A variant in SLC12A5 for a familial benign Rolandic epilepsy [2023] - 3,185KB
by Jong Hun Kim, Hyoung Seop Kim
Benign Rolandic epilepsy (BRE) is the most common cause of epilepsy in childhood. Childhood epilepsies have high heritability, and many BRE cases show an autosomal dominant inheritance pattern. Thanks...

Hemophagocytic lymphohistiocytosis associated with sodium valproate [2023] - 389KB
by Xiang-Dong Zeng, Ping Liu, Wen-Guang Hu
Hemophagocytic lymphohistiocytosis(HLH) is known to have numerous causes, such as chronic inflammation, infection, malignancy, drug use, and primary or familial HLH. HLH triggered by valproate (VPA) h...

A case of herpes zoster-related phrenic nerve palsy: Effect of home-based pulmonary rehabilitation [2023] - 932KB
by Seongeun Park, Ji Cheol Shin, Kye Hee Cho, Sang Hee IM
Here, we report the case of a 62-year-old man with herpes zoster-related phrenic nerve palsy, which was evident in clinical, radiological, and electrodiagnostic studies. To aid clinical recovery and p...

CAV-3-related age-dependent muscle diseases: A novel mutation in mother and son [2023] - 509KB
by Hande Tekin, Pınar Edem
The caveolin-3 protein encoded by the CAV-3 gene is a muscle-specific protein found in skeletal, smooth, and cardiac muscle. Caveolin-3 defects lead to several muscle diseases: rippling muscle disease...

A rare lentiform fork sign in a patient with methanol intoxication with neurological sequelae of parkinsonism and cognitive dysfunction: A case report and literature review [2023] - 1,654KB
by Bo-Xuan Huang, Chin-Hsien Lin
Methanol intoxication is rare in developed countries. Early identification and elimination of the methanol metabolites are vital to an optimal prognosis. A characteristic brain imaging finding is bila...

Percutaneous balloon compression for trigeminal neuralgia due to the primitive trigeminal artery: A case report and review of the literature [2023] - 779KB
by Runqi Cheng, Tiansheng Wang, Songshan Chai, Bo Yang, Nanxiang Xiong
Trigeminal neuralgia (TN) is often caused by vascular compression of the trigeminal nerve cisternal segment. TN due to the primitive trigeminal artery formed by developmental variants of cerebral vess...

Paraneoplastic seropositive AQP4-IgG neuromyelitis optica spectrum disorder associated with sigmoid adenocarcinoma [2023] - 866KB
by Sarah Hasnor Abu Hassan, Sumit Kumar Sonu
Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing demyelinating and inflammatory disease of the central nervous system, mediated by aquaporin-4 (AQP4)-immunoglobulin G (IgG) autoimmunity. ...

Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology [2023] - 399KB
by Çağatay GÜNAY, Hüseyin ONAY, Fikret BADEMKIRAN, Semra HIZ KURUL, Uluç YİŞ
Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly defined rare syndrome: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Although hea...

Cerebral venous sinus thrombosis in young children with inflammatory bowel disease: A report of two cases [2023] - 748KB
by Norashikin Mohd Ranai, Kee Seang Chew, Wei Kang Lim, Choong Yi Fong, Limin Li, Ruey Terng Ng, Way Seah Lee
We describe two young children aged 2 and 5-year-old with very early onset inflammatory bowel disease (IBD), who developed focal seizures during an acute flare of disease. Cerebral venous sinus thromb...

Papilledema with acute profound visual loss in capillary haemangioma of the sphenoid sinus with sellar and parasellar extensions – a triple rarity presentation [2023] - 1,738KB
by Khalilah Mastura Zahari, Nurul Ain-Masnon, Othmaliza Othman, Kartikasalwah Abd Latif, Noraini Mohd Dusa
Intracranial capillary haemangioma (ICH) is rare. We report a unique case of a young man with ICH who was presented with papilledema and acute profound visual loss. A 27-year-old man presented with bi...