Mycoplasma hominis central nervous system infection diagnosed by metagenomic next- generation sequencing: A case report [2026] - 669KB
by Shaoqi Wu, Kangzuo Luo, Jiajun He, Wenfeng Xu, Lifu Diao, Jun Yin
Mycoplasma hominis (M. hominis) is a rare cause of intracranial infection with diagnostic challenges due to its fastidious nature, nonspecific symptoms mimicking common nervous system infection (e.g.,...

Novel FKTN p. Gly424Asp variant associated with adult-onset dilated cardiomyopathy and seizures in a Chinese patient [2026] - 923KB
by Wen Zhang, Ying Liao, Weijiang Ding, Xueming Li
Fukuyama congenital muscular dystrophy (FCMD) is a rare autosomal recessive α-dystroglycanopathy typically presenting in infancy with severe hypotonia, intellectual disability, and cortical malformat...

Anti-sulfatide IgG in Miller Fisher syndrome: Report of two cases [2026] - 868KB
by Vishnu Prasad Rao, Khoo Jia Jun, Shahidatul-Adha Mohamad, Mahavishnu Sahadevan, Yaakub Azhany
Anti-GQ1b IgG is the hallmark biomarker of Miller Fisher syndrome (MFS), an acute neuropathy characterized by ophthalmoplegia, ataxia and areflexia. In contrast, anti-sulfatide IgG is typically associ...

Nitrous oxide abuse-induced subacute combined degeneration: A case report highlighting vitamin B12 metabolic dysfunction and its implications [2026] - 503KB
by Yixin Bao, Xiaoyun Lei, Chun Sun
Subacute combined degeneration (SCD) of the spinal cord is typically caused by vitamin B₁₂ deficiency and represents a progressive neurological disorder. We report here a 21-year-old male admitted...

A case report: Triangular interval syndrome in an elite swimmer – A diagnostic pitfall of painless weakness [2026] - 426KB
by Azwan Aziz Mohamad, Norlelawati Mohamad, Badrul Akmal Hisham Md Yusoff
Triangular interval syndrome (TIS) is a rare cause of radial nerve entrapment, typically described in throwing athletes or military personnel. We present a case of TIS in an elite swimmer, uniquely ch...

Reversible myotonic myopathy induced by colchicine: A rare mimic of myotonic dystrophy [2026] - 243KB
by Seyma Aykac, Esra Asıkdogan, Fikret Bademkıran, Ibrahim Aydogdu
Colchicine is widely used in the treatment of familial Mediterranean fever (FMF) and other inflammatory disorders and is generally well tolerated. However, neuromuscular toxicity may rarely occur. Alt...

A case series of false positive anti-acetylcholine receptor antibody [2026] - 524KB
by Ko Hin Kho, Mohamed Azlam bin Mohamed Micdhadhu
Myasthenia gravis is an autoimmune neuromuscular disorder typically characterized by fluctuating weakness. Antibody-mediated immunologic attack in the postsynaptic membrane of neuromuscular junction i...

Clinical diversity of different genetic variants changes the way we look at diseases; Two cases of ACTL6B gene-related DECAM syndrome [2026] - 1,121KB
by Canan Üstün, Ayşe Nur Coşkun, Mutluay Arslan, Deniz Torun, Bülent Ünay
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination syndrome (DECAM syndrome) is a rare autosomal recessive neurodevelopmental disorder with developmental delay, ...

Fatal hyperammonemic encephalopathy triggered by valproic acid in adult-onset type II citrullinemia: A diagnostic pitfall [2026] - 951KB
by Young-Soo Kim, Minjung Kim, Do-Hyung Kim, Tae-Won Yang, Oh- Young Kwon, Hyung-Doo Park, Soo-Kyoung Kim
Adult-onset type II citrullinemia (CTLN2) is a rare urea cycle disorder caused by SLC25A13 mutations, often misdiagnosed due to fluctuating neuropsychiatric and metabolic symptoms. Hyperammonemia is i...