GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.

We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had been dismissed as "clumsiness." Exam and electrodiagnostic testing suggested a predominately distal myopathy.

Primary diffuse leptomeningeal melanomatosis: Description and recommendations.

Primary melanocytic disease of the central nervous system is a rarely encountered condition currently without consensus on treatment and lacking major guidelines for management. Understanding the nature of the disease and differentiating primary melanocytic disease from the much more commonly encountered secondary (metastatic) melanoma is important in identifying the condition and pursuing appropriate treatment.

Blood-brain barrier-adapted precision medicine therapy for pediatric brain tumors.

Targeted chemotherapeutics provide a promising new treatment option in neuro-oncology. The ability of these compounds to penetrate the blood-brain barrier is crucial for their successful incorporation into patient care. "CNS Targeted Agent Prediction" (CNS-TAP) is a multi-institutional and multidisciplinary translational program established at the University of Michigan for evaluating the central nervous system (CNS) activity of targeted therapies in neuro-oncology.

Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma.

Pediatric spinal oligodendrogliomas are rare and aggressive tumors. They do not share the same molecular features of adult oligodendroglioma, and no previous reports have examined the molecular features of pediatric spinal oligodendroglioma. We present the case of a child with a recurrent spinal anaplastic oligodendroglioma.

Resolution of innumerable cerebral Nocardia paucivorans abscesses after medical management.

Nocardia species are an infrequent cause of brain abscesses. We report a 50-year-old man with Nocardia paucivorans cerebral abscesses. Brain MRI revealed innumerable small ring-enhancing lesions.

Skull fracture mimicking eosinophilic granuloma.

Background: Delayed swelling after skull fractures is an uncommon complication following head trauma in children. Classically, growing skull fractures typically present in patients under 3 years of age with progressive subcutaneous fluid collections, or occasionally with neurologic symptoms. We present the case of a healthy 2-year-old boy with a lytic "punched-out" frontal skull lesion.

Radiation-induced intradural malignant peripheral nerve sheath tumor of the cauda equina with diffuse leptomeningeal metastasis.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare, affecting only a small portion of the general population. In many cases, MPNSTs occur in association with neurofibromatosis Type 1 and at times arise secondary to previous radiation therapy (RT). These tumors can be found essentially anywhere a peripheral nerve is present, but they rarely originate primarily from the spinal nerve or cauda equina and cause leptomeningeal spread.

Symptomatic calcified perineural cyst after use of bone morphogenetic protein in transforaminal lumbar interbody fusion: a case report.

Background Context: Human recombinant bone morphogenetic protein-2 (BMP-2) is commonly used in spinal surgery to augment arthrodesis, and a number of potential complications have been documented.

Purpose: To present the case of a delayed radiculopathy that occurred because of a calcified perineural cyst that formed after an L4-L5 transforaminal lumbar interbody fusion (TLIF) in which BMP-2 was used.

Study Design/setting: Case report of a 70-year-old man presented with back and right lower extremity pain.

Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.

Introduction: We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness.

Methods: Case report.

Results: Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy.

Pathologic basis of central nervous system infections.

Radiology provides valuable gross pathologic information about central nervous system (CNS) infections. Major categories of infectious lesions of the brain and spinal cord are recognized by imaging such as diffuse, focal, or multifocal. This article discusses the pathologic basis of these radiographic findings.

External and internal influences on muscle pathology.

Three cases of different types of neuromuscular diseases demonstrate different muscle responses to external stress or intrinsic muscle abnormalities. The first muscle biopsy shows stenosis of its vessels causing acute muscle ischemia, stress from an external vascular disease. The muscle response is similar to the cellular necrosis seen in primary muscle diseases (myopathies), but the histologic pattern is more focal than most myopathies.

Tumorigenic cells are common in mouse MPNSTs but their frequency depends upon tumor genotype and assay conditions.

Tumor-initiating cells have been suggested to be rare in many cancers. We tested this in mouse malignant peripheral nerve sheath tumors (MPNSTs) and found that 18% of primary and 49% of passaged MPNST cells from Nf1(+/-); Ink4a/Arf(-/-) mice formed tumors upon transplantation, whereas only 1.8% to 2.

Spontaneous resolution of an infantile hemangioma in a dorsal root ganglion.

Infantile hemangiomas are tumors commonly seen in children. Few authors have reported infantile hemangiomas affecting the CNS, and there are no prior reports detailing spontaneous resolution of a histologically proven juvenile hemangioma within a dorsal root ganglion. The authors report the case of a newborn boy with a large cutaneous hemangioma in the midline of his back.

Langerhans cell histiocytosis of the optic chiasm: case report.

Background And Importance: Langerhans cell histiocytosis (LCH) is an uncommon disease, usually affecting the cranium and peripheral bones. We present a rare case of isolated optic chiasm involvement by LCH to highlight the importance of considering LCH in the differential diagnosis of optic chiasm lesions.

Clinical Presentation: A 71-year-old woman presented with a 6-week history of worsening peripheral vision, headaches, weakness, cold sensitivity, and fatigue.

