Neurological Adverse Reactions to SARS-CoV-2 Vaccines

SARS-CoV-2 vaccines are not free of side effects and most commonly affect the central or peripheral nervous system (CNS, PNS). This narrative review aims to summarise recent advances in the nature, frequency, management, and outcome of neurological side effects from SARS-CoV-2 vaccines. CNS disorders triggered by SARS-CoV-2 vaccines include headache, cerebro-vascular disorders (venous sinus thrombosis [VST], ischemic stroke, intracerebral hemorrhage, subarachnoid bleeding, reversible, cerebral vasoconstriction syndrome, vasculitis, pituitary apoplexy, Susac syndrome), inflammatory diseases (encephalitis, meningitis, demyelinating disorders, transverse myelitis), epilepsy, and a number of other rarely reported CNS conditions. PNS disorders related to SARS-CoV-2 vaccines include neuropathy of cranial nerves, mono-/polyradiculitis (Guillain–Barre syndrome [GBS]), Parsonage–Turner syndrome (plexitis), small fiber neuropathy, myasthenia, myositis/dermatomyositis, rhabdomyolysis, and a number of other conditions. The most common neurological side effects are facial palsy, intracerebral hemorrhage, VST, and GBS. The underlying pathophysiology is poorly understood, but several speculations have been generated to explain the development of CNS/PNS disease after SARS-CoV-2 vaccination. In conclusion, neurological side effects develop with any type of SARS-CoV-2 vaccine and are diverse, can be serious and even fatal, and should be taken seriously to initiate early treatment and improve outcome and avoid fatalities.

Diagnose Aseptic Meningitis Caused by SARS-CoV-2 Vaccination Only After Ruling Out All Possible Differentials

no abstract available.

Secondary manifestations of mitochondrial disorders / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Mitochondrial disorders (MIDs) are a heterogeneous group of genetic metabolic diseases due to mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA (nDNA) (Rahman and Rahman, 2018). Some affected genes encode proteins with various functions, or structural RNAs such as transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs). MIDs may also be caused by mutations in non-coding regions (e.g., D-loop of mtDNA) (Rahman and Rahman, 2018). Proteins involved in MIDs include enzymes, assembling factors, transport proteins, signaling proteins, pore proteins, and fusion/fission proteins (Gorman et al., 2016). The pathways most frequently affected by mutations in "mitochondrial genes" are the respiratory chain and the oxidative phosphorylation. Dysfunction of many other pathways (e.g., β-oxidation, pyruvate-dehydrogenase complex, and heme synthesis) may also manifest as MIDs (Hu et al., 2019). The estimated prevalence of MIDs is at least 1:5000 (Ng and Turnbull, 2016).

Valproate Is Contraindicated in POLG1 Mutations / 대한소아소화기영양학회지

No abstract available.

Pure or Complex Hereditary Spastic Paraplegia Type 4?

No abstract available.

Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

No abstract available.

Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

No abstract available.

Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations

No abstract available.

tip of the iceberg in maternally inherited diabetes and deafness

Maternally inherited diabetes and deafness [MIDD] is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopathy, and hypogonadism. We used established methods for the routine workup of this patient. MIDD is indeed a multisystem condition. A previously undescribed phenotypic feature of MIDD may be hypogonadism

Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves

Little is known regarding cardiac involvement (CI) by neuromuscular disorders (NMDs). The purpose of this review is to summarise and discuss the major findings concerning the types, frequency, and severity of cardiac disorders in NMDs as well as their diagnosis, treatment, and overall outcome. CI in NMDs is characterized by pathologic involvement of the myocardium or cardiac conduction system. Less commonly, additional critical anatomic structures, such as the valves, coronary arteries, endocardium, pericardium, and even the aortic root may be involved. Involvement of the myocardium manifests most frequently as hypertrophic or dilated cardiomyopathy and less frequently as restrictive cardiomyopathy, non-compaction, arrhythmogenic right-ventricular dysplasia, or Takotsubo-syndrome. Cardiac conduction defects and supraventricular and ventricular arrhythmias are common cardiac manifestations of NMDs. Arrhythmias may evolve into life-threatening ventricular tachycardias, asystole, or even sudden cardiac death. CI is common and carries great prognostic significance on the outcome of dystrophinopathies, laminopathies, desminopathies, nemaline myopathy, myotonias, metabolic myopathies, Danon disease, and Barth-syndrome. The diagnosis and treatment of CI in NMDs follows established guidelines for the management of cardiac disease, but cardiotoxic medications should be avoided. CI in NMDs is relatively common and requires complete work-up following the establishment of a neurological diagnosis. Appropriate cardiac treatment significantly improves the overall long-term outcome of NMDs.

Mitochondrial disorders may mimic amyotrophic lateral sclerosis at onset

Similarities between a mitochondrial disorder [MID] and amyotrophic lateral sclerosis [ALS] fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome [MIMODS]. However, with mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to the Neurological Hospital Rosenhügel, Vienna, Austria, in February 2001 with slowly progressive weakness, wasting and left upper limb fasciculations which spread to the shoulder girdle and lower limbs. Additionally, he developed tetraspasticity and bulbar involvement. He had been diagnosed with ALS a year previously due to electrophysiological investigations indicative of a chronic neurogenic lesion. However, a muscle biopsy revealed morphological features of a MID and a combined complex-II/III defect. Nerve conduction studies were performed over subsequent years until February 2011. This case demonstrates that MIDs may mimic ALS at onset and begin as a mono-organ disorder but develop into a multi-organ disease with long-term progression. A combined complex II/III defect may manifest with bulbar involvement

