Nervous system involvement in Pfeiffer syndrome.

Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.

Physical Signs and Clinical Features of Cervical Myelopathy in Elderly Patients, Especially 80 Years or Older: Comparison of 100 Consecutive Operative Cases across Three Age Groups.

STUDY DESIGN: Retrospective cohort study. PURPOSE: The present study aimed to examine the characteristics of physical signs in elderly patients with cervical myelopathy (CM) and to compare the findings in three different age groups. OVERVIEW OF LITERATURE: As the global population ages, the incidence of CM in elderly patients is increasing. METHODS: We evaluated 100 consecutive surgical patients with CM and divided them into the following groups: 80s (34 patients; mean age, 83.9 years), 70s (33 patients; mean age, 73.9 years), and 69 or younger (33 patients; mean age, 60.9 years). The clinical symptoms and physical signs were evaluated and recorded. RESULTS: Although the recovery rate decreased with increasing age, all groups demonstrated a significant improvement in clinical symptoms relative to preoperative values. The Hoffman sign and hyperreflexia of the triceps tendon were, respectively, present in 82% and 88% of patients in the 80s group, 74% and 64% of those in the 70s group, and 69% and 82% of those in the 69 or younger group, with no significant difference among the groups. In contrast, the rates of hyperreflexia of the patellar and Achilles tendons were, respectively, 59% and 32% in the 80s group, 85% and 48% in the 70s group, and 91% and 70% in the 69 or younger group, with significant differences. CONCLUSIONS: The positivity rate of the lower extremity hyperreflexia decreased significantly with increasing age in patients with CM. The absence of hyperreflexia, particularly lower extremity, is not uncommon in elderly patients with suspected CM.

Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature.

Introduction: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fractures and low bone mass. Recently, mutations of the WNT1 gene have been reported to be causative in OI. The mutation in WNT1 causes autosomal-recessive OI due to its critical role in bone formation. WNT1 mutations cause varying degrees of clinical severity, ranging from moderate to progressively deforming forms. In addition to the OI phenotype, our cases also had extra-skeletal findings. Case Presentation: We describe two siblings with multiple fractures and developmental delay. A novel homozygous frameshift WNT1 mutation was detected in this family, and we reviewed the literature for WNT1-related OI cases. Discussion: We report a novel variant with a clinical diagnosis of severe OI, and this review will provide a comprehensive overview of previously published cases of OI type XV. With a better understanding of disorders associated with WNT1 mutations, therapies targeting Wnt1 signaling pathway may contribute therapeutic benefits.

Factors associated with an excellent outcome after conservative treatment for patients with proximal cervical spondylotic amyotrophy using electrophysiological, neurological and radiological findings.

Objective: To investigate factors associated with excellent outcomes after conservative treatment in patients with proximal cervical spondylotic amyotrophy (CSA) using electrophysiological, radiological, and neurological findings. Design: Retrospective study. Setting: Yamaguchi University Hospital. Participants: Seventy-seven patients. Interventions: Erb-point-stimulated compound muscle action potentials (CMAP) were recorded in deltoid and biceps. The percentages of CMAP amplitudes on the affected side compared to the normal side in deltoid (PD) and biceps brachii (PB) were calculated. Central motor conduction time was calculated by subtracting peripheral motor conduction time from the onset latency of motor evoked potentials. Cervical lordotic angles, the diameter of C5 canal, and the intervertebral range at C4-C5 and C5-C6 levels were assessed on plain radiographs. Magnetic resonance imaging was used to assess the width of the intervertebral foramen (WIF) at C4-C5 and C5-C6 levels in the axial views. First visit and final follow-up strengths of most atrophic muscles were evaluated using manual muscle testing (MMT). Improvements in strength were classified as excellent (five grades recovered), good (more than one grade recovered), unchanged (no improvement), or poor (worsened). Results: The outcomes were excellent in 27 patients (35.1%), good in 22 (28.6%), unchanged in 26 (33.8%), and poor in two (2.5%). Factors associated with excellent outcomes were WIF at C4-C5 and C5-C6 on the normal side, PB, and CMAP amplitudes of the deltoid on the normal side. Conclusions: Patients with excellent outcomes originally had wide WIF at C4-C5 and C5-C6 levels and the absence of symptomatic spinal cord compression at C3-C4 and C4-C5 levels.

