptomatic treatment with CBZ achieved remission of spams in our case.

Discussing brain magnetic resonance imaging results for neonates with hypoxic-ischemic encephalopathy treated with hypothermia: A challenge for clinicians and parents

Ariel Cascio, Amaryllis Ferrand, Eric Racine, Marie St-Hilaire, ... Pia Wintermark

• Article 100424
• https://doi.org/10.1016/j.ensci.2022.100424
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• Abstract

  Clinicians use brain magnetic resonance imaging (MRI) to discuss neurodevelopmental prognosis with parents of neonates with hypoxic-ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH).

  To investigate how clinicians and parents discuss these MRI results in the context of HIE and TH and how these discussions could be facilitated and more meaningful for parents.

Hypoglycemic hemineglect a stroke mimic

Adrian Rodriguez-Hernandez, Denis Babici, Maryellen Campbell, Octavio Carranza-Reneteria, Thomas Hammond

• Article 100444
• https://doi.org/10.1016/j.ensci.2023.100444
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• Abstract

  Acute hypoglycemia may mimic acute ischemic stroke, but to our knowledge this has never been reported as transient hemineglect syndrome. We present a 60-year-old male with known diabetes mellitus who was brought to the hospital as a stroke alert. The patient had undetectable glucose levels upon arrival of emergency medical services (EMS), therefore hypertonic glucose was given.

  On our assessment in the emergency department (ED)he turned his head to the right side, looking to the right to answer questions when addressed on his left side. The extinction and neglect assessment revealed left-sided extinction on double tactile and visual stimulation. CT perfusion of the brain showed a decreased perfusion in the right cortical area. Given the unclear last known normal, urgent brain magnetic resonance imaging (MRI) was performed; stroke was excluded.

  The patient was admitted to the Intensive Care Unit where glucose was closely monitored. Electroencephalogram showed absence of seizure or postictal activity. The following morning, the patient returned to baseline and was able to recall the event. The episode was attributed to the severe hypoglycemia because of a recent medication change.

Sequential orbital apex syndrome following the COVID-19 vaccination: A case report

Seo-Young Choi, Jae-Hwan Choi, Eun Hye Oh, Kwang-Dong Choi

• Article 100447
• https://doi.org/10.1016/j.ensci.2023.100447
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• Abstract

  Many kinds of vaccines have been developed worldwide to bring the coronavirus disease 2019 (COVID-19) to an end. We report a case of recurrent orbital apex syndrome following the first and third doses of SARS-CoV-2 vaccination.

  A 71-year-old woman presented with acute painless diplopia and visual disturbance for two days. She had received the first dose of the COVID-19 vaccine two weeks before. She showed decreased visual acuity and ophthalmoplegia in the right eye. An orbital magnetic resonance image (MRI) revealed a hyperintense lesion with enhanced bulging in the right cavernous sinus. Following the steroid pulse therapy, she fully recovered. However, six months after the first attack, painful ophthalmoplegia with decreased visual acuity recurred in her left eye after the booster vaccination for COVID-19. MRI also showed a well-enhanced hyperintense lesion in the left orbital apex. Fortunately, her visual acuity and ocular motility returned to normal after the steroid therapy.

  Immunologic reactions from COVID-19 vaccines may cause multiple cranial neuropathies. Diverse individual immunologic states should be considered before any kind of vaccine.

Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome

Arsalan Nadeem, Sumayya Umar, Sohaib Rehmani, Mustafa Javaid

• Article 100448
• https://doi.org/10.1016/j.ensci.2023.100448
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• Abstract

  Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature.

  We present the case of a young female who presented with drooping of her right eyelid, generalized muscle wasting, fatigability of the proximal muscles of her limbs, a nasal twang in her voice, bilateral progressive ophthalmoplegia, and a history of surgically correct ptosis of her left eyelid. Fundoscopy revealed salt-and-pepper-like retinopathy bilaterally. Her electrocardiogram (ECG) findings included an inferior infarct and a left anterior fascicular block.

  This case highlights the importance of multifaceted investigations and prompt diagnosis in resource-limited settings for effective management in suspected cases of KSS.

Double encephalocele with an excellent outcome postoperatively: A case report from Iraq

Ali Tarik Abdulwahid, Ahmed Dheyaa Al-Obaidi, Mustafa Najah Al-Obaidi, Hashim Talib Hashim

• Article 100449
• https://doi.org/10.1016/j.ensci.2023.100449
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• Abstract

  An encephalocele is a congenital neural tube defect that is estimated to have an incidence of 1–2 cases per 10,000 live births. There have been a few cases of double encephaloceles reported in the medical literature. We report an extremely rare case of double encephalocele with an atrial septal defect in Iraq.

  A 2-month-old female infant presented with two swellings at the back of her head since birth. Her mother received poor prenatal care. The examination revealed a microcephaly head and two sacs in the occipital region, which were not connected and were covered completely by skin. The surgery includes a transverse incision, excision of both sacs with necrotic tissue, a duroplasty, and a water-tight dural closure. The operation proceeded without any neurological sequelae or cerebrospinal fluid leakage.

  Double encephalocele is a congenital neural tube defect that is rarely discussed or reported in the medical literature. The management of this condition might be difficult because it requires a special approach for each patient. This case report from Iraq is used to raise awareness about this particular disorder and to motivate clinicians about the importance of early and appropriate management for such cases.

A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia presenting with alien hand syndrome

Bora Chung, Minkyeong Kim, Soo-Kyoung Kim, Heeyoung Kang

• Article 100441
• https://doi.org/10.1016/j.ensci.2022.100441
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