Cauda equina syndrome due to posttraumatic syringomyelia in conus medullaris - A case report.

Background: Most posttraumatic syringomyelias occur in the cervical or thoracic spinal cord, where they contribute to myelopathic deficits. Here, a 40-year-old patient presented with the left leg monoparesis due to syringomyelia involving the conus medullaris 10 years after an L2 vertebral "crush" fracture. Case Description: Ten years following an L2 vertebral "crush" fracture, a 40-year-old male presented with the new onset of left lower leg paresis. The magnetic resonance imaging showed a T12-L1 syrinx associated with accompanying high-intensity areas above the syrinx located between the T11 and T12 levels. One month after placing a syringosubarachnoid (SS) shunt, both the syrinx and high-intensity area rapidly disappeared, and the left distal motor weakness resolved. Conclusion: Ten years following an L2 "crush" fracture, a 40-year-old male presented with the new onset of a cauda equina syndrome secondary to a posttraumatic T12-L1 syringomyelia causing expansion of the conus medullaris.

Pituitary lymphoma appearing 9 years after pituitary adenoma resection.

Background: Pituitary lymphomas (PLs) are very rare, accounting for <0.1% of all intracranial tumors. Of which, PL that is associated with PL is even rarer. Here, we describe a case of PL of a 51-year-old woman that appeared 9 years after pituitary adenoma resection. Case Description: A 51-year-old woman presented with visual disturbance. She had a history of pituitary adenoma resected through endoscopic trans-sphenoidal surgery (eTSS) 9 years before. Although her previous annual follow-up did not show any signs of recurrence, she noticed visual disturbance. One month later, her visual acuity rapidly worsened with headache and fatigue, being referred to our hospital. On examination, she had bilateral quadrantanopia. Her laboratory data showed slightly increased prolactin levels. Magnetic resonance images showed a mass in the sella with suprasellar extension, so she underwent eTSS. The tumor had a fibrous, hard part and a soft gray part, and it was mostly resected. Visual symptoms improved transiently, but ophthalmoplegia appeared 2 weeks after surgery, indicating intrathecal dissemination. Histological analysis confirmed the diagnosis of T-lymphoblastic lymphoma. Positron emission tomography showed tracer accumulation at the pancreas, confirmed as lymphoma through biopsy. However, we could not determine which site of lymphoma was the primary site. She underwent chemotherapy, including cyclophosphamide, vincristine sulfate, doxorubicin hydrochloride, dexamethasone, and methotrexate. The patient died despite several months of treatment. Conclusion: Recurrence of pituitary adenoma cannot be carelessly assumed from a pituitary growing mass after pituitary adenoma resection. PLs have poor prognosis due to their aggressive character. Immediate biopsy and confirmation of the diagnosis are necessary for the treatment of pituitary masses with aggressive features.

Resolution of white matter hyperintensity after surgical revascularization in moyamoya disease - A report of three cases.

Background: Moyamoya disease often presents white matter hyperintensity (WMH) lesions on fluid-attenuated inversion recovery (FLAIR) images, which is generally accepted as irreversible. We, herein, describe three cases of moyamoya disease with WMH lesions that regressed or disappeared after surgical revascularization. Case Description: This report included two pediatric and one young adult case that developed transient ischemic attacks or ischemic stroke due to bilateral Moyamoya disease. Before surgery, five of their six hemispheres had WMH lesions in the subcortical and/or periventricular white matter on FLAIR images. The lesions included morphologically two different patterns: "Striated" and "patchy" morphology. In all of them, combined bypass surgery was successfully performed on both sides, and no cerebrovascular events occurred during follow-up periods. On follow-up magnetic resonance examinations, the "striated" WMH lesions completely disappeared within six months, while the "patchy" WMH lesions slowly regressed over 12 months. Conclusion: Based on radiological findings and the postoperative course of the WMH lesions, the "striated" WMH lesions may represent the inflammation or edema along the neuronal axons due to cerebral ischemia, while the "patchy" WMH lesions may represent vasogenic edema in the white matter through the blood-brain barrier breakdown. Earlier surgical revascularization may resolve these WMH lesions in Moyamoya disease.

A case of inflammatory myofibroblastic tumor harboring EML4-ALK fusion with a brain metastasis responding to alectinib.

Metastatic inflammatory myofibroblastic tumor (IMT) is very rare and detailed reports on diagnosis and treatment are limited. Here, we report a case of metastatic IMT with ALK rearrangement. A 73-year-old woman was diagnosed with IMT involving a brain metastasis. Next generation sequencing (NGS) panel testing with Oncomine dx target test revealed that her tumor was positive for EML4-ALK. Treatment with alectinib was initiated, resulting in remarkable shrinkage of both the primary tumor and the brain metastasis. This report is the first to identify ALK rearrangement in IMT using a commercially available NGS panel testing, followed by treatment with alectinib. This case suggests that NGS panel testing may be useful in the diagnosis and treatment of patients with metastatic IMT.

Oro-mandibular dystonia in pediatric moyamoya disease: Two cases report.

