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Introduction: Miller-Dieker syndrome has an autosomal dominant pattern of inheritance and belongs to the group of neuronal migration disorders. It is characterized by the presence of type 1 lissencephaly, global development delay, microcephaly, epilepsy and facial dysmorphisms caused by mutations in chromosome 17p13. Miller-Dieker syndrome is an extremely rare disease with a prevalence of 1 case per 100,000 live births. Case presentation: We present two cases of Miller-Dieker syndrome in which data from the physical examination and questioning were clues that allowed a strong diagnostic suspicion and that, in turn, the definitive diagnosis by means of FISH allowed us to provide adequate management in order to improve the long-term prognosis. Conclusion: A high diagnostic suspicion must be achieved through physical examination aimed at identifying alterations in patients with difficult-to-control epilepsy, since it allows guiding the etiological diagnosis and thereby providing adequate treatment. [ABSTRACT FROM AUTHOR]

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Introduction: Zika virus (ZIKV) is a flavivirus in pregnant women that can cause neurological conditions in their children. The aim of this study was to describe the neurodevelopment of 104 children with prenatal exposure to ZIKV, during the first 18 months of life. Material and methods: the patients were evaluated by neurological examination and the application of the Bayley III scale. Infection in mothers was confirmed with ZIKV NS1 IgG. Results: thirty-nine patients with neurodevelopmental delay (37.5%) and 17 patients with microcephaly (16.3%) were identified. Ocular abnormalities were detected in 25 (24%) patients, including involvement of the optic nerve, the retina, as well as the extraocular muscles. Conclusion: children of mothers with ZIKV infection during pregnancy have a high frequency of neurodevelopmental abnormalities. [ABSTRACT FROM AUTHOR]

Copyright of CES Medicina is the property of Universidad CES and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of this study was to describe the epidemiological, clinical, and therapeutic characteristics of patients diagnosed with congenital toxoplasmosis (CT) with severe neurological disease. We reviewed the medical records of patients under 1 year of age with positive IgM test for Toxoplasma gondii and brain, eye, and/or hearing involvement. This study was carried out at the Instituto Nacional de Salud del Niño San Borja (INSNSB), Lima, Peru. Twenty-one patients diagnosed with CT were evaluated; 57.1% were female, and the median age at diagnosis was 3.1 months (IQR: 1.7-7.3). The main central nervous system manifestations were hydrocephalus (76.2%), intracranial calcifications (52.4%), microcephaly (42.9%), and convulsions (25.6%); the most frequent ocular manifestation was chorioretinitis (38.1%). In conclusion, 64% of CT cases had one or more manifestations of severe neurological disease. [ABSTRACT FROM AUTHOR]

Objective: To describe the epidemiological and clinical profile of microcephaly cases in Recife, Pernambuco. Method: This was a cross-sectional, quantitative study developed at a reference hospital for cases of microcephaly. Data were collected in August 2016 from the FormSUS system. All confirmed cases of microcephaly in the period from August 2015 to July 2016 were included, making up 180 cases. Data were analyzed using descriptive statistics and the chi-square and Fisher's exact tests. Results: The majority of cases occurred in October and November 2015, with 55 (30.56%) and 52 (28.89%) cases, respectively. Serology for the Zika virus was reagent for 79 (43.89%) of the infants. The most prevalent symptom during gestation was exanthema 105 (57.3%). Furthermore, 150 (83.33%) of the children were born at full term, 78 (43.33%) presented percentiles between 10 and 50 in relation to weight and gestational age and 108 (60%) had -3 standard deviations in the comparison of head circumference with gestational age, thus considered to indicate severe microcephaly. Conclusions: It is necessary to guarantee comprehensive and specialized care for these children. Epidemiological and entomological surveillance and more effective control actions in the fight against the vector are necessary. [ABSTRACT FROM AUTHOR]

