32 article(s) found.
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CLCN1 mutations could lead to atypical myotonic symptoms and abnormities on electromyography [2020] - 691KB
by Di Wu, Baoyu Yuan, Yijing Guo, Fangyuan Qian, Xiaoli Li
Inactivation of the skeletal muscle chloride channel ClC-1 results in myotonia congenita (MC), which occur with mutations of CLCN1 gene. However, there is no clear correlation between genotype and phe...

Marked hemiatrophy caused by a nonsense mutation of the dystrophin gene in a female patient of Duchenne muscular dystrophy [2020] - 454KB
by Zhi-Jie Zhou, Yu-Quan Shao, Fei Xie, Ping Xia
Our objective is to report a female carrier of Duchenne muscular dystrophy (DMD) presented with remarkable asymmetric limb weakness and atrophy caused by a heterozygous point mutation in DMD gene. The...

Childhood-onset demyelinating polyneuropathy: challenges in differentiating acquired from genetic disease [2020] - 693KB
by Tsun-Haw TOH, Kar-Foo LAU, Chee-Geap TAY, Tze-Yang CHUNG, Nortina SHAHRIZAILA, Cheng-Yin TAN
Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) can be misdiagnosed for the more common genetic neuropathies such as Charcot-Marie-Tooth (CMT) disease. We present a case of childhoo...

Total recovery of a patient with psychogenic parkinsonism and the diagnostic utility of contralateral pronation-supination task during EMG recording [2020] - 638KB
by Halil Onder
Psychogenic movement disorders are commonly seen in neurology clinics which can lead to severe disability. Despite their high prevalence, they constitute a grey area between neurology and psychiatry w...

COVID-19 infection presenting with acute thalamic infarction in a patient with Fahr’s disease [2020] - 526KB
by İsmail İŞTEMEN, Mehmet BABAOĞLAN, Ali ARSLAN, Semih Kıvanç OLGUNER, Vedat AÇIK
Both Fahr’s disease and SARS-CoV-2 infection can lead to thrombotic events. Fortunately, they are rare occurring together. There are no previous reports of SARS-CoV-2 infection in association with F...

Airplane headache: An atypical case with autonomic symptoms and long duration [2020] - 239KB
by Ceyla Ataç, Ayşın Kısabay Ak, Güldeniz Çetin, Melike Batum, Figen Gökçay, Deniz Selçuki
Airplane Headache (AH) which is classified under headache attributed to disorder of homeostasis in International Classification of Headache Disorders (ICHD) -3 is a severe, unilateral, orbitofrontal h...

Reversible splenial lesion syndrome (RESLES) associated with NMDAR antibody type autoimmune encephalitis [2020] - 781KB
by Sudath Ravindra, Chulika Makawita, Hasini Munasinghe, Ishani Rajapakshe, Bimsara Senanayake
Reversible splenial lesion syndrome (RESLES) is frequently observed in encephalitis or encephalopathy caused by various pathogens such as influenza virus A, rotavirus, and measles. It is also associat...

Cervical spinal ependymoma in a child with Down syndrome: A case report and review of the literature [2020] - 870KB
by Thitiporn Fangsaad
Down syndrome is one of the most common chromosomal abnormalities. They have an increased risk of leukemia and other hematologic malignancies due to 3 oncogenes on chromosome 21. However, solid tumors...

Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the GLRX5 gene [2020] - 410KB
by Nafiye Emel ÇAKAR, Serhat SEYHAN
Nonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine clea...

Acute acro-paraesthesia and bilateral clumsy hand syndrome rare presenting manifestation of vitamin B12 deficiency: a case report highlighting clinico- radiological findings at diagnosis and follow-up [2020] - 702KB
by Sumit Kumar Sonu, Yogesh Lalmalani, Sumeet Kumar, Kamal Verma
Subacute combined degeneration of the spinal cord (SCD) is a neurodegenerative disease characterized by subacute progression in the central and peripheral nervous systems mainly caused by vitamin B12 ...

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