Probst bundles are selectively seen in patients with agenesis of the corpus callosum (CC) and are thought to be homologous to the CC. We herein report a 19-year-old woman with partial agenesis of the ...CC. She developed acute encephalopathy during Bordetella pertussis infection. Brain magnetic resonance imaging (MRI) showed restricted diffusion of bilateral Probst bundles. She was treated with anti-epileptics and azithromycin and recovered with no neurological sequelae. Follow-up MRI showed the resolution of the diffusion abnormality. The characteristics of diffusion-weighted images on brain MRI and clinical course mimicked those in cases of clinically mild encephalopathy/encephalitis with reversible splenial lesion.
Acute necrotizing encephalopathy (ANE) is a severe encephalopathy associated with acute viral infection. While most ANE cases are sporadic, pathogenic variants in the gene RAN binding protein 2 ...(RANBP2) have been identified as a major cause of familial or recurrent ANE (ANE1). Although sporadic ANE predominantly affects Asian children, ANE1 is very rare in east Asia.
A 1-year-7-month-old boy, born to unrelated Japanese parents, presented with a seizure and impaired consciousness after 3 days of fever. Brain magnetic resonance imaging (MRI) showed a characteristic involvement of the bilateral thalami, external capsules, insular cortices, and brainstem, suggesting ANE. He received intravenous steroids. Two months later, he had another episode of acute encephalopathy during respiratory syncytial virus infection, from which he recovered relatively well. The recurrent encephalopathic episodes and the characteristic MRI suggested ANE1. Genetic analyses revealed two variants: a rare heterozygous missense variant of RANBP2 c.1754C>T; p.Thr585Met, and a thermolabile polymorphism in carnitine palmitoyltransferase 2 (CPT2) c. 1055T>G; p.Phe352Cys.
This is the first case of recurrent ANE with an RANBP2 mutation in Japan. The patient also harbored a CPT2 polymorphism that is linked to acute encephalopathy in Japanese patients. Thus, he had a genetic background with two susceptibility variants for acute encephalopathy, RANBP2 (frequent in the Caucasians), and CPT2 (frequent in the Japanese). Further studies are needed to fully discover the genetic predisposition to familial or recurrent ANE in the Asian population.
X-linked lymphoproliferative disease type 1 (XLP1) is a rare monogenic immune dysregulation disorder caused by a deficiency of a signaling lymphocyte activation molecule-associated protein (SAP). ...While many patients with XLP1 present with fatal hemophagocytic lymphohistiocytosis upon Epstein Barr virus (EBV) infection, a small fraction present with limbic encephalitis in the absence of EBV infection. It is poorly understood why SAP deficiency may cause limbic encephalitis in XLP1.
A 12-year-old boy presented with seizures, changes in personality, memory loss, and cognitive deficits during treatment for interstitial pneumonia. A diagnosis of limbic encephalitis was made. Despite treatment against CD8+ T cell-mediated autoimmunity with intravenous methylprednisolone, dexamethasone, intravenous immunoglobulin, plasma exchange, cyclosporine, weekly etoposide, mycophenolate mofetil, and adalimumab, encephalitis progressed until the patient died after one month of treatment intitiation. Post-mortem genetic testing revealed a de novo SH2D1A truncating mutation. Tests for EBV infection were negative. Initial spinal fluid revealed markedly elevated protein levels, mild pleocytosis, and elevation of two chemokines (C-X-C motif chemokine ligand CXCL 10 and CXCL 13). Moreover, initial spinal fluid was tested positive for anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) autoantibody.
In XLP1-associated limbic encephalitis, anti-AMPAR autoantibody production by the dysregulated immune system due to SAP deficiency might be a pathogenic mechanism of central nervous system manifestations. In addition to the standard treatment for XLP1, targeted treatment against B-cell-mediated immunity might be indicated for patients with XLP1-associated limbic encephalitis.
A Pd/C-catalyzed chemoselective hydrogenation using diphenylsulfide as a catalyst poison has been developed. This methodology selectively hydrogenates olefin and acetylene functionalities without ...hydrogenolysis of aromatic carbonyls and halogens, benzyl esters, and N-Cbz protective groups.
Central-variant posterior reversible encephalopathy syndrome is an atypical subtype of posterior reversible encephalopathy syndrome that occurs during rapid fluctuations in blood pressure, leading to ...cerebrovascular autoregulatory failure and endothelial dysfunction. Few reports have described posterior reversible encephalopathy syndrome in infants. A 4-month-old girl, who was diagnosed a month before with hypoxic ischemic encephalopathy due to sudden cardiac arrest, showed persistent renovascular hypertension with a systolic blood pressure of 200 mmHg. Computed tomography of the head revealed a new-onset low-attenuation area in the bilateral basal ganglia, and computed tomography of the trunk revealed severe long-segment narrowing of the abdominal aorta encompassing the bilateral renal arteries. She was treated with antihypertensive drugs and peritoneal dialysis. Follow-up imaging after blood pressure stabilization showed resolution of the low-attenuation area in the bilateral basal ganglia. We diagnosed her basal ganglia lesions as central-variant posterior reversible encephalopathy syndrome. She suffered from neurological sequelae attributable to hypoxic ischemic encephalopathy but showed no evidence of basal ganglia dysfunction. Here, we report a case of infantile central-variant posterior reversible encephalopathy syndrome involving bilateral basal ganglia lesions with mid-aortic syndrome. The differential diagnosis of infantile symmetric bilateral basal ganglia lesions is broad and includes genetic, acquired metabolic or toxic, infectious, inflammatory, vascular, and neoplastic pathologies. Among them, central-variant posterior reversible encephalopathy syndrome is rare but important because neurological prognosis may be favorable, and specific treatment, such as administration of antihypertensive drugs or discontinuation of drugs that induce posterior reversible encephalopathy syndrome, is possible.