Deleterious Outcomes in Long-Hauler COVID-19: The Effects of SARS-CoV-2 on the CNS in Chronic COVID Syndrome.

Amid our understanding of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the mechanisms involved in the causation of acute-phase coronavirus disease (COVID-19), we have come across clinical cases that have been shown to run a protracted course of COVID-19 with complex clinical findings related to organ systems in general and the CNS in particular that deserve to be addressed in the COVID long-haulers, for which the more clinically-related term chronic COVID syndrome (CCS) has been coined recently. An in-depth understanding of the mechanism that forms the basis of CCS and neurological deficits in CCS is needed as this can help in determining the management of cases of neuro-COVID, which is emerging as a less lethal but more disabling disease state. This Viewpoint highlights this syndrome, the possible pathogenetic pathways involved, and the treatment approaches that can be taken to help manage COVID long-haulers in CCS.

Encephalitozoonosis infection in a traditional rabbit farm with neurological manifestations.

Encephalitozoon cuniculi, a zoonotic and opportunistic pathogen, can cause latent infection, especially in lagomorphs. Nowadays, this member of the Eukaryotes has drawn significant attention in the fields of veterinary and public health. The purpose of this study was to determine the seroprevalence of infection in a New Zealand rabbit farm that has a clinical history of neurological manifestations including head tilt ataxia, aggressiveness, seizures, and circling and rotational movements around the body length axis, but the general conditions and food intake were normal. Blood samples were taken from 42 breeding rabbits and researched for E. cuniculi antibodies. Out of that, 25 (59%) animals resulted positive against the pathogen. The rabbit was found to be seropositive for E. cuniculi antibodies, but negative for Toxoplasma gondii and Listeria monocytogenes antibodies. Hematological and serum biochemical parameters were measured at reference intervals. No brain tissue impairment was observed the computed tomography (CT) scan. As a result of these histopathological findings, the brain cortex presented severe neuronal degeneration and partial myelin loss, with reactive diffuse gliosis against the parasite spores was observed to the histopathology. These results are possibly related to the early stage of infection because the parasitic infestation comprise long time spreading. E. cuniculi DNA was detected on brain tissues using polymerase chain reaction (PCR), and it partial DNA sequence was identified as E. cuniculi genotype I.

Survey of the Extent of the Persisting Effects of Methylmercury Pollution on the Inhabitants around the Shiranui Sea, Japan.

In 1956 methylmercury poisoning, known as Minamata disease, was discovered among the inhabitants around the Shiranui Sea, Kyushu, Japan. Although about five hundred thousand people living in the area had supposedly been exposed to methylmercury, administrative agencies and research institutes had not performed any subsequent large scale, continuous health examination, so the actual extent of the negative health effects was not clearly documented. In 2009, we performed health surveys in order to examine residents in the polluted area and to research the extent of the polluted area and period of pollution. We analyzed data collected on 973 people (age = 62.3 ± 11.7) who had lived in the polluted area and had eaten the fish there and a control group, consisting of 142 persons (age = 62.0 ± 10.5), most of whom had not lived in the polluted area. Symptoms and neurological signs were statistically more prevalent in the four groups than in the control group and were more prevalent and severe in those who had eaten most fish. The patterns of positive findings of symptoms and neurological findings in the four groups were similar. Our data indicates that Minamata disease had spread outside of the central area and could still be observed recently, almost 50 years after the Chisso Company's factory had halted the dumping of mercury polluted waste water back in 1968.

Ossification of the ligamentum flavum.

