|Ictal dancing-like semiology in frontal lobe epilepsy|
|Peculiar EEG signatures, ictal drinking and long-term follow-up in anti-LGI1 encephalitis|
|G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters|
The voltage-gated sodium channel NaV1.7, encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in epileptogenesis. Previous studies have identified an increasing number of SCN9A mutations in patients with variable epilepsy phenotypes. Phenotypes of SCN9A mutations include febrile seizures (FS), genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS), which pose challenges in clinical treatment. Here, we identified a heterozygous SCN9A mutation (c.980G > A chr2:167149868 p.G327E) from two twin sisters with Rolandic epilepsy by whole-exome sequencing. The patient became seizure free with a combination of levetiracetam and clonazepam. Identification of this mutation is also helpful for advancing our understanding of the role of SCN9A in epilepsy and provides deeper insights for SCN9Amutations associated with broad clinical spectrum of seizures.
|Reply to: "Diagnostic test accuracy of the Montreal Cognitive Assessment in the detection of post-stroke cognitive impairment under different stages and cutoffs: a systematic review and meta-analysis"|
|Autoimmune autonomic ganglionopathy associated with monoclonal gammopathy of undetermined significance: a case report|
|Lack of inter-muscular coherence of axial muscles in Pisa syndrome|
Pisa syndrome is a lateral deviation of the trunk described in Parkinson's disease (PD). Its etiology is still unknown; advanced muscular signal analysis techniques, such as inter-muscular coherence, could help clarifying its pathophysiology and suggest therapeutic strategies.
Fourteen idiopathic PD subjects with a lateral deviation of the trunk of at least 10° were included. Electromyographic (EMG) signal was recorded from bilateral thoracic, and lumbar para-spinal and obliqui externi muscles. The synchronization between EMG right and left side signals was quantified using the magnitude-squared coherence function.
In our sample, coherence (range 0–1) did not exceed 0.3, which indicates a lack of intra-muscular coherence.
This finding is suggestive of a defective muscular fine-tuning, which has been associated with bradykinesia. These data support the hypothesis of PS as a clinical sign of bradykinesia, impacting on therapeutic and rehabilitative options.
|Uremia presented as acute cranial neuropathy|
|Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa|
Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment. We report on two patients (respectively 12 and 3 months old) with infantile-onset Pompe disease and severe cardiomyopathy, that presented with severe reactions during infusion of enzyme replacement therapy and were successfully desensitized with a new individualized protocol. Our protocol, using microdilution and a premedication with antihistamines, corticosteroids, and tranexamic acid, seems safe and effective and it may allow the continuation of therapy in Pompe patients resulting in the reduction of morbidity and mortality related to this disease.
|Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2|
|Cancer and motor neuron disease—causal or coincidental? Two contrasting cases|
Motor neuron disease (MND) can occur in patients with cancer, but there is minimal evidence that this is more than by chance. We contrast two cases of motor neuronopathies occurring in the context of systemic malignancy and argue that in one case the cause was most likely paraneoplastic, while in the other it was not.
A 61-year-old woman developed progressive walking difficulties over 9 months with weakness and stiffness in her legs. EMG showed fibrillations and positive sharp waves in multiple lower limb muscles bilaterally, with neurogenic units and a reduced recruitment pattern. An invasive ductal carcinoma of the breast was identified and she continued to deteriorate neurologically with worsening mobility, upper limb spasticity and fasciculations. She died approximately 26 months after symptom onset.
A 57-year-old woman developed weight loss and weakness of her right arm without any sensory symptoms. At presentation, she had wasting and fasciculations in her right upper limb muscles, with normal reflexes, normal left upper limb and lower limb examination. Over the following week, she developed left upper limb weakness and fasciculations, brisk knee reflexes, and flexor plantar responses. Her EMG showed upper and lower limb denervation. She was found to have anti-Hu and anti-CV2 antibodies present in serum. A PET-CT showed active uptake in lymph nodes in the right hilum. Biopsy confirmed a small cell lung cancer. She had chemoradiation therapy and the tumour went into remission. She has remained well on follow-up 24 months later, regaining weight and strength after her chemotherapy. She continues to be monitored for cancer recurrence, but thus far appears to be in remission.
In cases with rapidly progressive MND, particularly of upper limb onset, consideration should be given to testing anti-neuronal antibodies and searching for an occult tumour.
Παρασκευή, 21 Ιουνίου 2019
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