The reports of cases of microcephaly in Brazil have posed a challenge for the public health, in particular, in Latin American countries such as Colombia, since despite their alleged relationship with the Zika virus, there is no information on the relation of other factors involved in the etiology of microcephaly are related with this increase in cases. There are also very few epidemiological statistics on the behavior of the etiological factors of microcephaly until the crucial year of 2015, not only in Brazil, but also in most Latin American countries. The changes in the incidence and prevalence of microcephaly are very variable due to the dissimilarities in the definitions, the development criteria and the differences among the populations with and without certified diagnostic standards and follow-up criteria for microcephaly. A general review of the microcephaly issue is made, in order to unify definitions, classification and etiology. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: One of the neurodevelopmental disorders in children with <1500 g of birth weight is spastic cerebral palsy (SCP) that is associated with microcephaly, epilepsy, intellectual disability, and global developmental delay. Objective: To describe the dental management of a boy with spastic quadriparesis. Case description: To publish this case, authorization was obtained through informed consent signing. The patient was been seen by an multidisciplinary team since early age but was only sent to the Pediatric Dental Service of the Mercy Pediatric Hospital Foundation in Bogotá at 3 years 7 months of age. The boy had history of prematurity: 28 weeks; weight: 925 g; height: 34 cm: head circumference: 25 cm. Systemic diagnoses: SCP, microcephaly, epilepsy, severe intellectual disability, and overall developmental delay. Physical exam: 9 kg weight, 52 cm height and 34 cm head circumference. Extraoral examination: dolichocephalous, convex profile, mandibular micrognathism, oral opening 1.5 cm. Intraoral exam: early childhood caries. Comprehensive dental care was performed with removal of septic foci, motivation, and oral hygiene instruction. Conclusion: The multidisciplinary team for the care of premature children with neurodevelopmental disorders, microcephaly, and low birth weight must include a pediatric dentist to initiate personalized oral health promotion and prevention processes to avoid early childhood caries and improve quality of life. [ABSTRACT FROM AUTHOR]

Objectives. To determine the ratio of microcephaly in newborns in level II and III health facilities of the Ministry of Health (MINSA) of Peru for the period 2005-2013. Materials and Methods. A secondary analysis of the databases of the Perinatal Information System was carried out during 2005-2013. Microcephaly was identified applying World Health Organization (WHO), Fenton, mixed (WHO-Fenton), and proportionality criteria. The ratios and indices of microcephaly were estimated per 10,000 live births (LB) by region and concordance was compared, using the WHO parameter as a reference. Results. The ratio of microcephaly during 2005 to 2013 was 3.4%, the average rate of microcephaly was 335 per 10,000 LBs according to the WHO criterion. The mixed parameter showed a substantial concordance (Kappa of 0.635), while the proportionality parameter showed a reasonable concordance (Kappa of 0.298). Conclusions. The ratio of microcephaly in MINSA Level II and III health facilities was higher than that reported in other countries in the region before the appearance of Zika in the Americas. The frequency variations observed with those of other countries and among Peruvian regions could be explained by different factors, such as the technique for measuring head circumference, data capture, constitutional factors, and social determinants. We suggest standardizing measurements and their recording, harmonizing diagnostic criteria, and establishing health strategies to strengthen the epidemiological surveillance of the causes of microcephaly. [ABSTRACT FROM AUTHOR]

Zika infection during the gestational stage can cause uterine transmission, affecting the proper development of the embryo causing severe congenital affectations in brain formation called Congenital Zika Syndrome (CZS). These characteristics include structural alterations such as cranial morphology, cerebral and ocular anomalies, and contractures, causing severe neurological involvement. During 2016-2018, 51 cases of CZS have been confirmed in Mexico. These reports indicate that 76% of pregnant women presented the infection in the first trimester of the gestational period, with microcephaly being the neurological congenital malformation with the highest frequency (86.5%). This report describes a clinical case in the State of Sinaloa during 2017; female newborn due to an incidental birth with a diagnosis of severe microcephaly and with a maternal history of pruritic rash and fever during pregnancy, with negative results for NAT. The epidemiological analysis of Zika infections places this state below the second quartile (1.89) for 2016 and between the second and third quartile (3.42, 4) in 2017 and 2018 respectively. This indicates the tendency of the entity to increase the rate during this period. This increase proposes a scenario in which the coordination of vector control actions, the identification and notification of arbovirosis by health personnel according to the operative guidelines, and medical attention in case of suspected viral infection are necessary. to reduce transmission chains in a susceptible population such as Sinaloa. [ABSTRACT FROM AUTHOR]

One of the greatest recent concerns of pregnant women has been the expectation of knowing if their child has been affected by the microcephaly outbreak in Brazil and much of Latin America since late 2015. Unlike other malformations, such as anencephaly, microcephaly does not prevent live birth or reduce life expectancy, but it can cause physical and mental disabilities, which raise concerns about termination of pregnancy, in which case it can be considered a form of eugenics. In view of the above, the text verifies whether there is eugenics and to which case it belongs; subsequently, there is an analysis, from the perspective of political justice, of authors subscribed to neokantism, especially Jürgen Habermas and John Rawls. In order to answer the inquiries, the deductive method was used, by means of bibliographic research. It was concluded that the foundation of maximization of freedoms can be a moral impediment in the abortive conduct of microcephalic fetuses, as long as the eugenic end is merely and verifiably utilitarian. PT Una de las grandes preocupaciones recientes de las mujeres gestantes ha sido la expectativa de saber si su hijo se ha afectado por el brote de microcefalia en Brasil y gran parte de Latino América desde finales del 2015. A diferencia de otras malas formaciones, como la anencefalia, la microcefalia no impide el nacimiento con vida o reduce su expectativa, pero puede causar discapacidades físicas y mentales, las que generan inquietudes acerca de la interrupción del embarazo, caso en que puede ser considerada como una forma de eugenesia. Ante lo anterior, en el texto, se verifica si hay eugenesia y a cuál el caso pertenece; posteriormente, ocurre un análisis, desde la perspectiva de la justicia política, de autores suscritos al neokantismo, en especial Jürgen Habermas y John Rawls. Para contestar las indagaciones, se utilizó el método deductivo, por medio de la investigación bibliográfica. Se concluyó que el fundamento de maximización de las libertades puede ser una impeditiva moral en la conducta abortiva de fetos microcefálicos, siempre y cuando el fin eugenésico sea mera y comprobadamente utilitarista. [ABSTRACT FROM AUTHOR]