Ossification of the ligamentum flavum (OLF or OYL: ossification of the yellow ligament) usually occurs at the lower thoracic level and causes various types of neurological symptoms in accordance with the compression level of the spinal cord, the nerve roots, the conus medullaris, and the cauda equina. Although the greatest compression level to the nerve tissues is thought to be the most pathognomonic one, it is difficult to diagnose it in some cases. The effectiveness of conservative treatment such as applying a corset is small. Early surgical treatment is strongly recommended for the patients with spastic gait, severe decrease of muscle power in the lower extremities, bladder-bowel disturbance, combined ossification of the posterior longitudinal ligament at the same level, and severe compression to the spinal cord due to thickly hypertrophied ossification. However, numbness of the lower extremities and spastic gait tend to remain even after surgery.

Microcefalia asociada a infección congénita por Zika. Primer caso confirmado en el Tolima* / Microcephaly Associated with Congenital Zika Infection. First Confirmed Case in Tolima / Microcefalia associada à infecção congênita pelo vírus Zika. Primeiro caso confirmado em Tolima, Colômbia

Resumen: El virus del Zika fue el responsable en Colombia de la segunda epidemia más grande del continente después de Brasil durante el período 2015-2017. Con 100.000 casos reportados, 19.963 gestantes infectadas y 248 casos de niños nacidos con microcefalia, la epidemia fue declarada como finalizada en el país en 2016. Es el causal del Síndrome Congénito por Zika (SCZ), sospechado por primera vez en Río de Janeiro donde se estableció la relación entre la infección por Zika en gestantes y el aumento en la incidencia de microcefalias. Posteriormente se plantearía toda una serie de alteraciones congénitas en el feto a nivel neurológico, sensorial y osteomuscular confirmando así el efecto teratogénico del virus. Se presenta el caso de un paciente de cuatro meses y veinte días de edad que procede del área rural de Ibagué y que acude al programa madre canguro de la Unidad Materno Infantil del Tolima (UMIT); presenta diagnóstico de microcefalia asociada a neuroinfección congénita por Zika con prueba confirmatoria RT-PCR de la madre por parte del Instituto Nacional de Salud. Presenta hallazgos imagenológicos, físicos y clínicos como un perímetro cefálico que persiste por debajo de -3SD, trastorno del tono y un Retardo en el Desarrollo Psicomotor (RDPM) severo con una edad neurológica de tres meses persistente en todos los controles. Atrofia cortical, microcalcificaciones periventriculares y gangliobasales, y ventriculomegalia. Se trata del primero de veintiún pacientes con sospecha clínica y confirmación con hallazgos similares a los presentados en la literatura. La importancia de la detección de estos casos radica en el riesgo neurológico que se presenta por el compromiso motor, cognitivo y sensorial. También en la diferenciación con las secuelas neurológicas por TORCH y de alteraciones cromosómicas.

Abstract: The Zika virus was responsible in Colombia for the second largest epidemic on the continent after Brazil during the 2015-2017 period. With 100,000 reported cases, 19,963 infected pregnant women and 248 cases of children born with microcephaly, the epidemic was declared to have ended in the country in 2016. It is the cause of the Congenital Zika Syndrome (CZS), suspected for the first time in Rio de Janeiro where the relationship between Zika infection in pregnant women and the increase in the incidence of microcephaly was established. Subsequently, a whole series of congenital disorders in the fetus would be considered at the neurological, sensory, and musculoskeletal levels, thus confirming the teratogenic effect of the virus. The case of a four-month and twenty-day old patient coming from the rural area of Ibagué and attending the kangaroo mother program of the Maternal and Child Unit of Tolima (UMIT) is presented. The child was diagnosed with microcephaly associated with congenital Zika neuroinfection confirmed by RT-PCR test to the mother by the National Institute of Health. It presents imaging, physical, and clinical findings such as a head circumference persistently below -3SD, tone disorder, and a severe Psychomotor Development Retardation (PDR) with a persistent neurological age of three months in all controls. Cortical atrophy, periventricular and basal ganglia micro-calcification, and ventriculomegaly. This is the first of twenty-one patients with clinical suspicion and confirmation with findings similar to those presented in the literature. The importance of detecting these cases lies in the neurological risk presented by motor, cognitive and sensory involvement and also in the differentiation with TORCH neurological sequelae and chromosomal abnormalities.