Haematological abnormalities in mitochondrial disorders

<p><b>INTRODUCTION</b>This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence.</p><p><b>METHODS</b>The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as 'definite', 'probable' or 'possible' according to clinical presentation, instrumental findings, immunohistological findings on muscle biopsy, biochemical abnormalities of the respiratory chain and/or the results of genetic studies. Patients who had medical conditions other than MID that account for the haematological abnormalities were excluded.</p><p><b>RESULTS</b>A total of 46 patients ('definite' = 5; 'probable' = 9; 'possible' = 32) had haematological abnormalities attributable to MIDs. The most frequent haematological abnormality in patients with MIDs was anaemia. 27 patients had anaemia as their sole haematological problem. Anaemia was associated with thrombopenia (n = 4), thrombocytosis (n = 2), leucopenia (n = 2), and eosinophilia (n = 1). Anaemia was hypochromic and normocytic in 27 patients, hypochromic and microcytic in six patients, hyperchromic and macrocytic in two patients, and normochromic and microcytic in one patient. Among the 46 patients with a mitochondrial haematological abnormality, 78.3% had anaemia, 13.0% had thrombopenia, 8.7% had leucopenia and 8.7% had eosinophilia, alone or in combination with other haematological abnormalities.</p><p><b>CONCLUSION</b>MID should be considered if a patient's abnormal blood cell counts (particularly those associated with anaemia, thrombopenia, leucopenia or eosinophilia) cannot be explained by established causes. Abnormal blood cell counts may be the sole manifestation of MID or a collateral feature of a multisystem problem.</p>

Cyclic vomiting syndrome in multisystem mitochondrial disorder

Background: Cyclic vomiting syndrome [CVS] is characterized by recurrent episodes of incapacitating nausea or vomiting accompanied by abdominal pain, interspersed with relatively symptom-free intervals that might last from a few weeks to months. There are a number of indications that CVS could be a manifestation of a mitochondrial disorder [MID]

Aim: To illustrate how a MID may present with symptoms typical of CVS. Case: A 31 year old female diagnosed as having CVS since birth had additional features of short stature, deafness, irritable bowel syndrome, cardiomyopathy with myocardial thickening in the absence of arterial hypertension, hepatopathy with steatosis hepatis, myopathy, and polyarthrosis. Her family history was positive for diabetes, short stature, and migraine with a maternal mode of inheritance, frequently found in patients with MIDs. Frequency of CVS episodes decreased with age but other manifestations of the MID became worse over time. Due to the multisystem nature of the disease and the positive family history, a MID was assumed

Conclusions: Early-onset CVS often improves in adulthood. CVS may be associated with multisystem disease, suggesting the presence of a MID. CVS should be regarded as a manifestation of a MID if typical clinical manifestations of a MID, which cannot be explained by other causes, are present

Fatal Cerebral Air Embolism Due to a Patent Foramen Ovale during Endoscopic Retrograde Cholangiopancreatography

Fatal air embolism to the cerebrum during an endoscopic retrograde cholangiopancreatography (ERCP) has not been reported in a patient with a biliodigestive anastomosis and multiresistant extended-spectrum beta-lactamase Escherichia coli (ESBL) bacteremia. A 59-year-old woman with a history of laparoscopic cholecystectomy and iatrogenic injury of the right choledochal duct, choledochojejunostomy (biliodigestive anastomosis), recurrent cholangitis, revision of the biliodigestive anastomosis, recurrent liver abscesses, and recurrent stenting of stenotic bile ducts, was admitted because of fever and tenderness of the right upper quadrant. On ERCP, a previously deployed covered Wallstent was replaced. Blood cultures grew ESBL. After stent removal 8 days later, the patient did not wake up and developed arterial hypotension and respiratory insufficiency, requiring mechanical ventilation. Computed tomography scans showed extensive air embolism to the liver, heart, and cerebrum. She died 1 day later. Although the exact pathogenesis of the fatal cerebral air embolism remains speculative, the nonphysiological anatomy and chronic infection with ESBL may have been contributory factors.

Intermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy

Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricular myocardium, was first recognised 10 years earlier. Follow-up at age 39 years revealed mild myocardial thickening, two intra-ventricular aberrant bands, and, surprisingly, intermittent pre-excitation on a routine electrocardiography. Cardiac involvement in FSH-MD may manifest as hypertrophic cardiomyopathy or various arrhythmias, of which one may be pre-excitation-syndrome.

Alive with almost no Brain: Severe Post-Hemorrhagic Internal Hydrocephalus

Objectives: Severe post-hemorrhaghic internal hydrocephalus with almost complete atrophy of the cerebral parenchyma, as in the following case, is rare. Case report: A 19yo Caucasian female with a history of premature birth, perinatal intraventricular bleeding, developmental delay, mental retardation, and epilepsy, was admitted for recurrent generalized tonic-clonic seizures. She was able to produce some noises but was unable to communicate with understandable speech. There was severe mental retardation, motor deficits, and tetraspasticity. She was able to sit and eat but was otherwise dependent on the parents’ support. Monotherapy with primidon since age 15y was increased to 500mg/d. A CT scan of the cerebrum showed a massive internal hydrocephalus with atrophy of the basal ganglia, the white matter, the cerebellum, but also the cortex. Neurosurgeons decided against a shunt. Conclusions: Despite severe atrophy of the cerebral parenchyma, severe post-hemorrhagic internal hydrocephalus, manifesting as psychomotor retardation, epilepsy, and tetraspasticity, is compatible with life.