The evaluation of cerebellum gross morphometric measurements in subjects having migraine, ataxia, dementia and vertigo / Evaluación de las medidas morfométricas macroscópicas del cerebelo en sujetos con migraña, ataxia, demencia, vértigo

SUMMARY: This paper was aimed to determine the morphometric measurements of cerebellum using MRI in subjects having migraine, ataxia, dementia and vertigo. Three hundred twenty six (326 subjects; 80 migraine subjects; 85 vertigo subjects; 83 dementia subjects; 78 ataxia subjects) subjects ranging from 20 up to 85 years were included in this study. Cerebellum morphometric measurements were taken from subjects having brain MRI in the Radiology Department. The means and standard deviations of the measurements were: Sagittal section cerebellum superior inferior length, 56.21±5.16 mm; sagittal section cerebellum anteroposterior length, 86.36 ±5.36 mm; axial section cerebellum antereoposterior length, 66.53±5.41 mm; axial section bi-cerebellar length, 100.48±5.14 mm; coronal section cerebellum supero-inferior length,53.60±3.84 mm; coronal section bi-cerebellar length, 99.77±6.24 mm in subjects with migraine, whereas the corresponding values were 62.33±8.66 mm; 93.31±9.89 mm; 60.26±7.98 mm; 99.89±6.41 mm; 54.35±4.64 mm; 85.58±14.74 mm in subjects with vertigo, respectively. The same values were found as 58.82±8.34 mm; 86.74±13.22 mm; 58.93±8.89 mm; 97.93±6.07 mm; 50.66±4.92 mm; 84.96±14.93 mm in patients having dementia, respectively, while the same measurements were as 60.83±8.59 mm; 92.18±9.12 mm; 57.76±7.85 mm; 97.71±5.82 mm; 52.48±4.85 mm; 81.49±14.38 mm in ataxia patients, respectively. Also, ages were divided into seven groups as decades. There were found significant difference in all parameters according to sex and ages (p<0.05). The cerebellum morphometry provides important and useful knowledge in terms of comparison of abnormalities clinicians and data will be valuable for the determination of pathologies for clinical disciplines.

RESUMEN: Este trabajo tuvo como objetivo determinar las medidas morfométricas del cerebelo mediante resonancia magnética en sujetos con migraña, ataxia, demencia y vértigo. Trescientos veintiseis sujetos (80 con migraña; 85 con vértigo; 83 con demencia y 78 con ataxia) entre los 20 y los 85 años de edad se incluyeron en este estudio. Se tomaron medidas morfométricas del cerebelo de sujetos sometidos a resonancia magnética en el Departamento de Radiología. Las medias y desviaciones estándar de las medidas fueron: sección sagital longitud superoinferior del cerebelo, 56,21±5,16 mm; sección sagital longitud anteroposterior del cerebelo, 86,36 ±5,36 mm; sección axial longitud anteroposterior del cerebelo, 66,53±5,41 mm; sección axial longitud bicerebelosa, 100,48±5,14 mm; sección coronal longitud superoinferior del cerebelo, 53,60±3,84 mm; longitud bicerebelosa de la sección coronal, 99,77±6,24 mm en sujetos con migraña, mientras que los valores correspondientes fueron 62,33±8,66 mm; 93,31±9,89mm; 60,26±7,98 mm; 99,89±6,41 mm; 54,35±4,64 mm; 85,58±14,74 mm en sujetos con vértigo, respectivamente. Se encontraron los mismos valores para pacientes con demencia 58,82±8,34 mm; 86,74±13,22 mm; 58,93±8,89 mm; 97,93±6,07 mm; 50,66±4,92 mm; 84,96±14,93 mm , respectivamente, mientras que las mismas medidas fueron de 60,83±8,59 mm; 92,18±9,12 mm; 57,76±7,85 mm; 97,71±5,82 mm; 52,48±4,85 mm; 81,49±14,38 mm en pacientes con ataxia, respectivamente. Las edades se dividieron en siete grupos, cada uno en década. Se encontraron diferencias significativas en todos los parámetros según sexo y edad (p<0,05). La morfometría del cerebelo proporciona un conocimiento importante y útil en términos de comparación de anormalidades clínicas y los datos serán valiosos para la determinación de patologías para las disciplinas clínicas.

