KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

The KIF5A gene (OMIM 602821) encodes a neuron-specific kinesin heavy chain involved in intracellular transport of mitochondria and other cargoes. KIF5A protein comprises the N terminal motor domain, the stalk domain and the C-terminal cargo binding domain. The binding between KIF5A and its cargoes is mediated by kinesin adaptor proteins such as TRAK1 and TRAK2. Numerous missense KIF5A mutations in the motor and stalk domains cause spastic paraplegia type 10 (SPG10, OMIM 604187). Conversely, the role of loss-of-function mutations, especially those affecting the cargo binding domain, is unclear. We describe a novel de novo KIF5A p.Ser974fs/c.2921delC mutation found by whole exome sequencing in a patient with a congenital severe disease characterized by myoclonic seizures and progressive leukoencephalopathy. Since this phenotype differs considerably from the KIF5A/SPG10 disease spectrum we propose that the KIF5A p.Ser974fs and possibly other mutations which lead to truncation of the C-terminal tail of the protein cause a novel disorder. We speculate that the unique effect of the C-terminal truncating KIF5A mutations may result from the previously described complex role of this protein domain in binding of the TRAK2 and possibly other kinesin adaptor protein(s).

Angiocentric glioma from a perspective of A-B-C classification of epilepsy associated tumors.

Angiocentric glioma (AG) is a newly-classified, very rare, WHO grade I central nervous system (CNS) lesion, occurring usually in children and young adults. Only 52 patients with AG have been reported so far, making it one of the rarest neuropathological entities. Hereby we present two new cases of AG in young subjects with detailed neuropathological investigations and a neuroradiological picture along with a brief summary of all already published literature reports of this tumor. Histopathological examination of the resected tissue from both cases revealed similar changes characteristic of AG. The tumors were composed of spindle-like, elongated cells, forming characteristic pseudorosettes around vessels and diffusively infiltrating surrounding tissue, trapping neurons between tumor cells. Noticeably, some neoplastic cells encrusting vessels extended far beyond the main tumor mass. Hypothetically, this may be responsible for the recurrence of the tumor even in the case of apparently total excision. In immunohistochemistry, AG cells were glial fibrillary acidic protein (GFAP) and vimentin positive, also exhibiting a strikingly significant epithelial membrane antigen (EMA) dot-like staining pattern. In one of the cases, electron microscopy revealed ependymal differentiation features such as microvilli and cilia. Taken together, all these data strongly confirm a dual astroglial-ependymal nature of the tumor. Follow up corroborates benign character of this neoplasm. Both AGs reported here were immunonegative for the product of the mutated IDH-1 gene what, according to our best knowledge, has never been reported so far. It may suggest that in their pathogenesis AGs differ from grade II astrocytomas, which in most cases harbor a mutation of IDH-1. Noteworthy, neuroimaging in our cases was relatively characteristic but not conclusive, therefore biopsy (at least) is mandatory. A newly proposed so called "A-B-C" classification of long-term epilepsy-associated tumors (LEATs) places AG in a category named ANET. The authors shortly review the A-B-C classification of LEATs.

MR CSF Flow Examination as a Non-Invasive Method of Determining Shunt-Independent Hydrocephalus in Children with Implanted Ventriculoperitoneal Shunt. Preliminary Results.

UNLABELLED: The study discusses the value of MR examination of CSF flow through the cranial part of the ventriculoperitoneal shunt in the evaluation of shunt-dependent hydrocephalus. Sixteen patients aged eight to 18 years were examined in the course of many years of treatment using the ventriculoperitoneal shunt. No clinical manifestations of shunt obstruction had been observed in any of the patients prior to MR examination. A Signa Horizon 1.5T (GEMS) unit was used. Axial and sagittal T1- and T2-weighted images were performed to find the ventriculoperitoneal shunt canal. A 2D CINE/GR/PC sequence was performed in the plane perpendicular to the shunt canal. CSF-flow was calculated by the Flow Analysis program. Patients were divided into two groups: 1) no CSF-flow was noted in five children indicating shunt-independent hydrocephalus; 2) CSF-flow was present (average flow volume from 0.1 to 1.9 ml/min) in 11 children, distinguishing the group with shunt-dependent hydrocephalus. CONCLUSIONS: 1) MR CSF flow examination will establish the absence or presence of CSF flow and determine its direction and velocity. 2) With no clinical manifestations of shunt impatency the absence of flow in the shunt canal found in MR CSF flow examination may indicate shunt-independent hydrocephalus. 3) When the CSF flow in the shunt is found in MR shunt-dependent hydrocephalus is diagnosed.

