neuroimaging changes in menkes disease part 1

SUMMARY: Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease

EUNIS Habitat Classification: Expert system, characteristic species combinations and distribution maps of European habitats

Aim: The EUNIS Habitat Classification is a widely used reference framework for European habitat types (habitats), but it lacks formal definitions of individual habitats that would enable their unequivocal identification. Our goal was to develop a tool for assigning vegetation‐plot records to the habitats of the EUNIS system, use it to classify a European vegetation‐plot database, and compile statistically‐derived characteristic species combinations and distribution maps for these habitats. Location: Europe. Methods: We developed the classification expert system EUNIS‐ESy, which contains definitions of individual EUNIS habitats based on their species composition and geographic location. Each habitat was formally defined as a formula in a computer language combining algebraic and set‐theoretic concepts with formal logical operators. We applied this expert system to classify 1,261,373 vegetation plots from the European Vegetation Archive (EVA) and other databases. Then we determined diagnostic, constant and dominant species for each habitat by calculating species‐to‐habitat fidelity and constancy (occurrence frequency) in the classified data set. Finally, we mapped the plot locations for each habitat. Results: Formal definitions were developed for 199 habitats at Level 3 of the EUNIS hierarchy, including 25 coastal, 18 wetland, 55 grassland, 43 shrubland, 46 forest and 12 man‐made habitats. The expert system classified 1,125,121 vegetation plots to these habitat groups and 73,188 to other habitats, while 63,064 plots remained unclassified or were classified to more than one habitat. Data on each habitat were summarized in factsheets containing habitat description, distribution map, corresponding syntaxa and characteristic species combination. Conclusions: EUNIS habitats were characterized for the first time in terms of their species composition and distribution, based on a classification of a European database of vegetation plots using the newly developed electronic expert system EUNIS‐ESy. The data provided and the expert system have considerable potential for future use in European nature conservation planning, monitoring and assessment

GrassPlot - a database of multi-scale plant diversity in Palaearctic grasslands

GrassPlot is a collaborative vegetation-plot database organised by the Eurasian Dry Grassland Group (EDGG) and listed in the Global Index of Vegetation-Plot Databases (GIVD ID EU-00-003). GrassPlot collects plot records (releves) from grasslands and other open habitats of the Palaearctic biogeographic realm. It focuses on precisely delimited plots of eight standard grain sizes (0.0001; 0.001;... 1,000 m(2)) and on nested-plot series with at least four different grain sizes. The usage of GrassPlot is regulated through Bylaws that intend to balance the interests of data contributors and data users. The current version (v. 1.00) contains data for approximately 170,000 plots of different sizes and 2,800 nested-plot series. The key components are richness data and metadata. However, most included datasets also encompass compositional data. About 14,000 plots have near-complete records of terricolous bryophytes and lichens in addition to vascular plants. At present, GrassPlot contains data from 36 countries throughout the Palaearctic, spread across elevational gradients and major grassland types. GrassPlot with its multi-scale and multi-taxon focus complements the larger international vegetationplot databases, such as the European Vegetation Archive (EVA) and the global database " sPlot". Its main aim is to facilitate studies on the scale-and taxon-dependency of biodiversity patterns and drivers along macroecological gradients. GrassPlot is a dynamic database and will expand through new data collection coordinated by the elected Governing Board. We invite researchers with suitable data to join GrassPlot. Researchers with project ideas addressable with GrassPlot data are welcome to submit proposals to the Governing Board

A case of neonatal onset leucoencefalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression

Objective To present a case of LBSL with neonatal onset and with rapid progression and to review the literature focused on LBSL with early onset (before one year of age). Methods We report a case of an infant admitted at our Child Neurology Unit in November 2014 with LBSL, investigated with blood and cerebrospinal spinal fluid (CSF) tests, brain and spinal magnetic resonance imaging (MRI). Results The patient was admitted at our hospital at 2 months of age because of severe hypotonia. She had regular antenatal and perinatal story. At birth physical and neurological examination were normal. At two weeks of age nystagmus was noticed and after few weeks, she started to be hyporeactive and hypotonic. At our examination she had severe and diffuse hypotonia, brisk reflex at legs and nystagmus. CSF examination showed an increased lactate (7.4 mmol/L, range 1.2–2.2 mmol/L). Cerebral (including spectroscopy) and spinal MRI showed changes in white matter consistent with LBSL. Two weeks later she developed respiratory arrest and needed mechanical ventilatory support. Steroid therapy was administered without results. Genetic test is in progress. Conclusion LBSL is a rare disease described for the first time in 2003 by Van der Knaap et al. as a mild disorder with childhood and adolescent onset and slow progression. In the Literature we found two cases with neonatal onset, rapid deterioration and death respectively at 2 and 3 year of age and 16 cases with onset before 12 months (mean 8 months) and early death in 6/16 cases. We add to the pertinent literature a new case of LBSL with neonatal onset having a rapid and deteriorating course. This condition should be suspected in neonates or infants with leukoencephalopathy on brain MRI and lactic acidosis in CSF. Spinal MRI and specific genetic tests are needed to confirm the diagnosis

A case of neonatal onset leucoencefalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression.

Objective To present a case of LBSL with neonatal onset and with rapid progression and to review the literature focused on LBSL with early onset (before one year of age). Methods We report a case of an infant admitted at our Child Neurology Unit in November 2014 with LBSL, investigated with blood and cerebrospinal spinal fluid (CSF) tests, brain and spinal magnetic resonance imaging (MRI). Results The patient was admitted at our hospital at 2 months of age because of severe hypotonia. She had regular antenatal and perinatal story. At birth physical and neurological examination were normal. At two weeks of age nystagmus was noticed and after few weeks, she started to be hyporeactive and hypotonic. At our examination she had severe and diffuse hypotonia, brisk reflex at legs and nystagmus. CSF examination showed an increased lactate (7.4 mmol/L, range 1.2–2.2 mmol/L). Cerebral (including spectroscopy) and spinal MRI showed changes in white matter consistent with LBSL. Two weeks later she developed respiratory arrest and needed mechanical ventilatory support. Steroid therapy was administered without results. Genetic test is in progress. Conclusion LBSL is a rare disease described for the first time in 2003 by Van der Knaap et al. as a mild disorder with childhood and adolescent onset and slow progression. In the Literature we found two cases with neonatal onset, rapid deterioration and death respectively at 2 and 3 year of age and 16 cases with onset before 12 months (mean 8 months) and early death in 6/16 cases. We add to the pertinent literature a new case of LBSL with neonatal onset having a rapid and deteriorating course. This condition should be suspected in neonates or infants with leukoencephalopathy on brain MRI and lactic acidosis in CSF. Spinal MRI and specific genetic tests are needed to confirm the diagnosis

Skull fractures in the first year of life: comparing history and imaging

none6noneF. Menegazzo; R. Mardari; L. Dal Zotto; M. Rosa Rizzotto; C. Ranzato; P. FacchinF., Menegazzo; R., Mardari; L., Dal Zotto; ROSA RIZZOTTO, Melissa; C., Ranzato; Facchin, Paol

Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia

Objective: The introduction of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy calls for reevaluation of the prognostic role of somatosensory evoked potentials (SEPs). Methods: Among 80 consecutive neonates undergoing hypothermia for hypoxic-ischemic encephalopathy, 58 performed SEPs and MRI at 4–14 days of life and were recruited in this multicenter study. SEPs were scored as: 0 (bilaterally/unilaterally recorded N20) or 1 (bilaterally absent N20). The severity of brain injury was scored using MRI. Results: Bilaterally absent N20 was observed in 10/58 neonates (17%); all had moderate/severe MRI abnormalities; 36/48 neonates (75%) with score 0 at SEPs had normal MRI. The positive predictive value of SEPs on MRI outcome was of 1.00, while the negative predictive value 0.72, sensitivity 0.48, specificity 1.00, with an accuracy of 0.78 (p < .001). Conclusions: Bilateral absence of cortical SEPs predicts moderate/severe MRI pattern of injury. Significance: Therapeutic hypothermia does not seem to significantly affect prognostic reliability of SEP