Magnetic resonance spectroscopy features of the thalamus and the cerebellum and their association with clinical features in children with autism spectrum disorder: a prospective study / 中国当代儿科杂志

OBJECTIVES@#To study the changes in biochemical metabolites in the thalamus and the cerebellum and their association with clinical features in children with autism spectrum disorder (ASD).@*METHODS@#In this prospective study, magnetic resonance spectroscopy (MRS) with point-resolved spatial selection was used to analyze the thalamus and the cerebellum at both sides in 50 children with ASD aged 2-6 years. Creatine (Cr) was as the internal standard to measure the relative values of N-acetylaspartate (NAA)/Cr, choline (Cho)/Cr, myoinositol (MI)/Cr, and glutamine and glutamate complex (Glx)/Cr, and the differences in metabolites and their association with clinical symptoms were compared.@*RESULTS@#In the children with ASD, NAA/Cr in the left thalamus was positively correlated with the scores of hearing-language and hand-eye coordination in the Griffiths Development Scales-Chinese (@*CONCLUSIONS@#There are metabolic disorders in the cerebellum and the thalamus in children with ASD, and there is a correlation between the changes of metabolites in the left cerebellum and the left thalamus. Some metabolic indexes are related to the clinical symptoms of ASD. MRS may reveal the pathological basis of ASD and provide a basis for diagnosis and prognosis assessment of ASD as a noninvasive and quantitative detection method.

Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Accidente cerebrovascular bulbar lateral con trayecto extracraneal de la arteria cerebelosa póstero-inferior / Lateral medullary stroke with extracranial course of the postero- inferior cerebellar artery

Presentamos dos casos de accidente cerebrovascular en sujetos con trayecto extracraneal de la arteria cerebeloso póstero-inferior. Caso 1: varón de 21 años, quien presentó ataxia y dismetría derecha luego de un traumatismo cervical en un partido de rugby. Caso 2: mujer de 56 años, quien inició con vértigo y hemiparesia izquierda luego de esfuerzo físico intenso. En ambos casos, los estudios angiográficos mostraron un trayecto extracraneal de la arteria cerebelosa póstero-inferior. Este vaso raramente se origina por debajo del foramen magno, en relación cercana con las primeras tres vértebras cervicales y la articulación atlanto-axial. En este nivel, está expuesta a daño mecánico causante de disección, como por ejemplo trauma directo, manipulación cervical abrupta o extensión cefálica prolongada. Por lo tanto, en pacientes con accidente cerebrovascular de región lateral de bulbo y trayecto extracraneal de la arteria cerebelosa póstero-inferior se debería considerar esta asociación.

We present two cases of lateral medullary stroke in subjects with extracranial trajectory of the postero-inferior cerebellar artery. Case 1: a 21-year-old male who presented ataxia and right dysmetria after cervical trauma in a rugby match. Case 2: 56-year-old woman, who started with vertigo and left hemiparesis after intense physical effort. In both cases, the angiographic studies showed an extracranial trajectory of the posterior inferior cerebellar artery. This vessel rarely originates below the foramen magnum, in close relationship with the first three cervical vertebrae and the atlanto-axial joint. At this level, it is exposed to mechanical damage causing dissection, such as direct trauma, abrupt cervical manipulation or prolonged cephalic extension. Therefore, this association should be considered in patients with stroke of the lateral region of the bulb and extracranial trajectory of the posterior-inferior cerebellar artery.

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso / Language, behavior and neurodevelopment in Joubert syndrome: a case report

RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.

[Comparison of diagnostic value of fetal cerebellar hemisphere circumference measurement and routine ultrasonography parameters for determination of the gestational age]

Recently, ultrasonographic assessment of gestational age has assumed an integral role in prenatal care. The aim of this study was to compare the diagnostic value of fetal cerebellar hemisphere circumference measurement with those of other parameters of routine ultrasonography for estimation of gestational age. This was a descriptive and analytical study and included318 pregnant women with gestational ages of 14 to 41 weeks and distinct LMP in Imam Reza Hospital in Kermanshah. The parameters of BPD, HC, AC, FL, TCD and CHC were measured by Siemens G50 ultrasound system, and gestational age was estimated. Data were analyzed by Spearman correlation coefficient. SPSS 20 software was used for statistical analysis. Based on LMP, mean +/- SD of gestational age was 29.18 +/- 8.86.But considering the parameters of BPD, HC, AC, FL, TCD and CHC we found mean +/- SD of 28.94 +/- 8.96, 28.93 +/- 9.01, 28.76 +/- 8.96, 28.87 +/- 8.98, 28.88 +/- 9.01 and 28.76 +/- 8.99 weeks respectively. Spierman correlation coefficients between LMP and other parameters of routine ultrasonography were more than 0.99 and significantly were correlated with one another. Comparison of the diagnostic value of fetal cerebellar hemisphere circumference measurement with those of other parameters of routine ultrasonography for estimation of gestational age did not show any significant differences. We can use measurement of fetal cerebellar hemisphere circumference with other parameters of routine ultrasonography

Comparison of cerebellar volume between subjects with bilateral congenital blindness and healthy individuals / Comparación del volumen cerebelar entre individuos sanos y con ceguera bilateral congénita