Neuropsychological features of rapidly progressive dementia in a patient with an atypical presentation of Creutzfeldt-Jakob Disease.

BACKGROUND: Creutzfeldt-Jakob Disease (CJD) is a degenerative disease of the brain, characterized by rapid and irreversible decline, with dementia, ataxia, myoclonus, and other neurological and neurobehavioral disorders associated with rapidly progressive spongiform encephalopathy. The mode of transmission and basic pathomechanism remain unclear. The clinical picture of CJD is highly diverse, producing a number of variants. MATERIAL AND METHODS: The patient to be described is a 68-year-old Polish female, JR, clinically diagnosed with CJD. The article presents the case history in detail, with particular emphasis on neuropsychological testing, which was initiated when the patient was still lucid and capable of cooperation. The first presenting symptom was agraphia, followed by hemianopsia and other vision disorders, culminating in visual hallucinations. As the progress of the disease accelerated there was rapidly progressive dementia, aphasia developing to organic mutism, myoclonus, hyperkinesia, ultimately loss of all verbal contact or voluntary movement. RESULTS: JR's neuropsychological parameters declined in a period of less than 3 months from near normal to levels characteristic of severe dementia. CONCLUSIONS: The clinical picture here presented is consistent with that of the Heidenhain variant of CJD, with spongiform encephalopathy beginning in the right occipital lobe. Several features of the case remain atypical, however, including the absence of the most common genetic mutation and the patient's long survival after onset.

[Optimizing computed tomography diagnosis in retrobulbar orbit tumors]. / Optymalizacja diagnostyki tomografia komputerowa pozagalkowych guzów oczodolu.

CT is still one of the most commonly applied diagnostic procedure in cases of suspected neoplastic lesions in the retrobulbar region. Orbit tumors are rare, however due to their localisation close to the organ of sight, they make a serious clinical problem. The authors analysed retrospectively 127 tumors (interview, ophthalmological examination, CT, surgical procedure, histopathologic findings) with the aim of improving CT diagnostics.

[Computed tomography images of selected retrobulbar orbit tumors]. / Obrazy tomografii komputerowej wybranych, pierwotnych guzów pozagalkowych oczodolu.

Accurate evaluation of the retrobulbar orbit tumors and obtaining similar radiologic and histopathologic diagnosis are the most important for the therapeutic management. The authors analysed a group of 124 patients undergoing orbital CT exams and subsequently surgical procedure. They differentiated and described typical CT images of cavernous angioma, malignant lymphoma, optic glioma and dermoid cyst of orbit in correlation with the clinical data.

[Imaging of kidney fibro-lipomatosis]. / Diagnostyka obrazowa fibrolipomatozy nerek.

The purpose of this study is to promote a deeper understanding of problems connected with the issue of fibrolipomatosis among a large number of physicians. This pathology is of a great importance in the diagnostic process, both due to its high incidence rate, and to the fact that in some cases it imitates diseases that require surgical intervention. Kidney fibrolipomatosis is well-known to radiologists, but other specialists' knowledge of this pathology is rather limited. The prevalence of abdominal cavity US examinations, performed by various specialists, makes it necessary to draw physicians' attention to this disease.

[Congenital defects of the spinal cord and canal in neuroimaging]. / Wady rozwojowe kanalu i rdzenia kregowego w neuroobrazowaniu.

Authors present the clinical classification of spinal dysraphisms and discuss all imaging modalities useful in the diagnosis: conventional X-rays, myelography, computed tomography, myelo-CT and magnetic resonance imaging. They precise the place of ultrasound in the prenatal and postnatal imaging of spinal dysraphisms.

[Neurologic sequelae in severe carbon monoxide poisoning--case report]. / Nastepstwa neurologiczne ciezkiego zatrucia tlenkiem wegla--opis przypadku.

The symptoms and clinical course of severe acute poisoning with carbon monoxide in 22-years-old man is described. To evaluate neurological sequelae, magnetic resonance imaging (MRI) repeatedly was performed. In initial examination, at week 7 after intoxication, MRI showed bilateral abnormalities of the amygdaloid nucleus, caudate nucleus and in globus pallidus at right. Haemorrhagic lesion of internal capsule was shown 10 days later. In the next examinations regression in basal ganglia was observed, but slight atrophy of brain was stated. Neuropsychological examinations performed simultaneously, allowed to evaluate the dynamics of central nervous system disfunction.