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Zika is an emerging disease in Venezuela and in the state of Zulia, it generally evolves in a benign manner and can produce complications such as Guillain-Barré syndrome and microcephaly in newborns. Itis proposed to describe the clinical and epidemiological aspects of the Zika outbreak and the cases of microcephaly. The research is descriptive, cross-sectional, conducted from May 2016 to March 2017. The population consisted of 1,155 suspected cases, with a sample of 228 patients, resulting in 108 positive PCR in real time. The largest number of cases occurred at the age of 17 to 33 years (59.3%), with a predominance of females (81.5%), in the municipalities of Maracaibo and San Francisco (75%). In relation to the symptomatology, the frequent are rash (84.3%), headache and fever (76.9%), while arthralgia (65.7%) and myalgia (47.2%) are less common. During the outbreak, there were two deaths of the male sex, representing 1.9%; 146 cases with Guillain-Barré syndrome and 7 cases with microcephaly, corresponding to the male sex (85%), with a newborn gestational age of 37.4 weeks and 85% survival. The main recommendation should be directed to the control of the transmitting vector of the disease and to make the diagnosis of the suspicious cases for their confirmation. [ABSTRACT FROM AUTHOR]

La epidemia del Zika fue motivo de controversia en todos los países tropicales, en especial en las Américas por su distribución rápida y por las consecuencias en las mujeres embarazadas y su progenie. En Venezuela, las dificultades en el conocimiento del número real de casos infiuyeron en la desinformación del público, pero no así en el aumento del número de evaluaciones y de diagnósticos de malformaciones del sistema nervioso central (SNC) fetal después del brote epidémico, lo que sirve como evaluación indirecta de la diseminación del virus y de su predilección neurotrópica en los tejidos fetales. En este trabajo se presenta una serie de 375 casos de pacientes que evaluadas en la Unidad de Medicina Materno Fetal del Centro Clínico La Fontana en La Victoria, Estado Aragua, por virosis eruptivas sugestivas de Zika durante los años 2015 y 2016, donde hubo un incremento en el número de casos desde el mes de octubre del 2015 que permaneció durante el año siguiente. Los diagnósticos de malformaciones del SNC incrementaron especialmente a partir de febrero del 2016, año en que se contabilizaron 32 casos de fetos afectados, de los cuales 21 de ellos tuvieron sintomatología de Zika fiorido antes de la semana 20 de gestación. Las malformaciones de fosa posterior craneal fueron las más frecuentes en esta serie, pero también hubo otros problemas craneales y extra craneales. Recomendamos transparencia en la notificación epidemiológica para poder tomar medidas sanitarias respectivas ante virosis similares y la correcta notificación a la población. [ABSTRACT FROM AUTHOR]

L'effet tératogène du virus Zika (VZIK) a récemment été confirmé. Il faut envisager le diagnostic de syndrome associé à l'infection congénitale à VZIK chez les enfants qui présentent une microcéphalie inexpliquée, des calcifications intracrâniennes, une ventriculomégalie ou des anomalies structurelles majeures du système nerveux central. La prise en charge est en constante évolution, mais des suggestions sont proposées pour les enfants chez qui les constatations évoquent une infection congénitale et ceux nés d'une mère susceptible d'avoir été exposée au virus pendant sa grossesse. [ABSTRACT FROM AUTHOR]

In the first quarter of 2016 it has been reported that pregnant women in Brazil, have had a serious consequence in their in utero product, caused by Zika virus infection. The development of microcephaly as well as serious damage to the central nervous and cardiac systems has strongly attracted the attention of the World Health Organization (WHO) government authorities and health of Latin American countries, US and European countries. For this reason greater emphasis has bean given to epidemiologic and personal protection of the civilian population of countries living in tropical and subtropical areas of the world, to avoid being infected by the Zika virus. Special interest has been in pregnant women and those planning to start a pregnancy; visit places of risk and the care they should have with their sexual activity, especially when their male partner has been away or stayed in those countries. [ABSTRACT FROM AUTHOR]

