34 article(s) found.
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Two cases of thyrotoxicosis with severe myalgia as early presentation [2021] - 289KB
by Yu-Ning Huang, Hsueh-Wen Hsueh, Yang-Chyuan Chang
Myalgia is rare in acquired muscle diseases other than inflammatory myopathies. Thyrotoxic myopathy is usually painless. We reported here two patients with acute onset of thyrotoxicosis presenting wit...

Serial case report: Becker’s muscular dystrophy phenotype with dilated cardiomyopathy in patients with out-of-frame deletion involving exons 38-43 of DMD gene [2021] - 418KB
by Putu Lohita Rahmawati, Ida Ayu Sri Wijayanti, I Komang Arimbawa, Thomas Eko Purwata, I G N Purna Putra, I Wayan Juli Sumadi, Gede Eka Wiratnaya, I Made Putra Swi Antara, Ery Kus Dwianingsih
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscular dystrophies due to mutations of the DMD gene, showing more severe and milder phenotype, re...

Clinical phenotype of Parkinson’s disease with a homozygous PRKN p.Cys441Arg mutation [2021] - 335KB
by Shen-Yang Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Yi Wen Tay, Jia Lun Lim, Kai Bin Lim, Lei Cheng Lit, Peter Bauer, Arndt Rolfs, Christine Klein
We describe the clinical features of a Malaysian woman with Parkinson’s disease (PD) who carried the PRKN p.Cys441Arg mutation in the homozygous state. She had a fairly “classic” clinical presen...

Parkinson’s disease with homozygous PINK1 p.Leu489Pro mutations in two Indian sisters [2021] - 453KB
by Shen-Yang Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Yi Wen Tay, Jia Lun Lim, Norlisah Ramli, Pei Chiek Teh, Rishikesan Kuppusamy, Chong Tin Tan, Khean Jin Goh, Shanthi Viswanathan, Peter Bauer, Arndt Rolfs, Christine Klein
We describe the clinical features of two sisters with Parkinson’s disease (PD) of Indian descent living in Malaysia. Both were homozygous for the known PINK1 mutation p.Leu489Pro (c.1466T>C). The pr...

The use of positive airway pressure and transauricular vagus nerve stimulation in a paroxysmal hemicranias and assessment of sympathetic skin response [2021] - 309KB
by Kübra Mehel Metin, Olcay Tosun Meriç, Levent Ertuğrul İnan, Tahir Kurtuluş Yoldaş
Paroxysmal hemicrania is characterised by severe short-term unilateral headaches that are associated with ipsilateral cranial autonomic symptoms. A rare headache type, paroxysmal hemicrania is include...

Unilateral hypertrophic pachymeningitis in Sjögren syndrome [2021] - 519KB
by Donghyun Kim, Sukyoon Lee, Seong-il Oh
Hypertrophic pachymeningitis is a diffuse cranial inflammatory disease that causes thickening of the dura mater. It is associated with underlying conditions such as autoimmune disease, infection, and ...

Vitamin B12 deficiency manifesting as reversible leukoencephalopathy and ataxia [2021] - 861KB
by Neha Kapoor, Jasmine Parihar, Manjari Tripathi, Rohit Bhatia, Ajay Garg, Rajesh Kumar Singh
We present here a 52 years old man with rapidly progressive cognitive decline and ataxia. Brain MRI showed confluent white matter changes and spinal MRI showed posterior column changes. The patient ha...

Vitamin B12 deficiency as a treatable cause of severe brain atrophy [2021] - 2,725KB
by Hamit OZYUREK, Meltem CEYHAN, Hulya INCE, Omer Faruk AYDIN
We report here two infants with vitamin B12 deficiency who presented with delay in motor and mental development. Neuroimaging studies in our cases revealed diffuse severe cerebral atrophy. Follow-up M...

Intraspinal dissemination of an intracranial hemangiopericytoma in a child: A case report [2021] - 705KB
by Burcin Agridag Ucpinar, Cennet Sahin, Canan Tanık
Hemangiopericytoma (HPC) is a rare tumor with malignant potential, high local recurrence rate and risk of metastasis. The average age of presentation is 35 to 44 years and only 10% of the HPCs occur i...

Para-infectious cerebellar ataxia post Covid 19 infection [2021] - 245KB
by Waseem Dar, Maqbool Wani, Arjimand Yaqoob, Ravouf Asimi, Adnan Raina, Feroze Mir, Hilal Ganie, Zahoor Parray, Amit Chandra
A 65 year old non-smoker hypertensive and diabetic male on permanent pacemaker (for complete heart block 5 years back) was admitted to our hospital for severe covid pneumonia and RT-PCR was positive. ...

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