Cerebellum regulates motor control and physical coordination. It is known that when eye and hand need to be worked in combination, cerebellum is active and it provides coordination between eye and hand. Cerebellar cortex atrophy appears with dismetry and saccadic eye movement. If there is no stimulant related to vision, how cerebellum is adopted under this circumstance? In order to explore this, 27 male and 16 female volunteers with bilateral congenital blindness were compared with 35 male and 33 female healthy volunteers in this study. MR images of cross-sectional sequential cerebellum of volunteers with 1.5 mm thickness were realized in coronal plane. The surface area of apparent cerebellum seen in cross-sections was calculated by using Onis (Ver. 2.1) programme. Surface area data obtained by systematic randomized sampling were converted to volume by Cavalieri method. Cerebellar volume of bilateral congenital blind male was 128.15 ± 11.11 cm3, and cerebellar volume of bilateral congenital blind female was 118.60 ±10.73 cm3. Cerebellar volume for healthy men and women were 132.89 ± 12.51 cm3 and 125.97 ± 10.78 cm3, respectively. It was revealed that cerebellar volume for bilateral congenital blind men was smaller than that of healthy men, but this difference was not significant. On the other hand cerebellar volume of bilateral congenital blind women was significantly smaller than that of healthy women (p<0.05). No asymmetry was detected between right and left side of cerebellum in both bilateral congenital blind and healthy subjects.

Cuando el ojo y la mano necesitan trabajar de manera combinada, el cerebelo se activa y proporciona la coordinación entre éstos. La atrofia de la corteza cerebelosa aparece con dismetría y movimientos oculares sacádicos. Si no hay estimulantes de la visión, ¿cómo se adapta el cerebelo en esta circunstancia? Se realizó un estudio con sujetos voluntarios, 27 hombres y 16 mujeres con ceguera congénita bilateral los cuales fueron comparados con 35 hombres y 33 mujeres sanas. Se realizó la toma de imágenes resonancia magnética, obteniendo secciones transversales del cerebelo de manera secuencial con espesor de 1,5 mm en el plano coronal. El área superficial aparente del cerebelo observada en las secciones ransversales se calculó mediante el uso del software Onis (Ver. 2,1). Los datos de superficie obtenidos mediante muestreo aleatorio sistemático fueron utilizados para calcular el volumen utilizando el método de Cavalieri. El volumen cerebelar bilateral de los hombres con cegera congénito fue 128,15±11,11 cm3 y mujeres fue 118,60±10,73 cm3. Los volumenes del cerebelo en hombres y mujeres sanos fueron 132,89±12,51 cm3 y 125,97±10,78 cm3, respectivamente. Se reveló que el volumen del cerebelo de los hombres con cegera bilateral congénita fue menor que el de los hombres sanos, pero esta diferencia no fue significativa. Por otro lado el volumen del cerebelo de las mujeres con cegera bilateral congénita fue significativamente menor que el de mujeres sanas (p <0,05). No se detectó asimetría entre el lado derecho e izquierdo del cerebelo, tanto en sujetos con cegera bilateral congénita como sujetos sanos.

Posterior fossa midline cryptococcoma in a patient with idiopathic CD4 lymphocytopenia.

Idiopathic CD4 lymphocytopenia (ICL) is a rare disorder which is often diagnosed as HIV-negative AIDS in the light of poor immunity and AIDS-defining illnesses. We present a case of a 50-year-old male who presented with a midline posterior fossa tumour with ICL diagnosed as cerebellar cryptococcoma.

Cerebellar vermian hypoplasia in a Cocker Spaniel

An eight-week-old female Cocker Spaniel was presented with ataxia, dysmetria and intention tremor. At 16 weeks, the clinical signs did not progress. Investigation including imaging studies of the skull and cerebrospinal fluid analysis were performed. The computed tomography revealed a cyst-like dilation at the level of the fourth ventricle associated with vermal defect in the cerebellum. After euthanasia, a cerebellar hypoplasia with vermal defect was identified on necropsy. A polymerase chain reaction amplification of cerebellar tissue revealed the absence of an in utero parvoviral infection. Therefore, the cerebellar hypoplasia in this puppy was consistent with diagnosis of primary cerebellar malformation comparable to Dandy-Walker syndrome in humans.

Amnesia syndrome following left anterior thalamic infarction; with intrahemispheric and crossed cerebro-cerebellar diaschisis on brain SPECT

We report a 61-year-old right-handed man developing disturbance of memory after a discrete thalamic infarction. Neuropsychological assessment revealed deficits in memory with retrograde and anterograde components, especially for verbal material. Brain MRI showed a left anterior thalamic infarction with normal angiographic findings. Despite the small lesion in the thalamus, he showed prolonged memory disturbance and a Brain SPECT image revealed decreased uptake in the ipsilateral fronto-temporo-parietal cortex and contralateral cerebellum. This diaschisis, a phenomenon caused by disconnection of the neural pathway helped us to evaluate the functional state of the patient and this imaging technique was valuable for obtaining to get more information for the evaluation of the neurological state and neuronal connections. In conclusion our findings correspond well with the understanding of amnesia as a disconnection syndrome because of the evidence of diaschisis on the Brain SPECT image.