Expression of mutant p53 proteins implicates a lineage relationship between neural stem cells and malignant astrocytic glioma in a murine model.

Recent studies have identified genes and core pathways that are altered in human glioblastoma. However, the mechanisms by which alterations of these glioblastoma genes singly and cooperatively transform brain cells remain poorly understood. Further, the cell of origin of glioblastoma is largely elusive.

The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells.

Neurofibromatosis is caused by the loss of neurofibromin (Nf1), leading to peripheral nervous system (PNS) tumors, including neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs). A long-standing question has been whether these tumors arise from neural crest stem cells (NCSCs) or differentiated glia. Germline or conditional Nf1 deficiency caused a transient increase in NCSC frequency and self-renewal in most regions of the fetal PNS.

Papilledema in obstructive hydrocephalus caused by giant cell astrocytoma of tuberous sclerosis.

A 5-year-old girl with progressive hemiparesis and headache was found by brain imaging to have a large tumor centered at the foramen of Monro, blocking cerebrospinal outflow and producing massive lateral ventriculomegaly. Total excision of the mass led to a pathologic diagnosis of giant cell astrocytoma. Dermatologic abnormalities had been detected shortly after birth but were unexplained.

Differentiation of recurrent brain tumor versus radiation injury using diffusion tensor imaging in patients with new contrast-enhancing lesions.

Background And Purpose: The purpose of this study was to assess the use of diffusion tensor imaging (DTI) in the evaluation of new contrast-enhancing lesions and perilesional edema in patients previously treated for brain neoplasm in the differentiation of recurrent neoplasm from treatment-related injury.

Methods: Twenty-eight patients with new contrast-enhancing lesions and perilesional edema at the site of previously treated brain neoplasms were retrospectively reviewed. Nine directional echoplanar DTIs with b=1000 s/mm(2) were obtained using a single-shot spin-echo echoplanar imaging.

Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review.

The peripheral primitive neuroectodermal tumor/Ewing's sarcoma family tumor (pPNET/ESFT) group includes small round cell tumors of the bone, soft tissue, and nerve with morphological attributes of the germinal neuroepithelium. Peripheral PNETs/ESFTs also occur within the craniospinal vault, a region including the central nervous system, the meninges, and the cranial and spinal nerve roots. Gene rearrangements between the EWS gene on chromosome 22q12 and members of the ETS gene family are common in and specific to pPNETs/ESFTs.

A methodology for registration of a histological slide and in vivo MRI volume based on optimizing mutual information.

We present a method for registering histology and in vivo imaging that requires minimal microtoming and is automatic following the user's initialization. In this demonstration, we register a single hematoxylin-and-eosin-stained histological slide of a coronal section of a rat brain harboring a 9L gliosarcoma with an in vivo 7T MR image volume of the same brain. Because the spatial resolution of the in vivo MRI is limited, we add the step of obtaining a high spatial resolution, ex vivo MRI in situ for intermediate registration.

The functional diffusion map: an imaging biomarker for the early prediction of cancer treatment outcome.

Functional diffusion map (fDM) has been recently reported as an early and quantitative biomarker of clinical brain tumor treatment outcome. This approach spatially maps and quantifies treatment-induced changes in tumor water diffusion values resulting from alterations in cell density/cell membrane function and microenvironment. This current study was designed to evaluate the capability of fDM for preclinical evaluation of dose escalation studies and to determine if these changes were correlated with outcome measures (cell kill and overall survival).

Hemangiomas of the geniculate ganglion.

Objective: To describe the presentation, evaluation, and management of patients with geniculate ganglion hemangioma.

Study Design: Retrospective case review.

Setting: Tertiary-care academic medical center.

Linear magnetic resonance enhancement and optic neuropathy in primary angiitis of the central nervous system.

A 38-year-old woman developed incoherent mentation, tremor, ataxia, and bilateral optic disc edema with mildly depressed visual acuity, nerve fiber bundle defects, and a left afferent pupillary defect. Magnetic resonance imaging of the brain disclosed striking linear contrast enhancement radiating from the ventricular borders. Lumbar puncture showed a normal opening pressure with a lymphocytic pleocytosis and elevated protein.

Differential expression of cytokeratins 8 and 20 distinguishes craniopharyngioma from rathke cleft cyst.

Background: Craniopharyngiomas are epithelial neoplasms usually located in the sellar and suprasellar regions. Distinguishing craniopharyngioma from Rathke cleft cyst is sometimes difficult, and the distinction is clinically significant because Rathke cleft cysts have a better prognosis than craniopharyngiomas.

Design: We retrieved 10 cases with a primary diagnosis of craniopharyngioma and 5 cases with a diagnosis of Rathke cleft cyst for analysis.

Angiotropic large cell lymphoma with imaging characteristics of CNS vasculitis.

This report documents a case of angiotropic large cell lymphoma (ALCL) with imaging characteristics of CNS vasculitis. A 47-year-old man was unresponsive after a 5-month progression of neurologic deterioration and intermittent fevers. MR imaging revealed multiple areas of abnormally increased T2 signal intensity in the cerebral cortex and subcortical white matter.