We present the case of a newborn with a diagnosis of microcephaly with a history of having been a monochorial, biamnotic twin pregnancy, with intrauterine death of the other twin. Before diagnosing fetal-fetal transfusion syndrome, other associated diseases were ruled out by laboratory and imaging studies. [ABSTRACT FROM AUTHOR]

In this paper the relationship between the incidence of microcephaly and various arboviruses in current boom is exposed. It stands out that in the infection by the dengue virus, there have been no cases of microcephaly, however in the case series of chikungunya infection, incidence of cases with this affectation was reported, highlighting a cohort called CHIMERE; also the highest incidence of microcephaly associated with the mentioned Zika virus, which has been widely studied. All this, due to the neurotropism of these arboviruses. [ABSTRACT FROM AUTHOR]

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Johnson et al. in 1983 described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern and variable expressivity. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. Apart from these cases, only seven patients with Johnson-McMillin syndrome have been report. The pathogenesis of this entity is uncertain y the differential diagnosis is extensive. We describe an unrelated female patient of eight -month-old. Alopecia, microcephaly, facial palsy, cleft soft palate and abnormalities of ears were significant for diagnosis. Also, she presented other clinical signs no associated with the syndrome as imperforate anus and bilateral congenital cataract. [ABSTRACT FROM AUTHOR]

Introduction: Methylphenidate (MPH) is one of the most widely used medications to treat Attention Deficit Hyperactivity Disorder (ADHD) m children; its potential side effects have been a permanent concern. Methods: Along a year we surveyed blood pressure, heart rate, crania/circumference, body height and weight of ADHD patients treated with MPH. Individual data were compared with percentile growth charts for age and gender. Results: Fifty six patients were included, ages 4 to 17 years, 82% males. Forty three patients were taking short action MPH and 13 sustained release MPH (OROS). Eighteen patients had ADHD alone and the rest of them had a comorbid ADHD, 16 with epilepsy and 7 had mild mental retardation. Nineteen patients take an antiepileptic drug, 8 a neuro/eptic drug and 3 an antidepressive drug. In five patients blood pressure was under normal (3rd centile) without clinical manifestations. Any patient had abnormal heart rates, 15 patients had microcephaly and one had macrocephaly. Four patients had short stature and 3 were above centile 97. Conclusions: We found no significant changes in cardiovascular parameters, patients with low blood pressure were clinically asymptomatic. Weight and height were not affected through the year of follow-up, growth velocity remained normal in all cases. However, we suggest a permanent follow-up in patients under chronic drug treatment. [ABSTRACT FROM AUTHOR]

Rett's syndrome (RS) is a pervasive neurodevelopmental disorder characterized by autistic behavior, stereotypic movements of hands, loss speech and communication, acquired microcephaly. The diagnosis of RS is mainly based on their clinical characteristics and evolution of the syndrome, there is no laboratory marker that facilitates diagnosis. RS patients often are confused with autism, although they differ in their evolution. We report a case of the RS diagnosed 3 years 9 months age where was found proliferation of harmful bacteria and yeast and high levels of neurotoxic metals. [ABSTRACT FROM AUTHOR]

Introduction: Zika virus (ZIKV) is an enveloped flavivirus transmitted to humans mainly by Aedes aegypti. ZIKV infection has been associated with high neurotropism and neuropathic effects such as the Guillain-Barré syndrome in adults, and fetal and postnatal microcephaly and the congenital Zika virus syndrome similar to that produced by rubella virus (VR). Objective: To compare Zika virus membrane protein E (E-ZIKV) and rubella virus membrane protein E1 (E1-RV), and to propose possible implications for neurotropism and nervous system disorders associated with ZIKV infections. Materials and methods: The amino acid sequence of E-ZIKV protein (PDB: 5iZ7) was aligned to that of rubella virus glycoprotein E1 (PDB: 4ADG). The secondary structure elements were determined using the programs Vector NTI Advance®, DSSP, and POSA, and integrated data management tools (AlignX®). One of the main comparison and alignment criteria was the allocation of structurally equivalent residues with more than 70% identity. Results: E-ZIKV structural organization (PDB: 5iZ7) was similar to that of E1-RV (PDB: 4ADG) (70%-80% identity), and it was consistent with relevant structural features of viral membrane class II fusion glycoproteins. E-ZIKV and E1-RV exhibited highly conserved fusion structural elements at the distal region of domain II, which has been associated with the RV myelin oligodendrocyte glycoprotein and Axl cell receptors in ZIKV and other flaviviruses. Conclusion: The comparison of E-ZIKV and E1-RV proteins constitutes an essential step towards the definition of ZIKV neurotropism and pathogenesis molecular determinants, and for the adoption of diagnosis, prevention and treatment strategies against neurological complications induced by ZIKV infection. [ABSTRACT FROM AUTHOR]