Background
Longstanding overt ventriculomegaly in adults (LOVA) is a new form of progressive hydrocephalus characterized by onset in early childhood and gradual progression into adulthood. Patients ...with LOVA are usually asymptomatic in childhood. The diagnosis of LOVA in adolescence has not been reported.
Case report
A patient with macrocephaly and mild ventriculomegaly from infancy developed headache exacerbation and cognitive dysfunction at the age of 11 years. Brain magnetic resonance imaging showed mild tri-ventriculomegaly with no radiological aggravation compared to imaging at the age of 8 years. No papilledema was observed. Drainage of 15 ml of spinal fluid via a lumbar puncture relieved the headache and cognitive dysfunction. Based on repeated improvements in cognitive function and headaches after spinal fluid drainage, we diagnosed the patient with LOVA with symptom onset in early adolescence. A ventriculoperitoneal shunt was placed, and the headaches disappeared completely. The full-scale intellectual quotient, verbal comprehension, and working memory improved significantly.
Conclusions
LOVA may manifest as early as adolescence. The clinical presentation, age, clinical, radiological features, and management vary, and a spinal tap exam is useful for diagnosing LOVA, even in children. The spinal tap exam may be indicated in children with longstanding ventriculomegaly and deteriorating neurological symptoms to diagnose this “treatable intellectual disability.”
Probst bundles are selectively seen in patients with agenesis of the corpus callosum (CC) and are thought to be homologous to the CC. We herein report a 19-year-old woman with partial agenesis of the ...CC. She developed acute encephalopathy during Bordetella pertussis infection. Brain magnetic resonance imaging (MRI) showed restricted diffusion of bilateral Probst bundles. She was treated with anti-epileptics and azithromycin and recovered with no neurological sequelae. Follow-up MRI showed the resolution of the diffusion abnormality. The characteristics of diffusion-weighted images on brain MRI and clinical course mimicked those in cases of clinically mild encephalopathy/encephalitis with reversible splenial lesion.
Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic ...causes of pigmentary mosaicism have been recently reported. Eleven unrelated individuals with pigmentary mosaicism (mostly hypopigmented skin) were recruited for this study. Skin punch biopsies of the probands and trio-based blood samples (from probands and both biological parents) were collected, and genomic DNA was extracted and analyzed by exome sequencing. In all patients, plausible monogenic causes were detected with somatic and germline variants identified in five and six patients, respectively. Among the somatic variants, four patients had
MTOR
variant (36%) and another had an
RHOA
variant. De novo germline variants in
USP9X
,
TFE3
, and
KCNQ5
were detected in two, one, and one patients, respectively. A maternally inherited
PHF6
variant was detected in one patient with hyperpigmented skin. Compound heterozygous
GTF3C5
variants were highlighted as strong candidates in the remaining patient. Exome sequencing, using patients’ blood and skin samples is highly recommended as the first choice for detecting causative genetic variants of pigmentary mosaicism.
While Pd/C is one of the most useful catalysts for hydrogenation, the high catalyst activity of Pd/C causes difficulty in its application to chemoselective hydrogenation between different types of ...reducible functionalities. In order to achieve chemoselective hydrogenation using Pd/C, we investigated catalyst poison as a controller of the catalyst activity. We found that the addition of Ph
2S (diphenylsulfide) to the Pd/C-catalyzed hydrogenation reaction mixture led to reasonable deactivation of Pd/C. By the use of the Pd/C–Ph
2S catalytic system, olefins, acetylenes, and azides can be selectively reduced in the coexistence of aromatic carbonyls, aromatic halides, cyano groups, benzyl esters, and
N-Cbz (benzyloxycarbonyl) protecting groups. The present method is promising as a general and practical chemoselective hydrogenation process in synthetic organic chemistry.
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The concentration of airborne cedar pollen particles and the level of cedar pollen allergen (Cry j1) were measured in 2-Japanese private houses. The samples were collected with gravitational ...settlement method and also with as 8stage-type Andersen sampler. During March through the beginning of April, the concentration of cedar pollen was 1.5-3.6grains/m3 in 2005, and 0.2-0.5grains/m3 in 2006. The allergen (cry j1) concentration was 15.9-23.2pg/m3 in 2005, and bellow 1.5-2.2pg/m3 in 2006. The intrusion rate of cedar pollen to private house indoor was estimated as 0.5%, calculating as ratio of indoor value/outdoor value. It was calculated that each ordinary indoor cedar pollen particle was corresponded to 6 pg of Cry j1 respectively.
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