Unique Clinical and Psychiatric Challenges in Elderly Patients With Guillain-Barré Syndrome: A Case Series.

Guillain-Barré syndrome (GBS) is an immune-mediated peripheral neuropathy characterized by rapid-onset bilateral flaccid paralysis and areflexia, often triggered by an antecedent illness. Here, we report three elderly male patients, aged 67, 78, and 81, who developed severe GBS requiring mechanical ventilation. Each patient presented with rapid neurological deterioration following antecedent illnesses, such as respiratory and gastrointestinal infections.

Acute Hemichorea in an Elderly Patient With Positive Anti-centromere Antibodies and Lung Tumor.

Though rare, autoimmune paraneoplastic and non-paraneoplastic chorea can be leading causes of adult-onset acute/subacute chorea. Here, we report a case of acute-onset chorea with suspected autoimmune-mediated mechanisms in a 79-year-old female who exhibited acute-onset choreiform movements on the right side of her body. She tested positive for anti-centromere antibodies (ACAs) without displaying symptoms of scleroderma.

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction.

The chromosome 18q deletion syndrome is a well-recognized chromosomal aberration characterized by intellectual disability, facial dysmorphism, short stature, microcephaly, cardiac anomalies, such as atrial and ventricular septal defect, and hypotonia; however, the phenotype is highly variable depending on the combination of genes within the chromosomal aberration regions. Thus far, no association was found between 18q deletion and cerebral infarction. Herein, we report a case of 18q deletion syndrome that caused juvenile cerebral infarction.

Severe Pressure Ulcers in Two Patients With Adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) is a rare X-linked disease that affects the metabolism of very long-chain fatty acids (VLCFAs), leading to cognitive deterioration, progressive spastic paraplegia, sensory disturbance, adrenocortical insufficiency, and bladder and bowel abnormalities. Although the symptoms of ALD correspond to the risk of developing pressure ulcers, a pressure ulcer has never been listed as a complication of ALD. We present two cases of ALD with severe pressure ulcers in the pelvic region and feet.

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel Variants.

Introduction: Cornelia de Lange syndrome (CdLS) is a rare congenital malformation characterized by distinctive facial features, short stature, and limb defects. In addition, half of the patients with CdLS exhibit repetitive self-injurious behaviors (SIBs) related to intellectual disability with autistic traits. CdLS is caused by pathogenic variants of genes encoding the cohesin complex pathway, with 70% of these variants identified in the nipped-B-like () gene.

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

Intellectual developmental disorder, autosomal dominant 7 (MRD7; OMIM 614104) is a rare disease characterized by microcephaly, intellectual disability, speech delay, feeding difficulties, and facial dysmorphisms. This disorder is caused by pathogenic/likely pathogenic variants of the gene, which encodes dual-specificity tyrosine-phosphorylation-regulated kinase 1A. Here, we report a case of MRD7 that was diagnosed using Face2Gene and whole-exome sequencing (WES).

Band-Like Brainstem Lesion in a Patient With a History of Lung Adenocarcinoma.

Leptomeningeal metastasis (LM) is a severe complication of primary malignancy that has spread to the leptomeninges and cerebrospinal fluid (CSF). Here, we report a patient whose magnetic resonance imaging (MRI) showed a unique brainstem lesion suspicious of LM. A 72-year-old man presented with dizziness, gait instability, and cognitive decline, primarily object naming.

Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.

Introduction: Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal recessive spondyloepimetaphyseal dysplasia characterized by short stature, microcephaly, intellectual disability, and coarse face. This disorder is caused by pathogenic/likely pathogenic variants of the gene which encodes dymeclin.

Case Presentation: Herein, we report a 60-year-old Japanese man who was born to consanguineous parents.

Ketogenic Diet for a Young Adult Patient With Chronic-Phase Febrile Infection-Related Epilepsy Syndrome.

Febrile infection-related epilepsy syndrome (FIRES) is a rare disease, whereby refractory status epilepticus (a severe epileptic syndrome) occurs in previously healthy individuals following a febrile illness. Here, we report a patient with FIRES who received ketogenic diet (KD) therapy initiated in the chronic phase. A 21-year-old man presented with status epilepticus, following fever and headache.

