CADASIL with an unusual presentation of prosopagnosia [2022] - 448KB
by Ru Ying Fong, Yeow Hoay Koh
CADASIL is a rare autosomal dominant arteriopathy due to a NOTCH3 mutation on chromosome 19, known to result in subcortical infarcts and leukoencephalopathy. Here, we present a middle-aged gentleman w...

Involuntary anterior abdominal wall movements: A rare presentation of truncal epilepsia partialis continua due to stroke [2022] - 295KB
by Manisha Sharma, Bindu Menon, Gayatri Manam
Involuntary truncal movements are a challenging clinical scenario in view of limited documentation and experience, multiple close differentials, and variable aetiological profiles. We present a rare c...

Hemichorea without MRI findings accompanied by significant internal carotid artery stenosis: A case report [2022] - 638KB
by Hang Su, Qing-Hua Cao, Guang-ling Sun, Yu Xu, Tao Ying
Hemichorea is a clinical syndrome characterized by rapid, purposeless, irregular, and uncontrollable choreographic movements of the limbs and/or face, and it is frequently associated with cerebral inf...

IVIG treatment in non-paraneoplastic Lambert- Eaton myasthenic syndrome with elevated voltage- gated calcium channels antibodies and subacute cerebellar ataxia [2022] - 243KB
by Yi Rong Chiew, Kok Pin Ng
Non paraneoplastic Lambert Eaton myasthenic syndrome (LEMS) is rare and only very few cases have been reported to date. Besides that, LEMS is rarely associated with cerebellar ataxia. Here, we describ...

Guillain–Barré syndrome with weakness confined to the bilateral upper extremities after ChAdOx1-S/ nCoV-19 vaccination [2022] - 250KB
by Min Cheol Chang
Currently, vaccination against coronavirus disease (COVID-19) is being conducted worldwide, and studies on its side effects are required to evaluate its safety. We report a case of Guillain-Barré syn...

A patient with neurofibromatosis type 1 and myotonic dystrophy type 1 [2022] - 3,918KB
by Serdaroglu Esra, Gunbey Ceren, Anlar Banu
The association of two neurological disorders in one patient can result in diagnostic delay despite the presence of well known clinical features. We present here a patient with neurofibromatosis type ...

Isolated vocal cord paralysis mimicking respiratory weakness in MuSK myasthenia [2022] - 390KB
by Naveen Kumar Paramasivan, Kavadisseril Vivekanandan Vysakha, Kiran Vishnu Narayan, Jayaprabha Sathyabhama, Sruthi S Nair
Vocal cord paralysis is a rare manifestation of myasthenia gravis and challenging to diagnose with presentations other than stridor. We discuss a patient with MuSK myasthenia gravis who had respirator...

A case of probable chronic inflammatory demyelinating polyradiculoneuropathy presenting as unilateral lumbosacral plexopathy [2022] - 630KB
by Julia Lim, Malhotra Abhishek
Focal chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is rare but should be considered in the differential diagnosis of chronic progressive neuropathy affecting a single limb. We repo...

Rare homozygous PRKN exon 7 duplication in a Ibanese patient from Northwestern Borneo with young onset Parkinson’s disease [2022] - 850KB
by Siaw Cheng Wong, Zhun Foo Tan, Yi-Wen Tay, Wan Chung Law, Azlina Ahmad-Annuar, Ai Huey Tan, Shen-Yang Lim
We describe the clinical features of a Sarawakian man of Ibanese ethnicity with young-onset Parkinson’s disease (PD), who carried a very rare homozygous PRKN exon 7 duplication. Truncal dystonia was...

Red ear syndrome: Three new pediatric cases [2022] - 261KB
by Çağatay Günay, Semra Hız Kurul, Taner Kemal Erdağ, Yüksel Olgun, Uluç Yiş
Red ear syndrome (RES) is characterized by paroxysmal burning sensation, pain, edema and reddening of unilateral or bilateral ear lobe, usually provoked by different triggers. The exact prevalence in ...