BACKGROUND: In this report, we describe rare two pediatric cases that developed oro-mandibular dystonia due to moyamoya disease. CASE DESCRIPTION: A 7-year-old boy presented with oro-mandibular dystonia and transient weakness of the left extremities, and was diagnosed as moyamoya disease. Another 7-year-old boy developed oro-mandibular dystonia alone and was diagnosed as moyamoya disease. In both, cerebral blood flow (CBF) was markedly decreased in the involved hemispheres, including the basal ganglia and cerebral cortex. They successfully underwent combined bypass surgery and experienced no further attacks of oromandibular dystonia during follow-up periods. CBF almost normalized through surgical collaterals through direct and indirect bypass. CONCLUSION: When treating patients with oro-mandibular dystonia, moyamoya disease should be listed as one of the differential diseases. The underlying mechanism of oro-mandibular dystonia in moyamoya disease is still unclear, but persistent cerebral ischemia in the basal ganglia and/or parietal lobe may play a key role to induce this rare symptom.

Neural stem cell-specific ITPA deficiency causes neural depolarization and epilepsy.

Inosine triphosphate pyrophosphatase (ITPA) hydrolyzes inosine triphosphate (ITP) and other deaminated purine nucleotides to the corresponding nucleoside monophosphates. In humans, ITPA deficiency causes severe encephalopathy with epileptic seizure, microcephaly, and developmental retardation. In this study, we established neural stem cell-specific Itpa-conditional KO mice (Itpa-cKO mice) to clarify the effects of ITPA deficiency on the neural system. The Itpa-cKO mice showed growth retardation and died within 3 weeks of birth. We did not observe any microcephaly in the Itpa-cKO mice, although the female Itpa-cKO mice did show adrenal hypoplasia. The Itpa-cKO mice showed limb-clasping upon tail suspension and spontaneous and/or audiogenic seizure. Whole-cell patch-clamp recordings from entorhinal cortex neurons in brain slices revealed a depolarized resting membrane potential, increased firing, and frequent spontaneous miniature excitatory postsynaptic current and miniature inhibitory postsynaptic current in the Itpa-cKO mice compared with ITPA-proficient controls. Accumulated ITP or its metabolites, such as cyclic inosine monophosphates, or RNA containing inosines may cause membrane depolarization and hyperexcitability in neurons and induce the phenotype of ITPA-deficient mice, including seizure.

Intracranial, Intra-parenchymal Capillary Hemangioma - Case Report.

We report a very rare case of intracranial capillary hemangioma. This 15-year-old girl complained of pulsating headache in the temple area that aggravated with change of body positions. This headache usually lasted for 5 min and resolved without any treatment. Preoperative computed tomography (CT) and magnetic resonance imaging (MRI) strongly suggested cavernous hemangioma in the right deep parietal lobe. She underwent complete resection of the tumor through right parietal craniotomy. Postoperative course was uneventful. Histologic examinations demonstrated a densely grown numerous capillary-like vascular structure with endothelial cells, hemosiderin deposition, and hemorrhage. Intracranial, intra-parenchymal capillary hemangioma is a very rare vascular tumor or tumor like lesions. Only four cases with intracranial, intra-parenchymal capillary hemangioma were reported previously. Differential diagnosis includes other vascular tumors such as cavernous hemangioma, but it is not so easy to differentiate capillary hemangioma from other lesions. Therefore, surgical excision and histologic diagnosis would be important to diagnose it if possible.

Phase II trial of weekly nab-paclitaxel for previously treated advanced non-small cell lung cancer: Kumamoto thoracic oncology study group (KTOSG) trial 1301.

OBJECTIVES: We performed an open-label, multicenter, single-arm phase II study (UMIN ID 000010532) to prospectively evaluate the efficacy and safety of nab-paclitaxel for previously treated patients with advanced non-small cell lung cancer (NSCLC). METHODS: Patients with advanced NSCLC who experienced failure of prior platinum-doublet chemotherapy received weekly nab-paclitaxel (100mg/m(2)) on days 1, 8, and 15 of a 21-day cycle until disease progression or the development of unacceptable toxicity. The primary end point of the study was objective response rate (ORR). RESULTS: Forty-one patients were enrolled between September 2013 and April 2015. The ORR was 31.7% (90% confidence interval, 19.3%-44.1%), which met the primary objective of the study. Median progression-free survival was 4.9 months (95% confidence interval, 2.4-7.4 months) and median overall survival was 13.0 (95% confidence interval, 8.0-18.0 months) months. The median number of treatment cycles was four (range, 1-17) over the entire study period, and the median dose intensity was 89.1mg/m(2) per week. Hematologic toxicities of grade 3 or 4 included neutropenia (19.5%) and leukopenia (17.1%), with no cases of febrile neutropenia being observed. Individual nonhematologic toxicities of grade 3 or higher occurred with a frequency of <5%. CONCLUSION: Weekly nab-paclitaxel was associated with acceptable toxicity and a favorable ORR in previously treated patients with advanced NSCLC. Our results justify the undertaking of a phase III trial comparing nab-paclitaxel with docetaxel in this patient population.