Resumo: O vírus do Zika foi o responsável na Colômbia pela segunda maior epidemia do continente depois do Brasil entre 2015 e 2017. Com 100.000 casos relatados, 19.963 gestantes infectadas e 248 casos de recém-nascidos com microcefalia, a epidemia foi declarada como finalizada no país em 2016. É a causa da síndrome congênita pelo vírus Zika, suspeita pela primeira vez no Rio de Janeiro, Brasil, onde foi estabelecida a relação entre a infecção pelo vírus Zika em gestantes e o aumento da incidência de mi-crocefalias. Em seguida, são apresentadas alterações congénitas no feto em nível neurológico, sensorial e osteomuscular, o que confirma o efeito teratogênico do vírus. É apresentado o caso de um paciente de quatro meses e vinte dias de idade que procede da área rural de Ibagué, Colômbia, e que recorre ao programa "mãe canguru" da Unidade Materno-Infantil de Tolima; apresenta diagnóstico de microcefalia associada à neuroinfecção congênita pelo vírus Zika com teste confirmatório RT-PCR da mãe, realizado pelo Instituto Nacional de Saúde da Colômbia. Apresenta achados imagenológicos, físicos e clínicos como um perímetro cefálico que persiste abaixo de -3SD, transtorno do tom e um atraso no desenvolvimento psicomotor agudo com uma rede neurológica de três meses persistente em todas as revisões. Atrofia cortical, microcalcificações periventriculares e dos gânglios da base, e ventriculomegalia. Trata-se do primeiro de 21 pacientes com suspeita clínica e confirmação com achados semelhantes aos apresentados na literatura. A importância da detecção desses casos está no risco neurológico apresentado pelo comprometimento motor, cognitivo e sensorial. Também na diferenciação com as sequelas neurológicas por TORCH e alterações cromossômicas.

Signs and symptoms of methylmercury contamination in a First Nations community in Northwestern Ontario, Canada.

In 1970, fish caught in the English-Wabigoon River system in northwestern Ontario, Canada, were found to be contaminated with mercury coming from a chlor-alkali plant in the province. In the 1970s, patients exhibiting some of the symptoms of the Hunter-Russell syndrome (e.g. paresthesias, visual field constriction, ataxia, impaired hearing, and speech impairment) were reported by some researchers. However attempts to diagnose the patients as suffering from methylmercury poisoning proved to be controversial. In order to research the presence of methylmercury contamination, and show that the patients, through eating contaminated fish, were suffering from methylmercury poisoning, we studied the results of subjective complaints, neurological findings, and quantitative somatosensory measurements gathered in Grassy Narrows Indian Reservation, Ontario, in March, 2010. At that time, the population of the Grassy Narrows settlement was around 900. Ninety-one residents volunteered to be examined. From them, we selected 80 people who were older than 15 years old, and divided them into two groups. Canadian Younger (CY): 36 residents who were from 16 to 45 years old. Canadian Older (CO): 44 residents who were from 46 to 76 years old. We compared them to Japanese Exposed (JE): 88 methylmercury exposed residents from the Minamata district in Japan, and Japanese Control (JC): 164 control residents from non-polluted areas in Japan. Complaints and abnormal neurological findings were more prevalent and quantitative sensory measurements were worse in the two Canadian groups and the Japanese Exposed group than in the Japanese Control group. Complaints, neurological findings and quantitative sensory measurements were similar in Canadian Older and Japanese Exposed. The results for Canadian Younger fell between those of Canadian Older and Japanese Control. These findings indicate that the clinical signs and symptoms of the residents of Grassy Narrows are almost the same as those recorded for Minamata disease in Japan.