Progressive conus medullaris lesions are suggestive of intravascular large B-cell lymphoma.

BACKGROUND AND PURPOSE: Spinal cord lesions are observed in 40% of all central nervous system lesions in intravascular large B-cell lymphoma (IVLBCL). However, because IVLBCL is a very rare disease, its clinical features are not well defined, which may delay appropriate diagnosis and treatment, whilst the acute to subacute course of brain lesions in patients with IVLBCL is well established. Therefore, this study aimed to clarify the clinical features of spinal cord lesions in patients with IVLBCL. METHODS: The medical records of patients with IVLBCL admitted to our hospital between 2010 and 2020 were searched. The inclusion criteria were preceding neurological symptoms without non-neurological symptoms and pathologically confirmed IVLBCL in various organs. Clinical features of spinal cord involvement in patients with IVLBCL were assessed and distinguished from those of brain involvement. RESULTS: Sixteen consecutive patients with IVLBCL were divided into two groups: six patients with spinal involvement (spinal cord type) and 10 patients with brain involvement (brain type). In the spinal cord type, four patients had chronic progression and two had subacute progression. Acute progression (0% vs. 80.0%) and sudden onset (0% vs. 50.0%) occurred significantly less frequently in the spinal cord than in the brain. All spinal cord lesions involved the conus medullaris. CONCLUSIONS: Spinal cord involvement in IVLBCL has a predominantly chronic progressive course that is exclusive to brain involvement. Conus medullaris lesions are suggestive of IVLBCL and are useful for early and accurate diagnosis and treatment.

[A case of anti-SRY-Related HMG-Box Gene 1 (SOX1) antibody-positive chorea].

A 77-year-old man with a history of lung cancer at the age of 71 developed involuntary right leg movement for a month. Neurological examination revealed a right-sided hemi-chorea. Autoimmune disease was suspected owing to the presence of oligoclonal bands and the elevated IgG-index in the cerebrospinal fluid. We detected anti-SRY-Related HMG-Box Gene 1 (SOX1) antibodies, known to be serological markers of Lambert-Eaton syndrome with small cell lung cancer, but not tumors. The results of tests for antiphospholipid, anti-LGI1, and anti-CASPR2 antibodies associated with non-paraneoplastic autoimmune chorea were all negative. This is the first suggestive case of autoimmune chorea in which anti-SOX1 antibodies were detected.

Endoscopic Management for Recurrent Hydrocephalus Associated with Neurosarcoidosis.

BACKGROUND: Recurrent hydrocephalus may occur as a complication of neurosarcoidosis with chronic inflammation. We present a case that required a combination of multistage endoscopic diversion of the cerebrospinal fluid pathway and shunt surgery. CASE DESCRIPTION: A 34-year-old man presented with progressive nausea and vomiting. Magnetic resonance imaging revealed hydrocephalus with leptomeningeal enhancement along the base of the fourth ventricle and the bilateral foramina of Luschka. Concurrent endoscopic third ventriculostomy and biopsy were performed. The diagnosis was neurosarcoidosis. Immediately after the procedure, the endoscopic third ventriculostomy stoma was occluded, and a right ventriculoperitoneal shunt was urgently performed. However, left unilateral hydrocephalus developed during the late phase of immunosuppressive therapy for neurosarcoidosis. Endoscopic septostomy with repositioning of the ventricular catheter was indicated. Intraoperative findings included a white pasty tissue with nodules that covered the ventricular wall close to the foramen of Monro and sealed the side holes of the catheter. Chemotherapy with a tumor necrosis factor-α inhibitor was initiated after the surgical procedure. The patient had an uneventful course without recurrence of hydrocephalus for >6 months. CONCLUSIONS: Endoscopic diversion of the cerebrospinal fluid pathway should be actively considered for treating hydrocephalus without a shunt and performing biopsy simultaneously. Even if a subsequent shunt is needed, complex hydrocephalus can be avoided with a combination of endoscopic techniques.

Thyrotoxicosis Presenting as Unilateral Drop Foot.

