Neurological evaluation of microcephalic children with Zika syndrome and congenital cytomegalovirus infection.

Introduction: The association between the virus prenatal infection by Zika virus (ZIKV) and central nervous system disorders has been well established and it has been described as the Congenital Syndrome Associated to the Zika Virus (CSZ). However, the neurological development in those patients is still an object of study. The main differential diagnosis is the Cytomegalovirus (CMV). Objective: Describe the involvement of microcephalic patients affected by the congenital infection by the Zika Virus or CMV. Methodology: Data has been collected from microcephalic patients whose birth took place after 2016 and which also had the congenital infection confirmed or presumed. The researched data consists in: congenital infection, head circumference from birth, presence of epilepsy, treatment by mono or polytherapy, electroencephalographic patterns, neurological physical examination and evaluation of gross motor development. Results: 21 microcephalic children have been included showing the following congenital infectious syndromes: 9 were affected by cytomegalovirus (43%), 6 by the Zika virus (29%) and 6 ones by presumed infection due to the Zika virus (29%). From those ones, 13 (62%) presented epilepsy diagnosis including generalized crises and 9 (69%) were in current use of polytherapy. All of them also showed disorganized and asymmetrical base rhythms. Concerning the epileptiform activity, 5 presented multifocal activity and 3 ones hypsarrhythmia. All of the patients went under neuroimaging: 12 (57%) of them presented calcifications and 5 (24%) hydrocephalus. On the neurological exam, 17% presented a decreased axial tone and an enlarged appendicular. Smaller head circumference children had greater motor impairment and severity in the epilepsy. There was no difference in the frequency of epilepsy between children with CSZ and CMV. Conclusion: Epilepsy is confirmed as one of the most important complications of congenital infections by CSZ and CMV.

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar / Stomatognathic and speech alterations are common among children with incontinentia pigmenti

Objetivo Identificar possíveis alterações fonoaudiológicas de crianças com Incontinência Pigmentar (IP), buscando caracterizar o papel da Fonoaudiologia na avaliação e manejo dessa condição genética. Métodos A amostra foi composta por sete crianças do gênero feminino com diagnóstico de IP. Todas foram submetidas aos procedimentos de avaliação nas áreas de motricidade orofacial, deglutição, fala e voz. Resultados Os pacientes que compuseram a amostra tinham média de idade de 6,4 anos. Dentre as principais características clínicas estruturais verificadas, destacaram-se a presença de diastemas não fisiológicos e anormalidades de palato duro, encontradas em 85,7% da amostra, além da agenesia dentária em 71,4% dos casos. Quanto aos achados funcionais, 71,4 % apresentaram alteração de mobilidade da língua e 57,1 %, mastigação inadequada. Em relação às alterações de fala, os principais achados foram alterações fonéticas e/ou fonológicas, verificadas em 85,7% da amostra, sendo mais comum a alteração fonética caracterizada pela distorção na fricativa alveolar [s], presente em 57,1% dos casos. Nenhuma das crianças apresentou alteração de voz e deglutição, de acordo com o protocolo utilizado. Além disso, não se evidenciou anormalidade de audição, de acordo com a queixa familiar ou por meio da observação durante a avaliação. Conclusão Nesta amostra, as alterações fonoaudiológicas mais frequentes entre os pacientes com IP relacionaram-se, principalmente, com as estruturas do sistema estomatognático e com a fala. .

Purpose To identify possible speech-language disorders in children with Incontinentia Pigmenti (IP), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition. Methods The sample was composed of seven female children diagnosed with IP. Results The patients in the sample had a mean age of 6.4 years. Among the main structural features verified in the patients, highlighted the presence of no physiological diastema and hard palate abnormalities, found both in 85.7 % of the sample, in addition to tooth agenesis in 71.4% of cases. As for functional findings, 71.4 % of the sample had abnormal tongue mobility and 57.1%, inappropriate chewing. As for changes in speech, the main findings consisted of phonetic/phonological alterations, verified in 85.7 % of the sample, being the most common phonetic alteration characterized by distortion of alveolar fricative [s], present in 57.1 % of cases. None of the children had abnormal voice and swallowing according to the used protocol. Furthermore, no detectable hearing abnormality was observed according to claim of the family or by observation during the evaluation. Conclusion In this sample the most frequent speech-language alterations verified among the patients with IP were mainly related to the stomatognathic system structures and speech. .

Incontinentia pigmenti.

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

Incontinentia pigmenti

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti.

PURPOSE: The aim of this study was to evaluate the skeletal characteristics of patients with the rare genetic disease of Incontinentia Pigmenti, by lateral cephalometric analysis on the antero-posterior plane and by frontal cephalometric analysis on the horizontal plane. METHODS: Lateral skeletal cephalometric analyses were performed according to Steiner for evaluation of antero-posterior direction, and frontal skeletal cephalometric analyses according to Ricketts for evaluation of horizontal direction in 9 patients with IP. Left and right facial widths at the level of the zygomatic arch were also evaluated. The Student t-test was used for paired to a 5% level of significance data. RESULTS: The lateral skeletal cephalometric findings were not statistically significant, but the Class II was the most frequent finding (44.4%), followed by Class III (33.3%) and Class I (22.2%). The right maxillo-mandibular width was significantly lower than normal values, and the right facial width was significantly higher than the left, at the level of the zygomatic arch. CONCLUSIONS: Patients with IP showed more skeletal discrepancies of Class II and III than Class I malocclusion, and had significant horizontal facial skeletal asymmetries. This should alert health professionals to route these patients for orthodontic assessment and possible therapeutic interventions. However, larger samples are needed to better elucidate if these cephalometric findings can be specifically related to IP.