Prevention of Tracheo-Innominate Artery Fistula by Using an Adjustable Tracheostomy Tube.

Tracheo-innominate artery fistula (TIF) is a severe complication associated with a long-term tracheostomy, and TIF-associated bleeding has a high mortality rate. Here, we report two patients who were considered to be at high risk of developing TIF due to retrocollis after tracheostomy. The patients were an 82-year-old woman with Parkinson's disease (PD) and a 64-year-old man with multiple system atrophy (MSA).

Visual illusions in Parkinson's disease: an interview survey of symptomatology.

Background: Several types of visual illusions can occur in Parkinson's disease (PD). However, the prevalence and types of specific illusions experienced by patients with PD remain unclear. This study aimed to investigate the types of illusions.

Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis with Decrease in Blood Flow in Cerebellum.

In anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, progressive cerebellar atrophy potentially leads to severe sequelae. We encountered a patient with anti-NMDAR antibody encephalitis who showed a decrease of blood flow in the cerebellum. A 15-year-old girl presented with consciousness disturbance.

The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21.

Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body.

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder.

A 65-year-old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by any medical institutions until we diagnosed her as a female carrier with ALD.

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

Proteasomes are multisubunit proteases that play a critical role in maintaining cellular function through the selective degradation of ubiquitinated proteins. When 3 additional β subunits, expression of which is induced by IFN-γ, are substituted for their constitutively expressed counterparts, the structure is converted to an immunoproteasome. However, the underlying roles of immunoproteasomes in human diseases are poorly understood.

Long-term follow up of thymus in patients with myasthenia gravis.

We examined transversely the thymus of 33 myasthenia gravis (MG) patients followed up for more than 5 years and found three thymomas. One was found 21 years after thymoma resection (Masaoka I, WHO Type B2 thymoma) and extended thymectomy. The other two were non-thymomatous at onset, and they were not treated with extended thymectomy.

Acute encephalopathy associated with ingestion of a mushroom, Pleurocybella porrigens (angel's wing), in a patient with chronic renal failure.

The authors report an autopsy case of acute encephalopathy in which generalized convulsion and coma occurred after ingestion of Pleurocybella porrigens (angel's wing mushroom). The patient was a 65-year-old man who had undergone hemodialysis for 3 months due to chronic renal failure. Pathologic examination of the brain revealed extensive postinfarction-like cystic necrosis in the bilateral putamens and multiple spotty necroses in the deep cerebral and cerebellar cortices.

[The research of the pathogen responsible for Pleurocybella porrigens related encephalopathy: investigation of 3-nitropropionic acid hypothesis].

Pleurocybella porrigens related encephalopathy exhibits consciousness disturbance and convulsion in the patients after taking and patients show bilateral basal ganglia lesion resulted in high mortality rate. This encephalopathy is a very similar to the moldy sugarcane encephalopathy epidemic in China in the past. We investigated the relationship between Pleurocybella porrigens related encephalopathy and 3-nitropropionic acid which had caused the moldy sugarcane encephalopathy.

Structural role of countertransport revealed in Ca(2+) pump crystal structure in the absence of Ca(2+).

Ca(2+)-ATPase of sarcoplasmic reticulum is an ATP-powered Ca(2+) pump but also a H(+) pump in the opposite direction with no demonstrated functional role. Here, we report a 2.4-A-resolution crystal structure of the Ca(2+)-ATPase in the absence of Ca(2+) stabilized by two inhibitors, dibutyldihydroxybenzene, which bridges two transmembrane helices, and thapsigargin, also bound in the membrane region.

[A case of encephalitis-type encephalopathy related to Pleurocybella porrigens (Sugihiratake)].

A 65-year-old man who had been on hemodialysis for chronic renal failure was well until 7 days after ingestion of Pleurocybella porrigens (Sugihiratake) when he developed a loss of consciousness and status epilepticus of generalized tonic and clonic seizures. High fever and high CRP were followed and cerebrospinal fluids showed marked pleocytosis with polynuclear cell predominance. Brain MRI showed diffuse lesions in the basal ganglia and multiple ringed lesions in cerebral cortex.