Neuromuscular disorders associated with hyperthyroidism have several variations in their clinical phenotype, such as ophthalmopathy, periodic paralysis, and thyrotoxic myopathy. We herein report an unusual case of thyrotoxic myopathy presenting as unilateral drop foot. Histopathological examinations of the left tibialis anterior muscle showed marked variation in the fiber size, mild inflammatory cell infiltration, and necrotic and regenerated muscle fibers with predominantly type 1 fiber atrophy. Medical treatment with propylthiouracil resulted in complete improvement of the left drop foot. This case expands the phenotype of thyrotoxicosis and suggests that thyrotoxicosis be considered as a possible cause of unilateral drop foot.

Vitamin D receptor and Alzheimer's disease: a genetic and functional study.

Genetic studies on late-onset Alzheimer's disease (AD) have repeatedly mapped susceptibility loci onto chromosome 12q13, encompassing the vitamin D receptor (VDR) gene. Epidemiology studies have indicated vitamin D insufficiency as a risk factor for AD. Given that VDR is the major mediator for vitamin D's actions, we sought to clarify the role of VDR in late-onset AD. We conducted an association study in 492 late-onset AD cases and 496 controls with 80 tagging single nucleotide polymorphisms (SNPs). The strongest association was found at a promoter SNP rs11568820 (P = 9.1 × 10(-6), odds ratio (OR) = 1.69), which resides within the transcription factor Cdx-2 binding site and the SNP has been also known as CDX2. The risk-allele at rs11568820 is associated with lower VDR promoter activity (p < 10(-11)). The overexpression of VDR or vitamin D treatment suppressed amyloid precursor protein (APP) transcription in neuroblastoma cells (p < 0.001). We provide both statistical evidence and functional data suggesting VDR confers genetic risk for AD. Our findings are consistent with epidemiology studies suggesting that vitamin D insufficiency increases the risk of developing AD.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

BACKGROUND: Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is characterised by autosomal recessive inheritance, severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, Pelger-Huët anomaly of leucocytes, and optic atrophy with loss of visual acuity and colour vision. This new syndrome is designated as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome. AIMS: To identify a causative gene for SOPH syndrome. METHODS: Genomewide homozygosity mapping was conducted in 33 patients in 30 families. RESULTS: The disease locus was mapped to the 1.1 Mb region on chromosome 2p24.3, including the neuroblastoma amplified sequence (NBAS) gene. Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. None of the 203 normal Yakuts individuals had this substitution in the homozygous state. Immunohistochemical analysis revealed that the NBAS protein is well expressed in retinal ganglion cells, epidermal skin cells, and leucocyte cytoplasm in controls as well as a patient with SOPH syndrome. CONCLUSION: These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly.

[A case of primary central nervous system malignant lymphoma developing from the optic chiasma and hypothalamus].

A 63-year-old woman was admitted to our hospital with a 1-month history of visual field defect and reduced bilateral visual acuity. Neurological examination revealed enlargement of bilateral central scotoma and blurred vision, and brain MRI showed masses in the optic chiasma and right hypothalamus on Ti-weighted image with contrast enhancement. Although the patient was treated with high-doses of methylprednisolone four times, the masses spread to the right internal capsule and the vicinity of the right lateral ventricle. An open biopsy was performed and microscopic examination of the sample revealed lymphoplasmacytic lymphoma. Although primary central nervous system lymphoma (PCNSL) developing from the optic chiasma and hypothalamus is rare, PCNSL should be considered in patients with multiple lesions in the optic chiasma and hypothalamus.

[Two cases of lumbosacral radiculopathy after intra-arterial infusion of cisplatin for treatment of uterine cancer].

A 60-year-old woman (case 1) experienced severe pain in the lower part of her leg and sciatic nerve paralysis the following day after intra-arterial infusion of cisplatin for the treatment of uterine body cancer. The symptoms gradually improved in the next six months. The lesion was not detected on pelvic MRI after two months. A 49-year-old woman (case 2) complained of severe pain in the lower part of her leg three days after intra-arterial infusion of cisplatin for the treatment of uterocervical cancer. Enhancement of the right first sacral root was demonstrated by the pelvic MRI. The symptoms gradually improved with the symptomatic therapy. To our knowledge, this is the first report of lumbo-sacral radiculopathy associated with intra-arterial infusion of cisplatin presenting the enhanced lesion in the root on MRI. It was suggested that lumbo-sacral radiculopathy induced by intra-arterial infusion of cisplatin is not a rare complication and that MRI is useful in confirming the diagnosis. Various precautions should be undertaken to prevent such complications.