Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

Relatamos o caso de uma menina com 6 anos de idade que apresentava episódios recorrentes de diarréia desde os 6 meses de vida associada a anemia ferropriva com desenvolvimento neuromotor normal. Aos 3 anos de idade começou a apresentar crises parciais que foram controladas com carbamazepina. Tomografia computadorizada de crânio aos 5 anos demonstrou calcificações girais grosseiras nas regiões occipital e parietal posterior bilateralmente. A ressonância magnética de crânio evidenciou áreas de hipossinal em T2 na região parieto-occipital bilateralmente. Realizou investigação para síndrome de mal absorção incluindo estudo da função digestivo/absortiva (teste D-xilose), avaliação sorológica (anticorpos antigliadina, antiendomísio e antitransglutaminase) e biopsia de intestino delgado que demonstrou intensa atrofia de vilosidades com infiltrado linfoplasmocitário no córion compatível com doença celíaca.

INTRODUÇÃO: A eficácia do ACTH no tratamento da Síndrome de West (SW) é extensivamente debatida na literatura, o mesmo ocorrendo em relação às doses, efeitos colaterais e protocolos de utilização. OBJETIVO: Revisar, analisar criticamente e discutir os achados das publicações mais recentes e relevantes relacionadas ao uso do ACTH no tratamento da SW. METODOLOGIA: Pesquisou-se as bases de dados MEDLINE e PUBMED, utilizando-se as palavras-chave ACTH e WEST SYNDROME, período de 1997 a 2007. RESULTADOS: Foram obtidos 96 títulos no MEDLINE e 158 no PUBMED, e dentre eles foram selecionados 22 publicações. Outros trabalhos anteriores ao período avaliado mas que apresentavam relevância especial no contexto desta revisão também foram incluídos. CONCLUSÕES: Há evidências de que o ACTH provavelmente apresente eficácia maior no controle imediato dos espasmos e da hipsarritmia. Entretanto, não há evidências concretas desta superioridade no longo prazo (controle de crises a longo prazo e interrrupção ou prevenção de comprometimento do desenvolvimento neuropsicomotor).

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Introduction: Chronic hypoxia in high altitude environments reduces fetal growth and birthweight and increases child mortality. Objective: To analyze the relationship between geographic altitude and birthweight, prematurity, and child mortality of Jujenean populations distributed over an altitudinal gradient (500 to 3500 m.a.s.l.) Subjects and methods: Data proceeded from Statistical Reports on Live Newborns (LN) and fetal deaths (DF) between 1998 and 2003, which were grouped according to the four Jujenean geographical regions (Puna 3500 m.a.s.l., Quebrada 2500 m.a.s.l., Valle 1500 m.a.s.l., Ramal 500 m.a.s.l.). Rates of very low birthweight at birth (VLBW), low birthweight (LBW), insufficient birthweight (IB) (2500-2999 g), normal birthweight (NB) (Ͼ 3000 gr) were determined and the residual distribution (RD) was estimated using the Wilcox Statistical Program (http://eb.niehs.nihgov/bwt) (only in LN). A Pearson correlation for these variables and Infant Mortality (IM), Neonatal Mortality (NM), Post-neonatal Mortality (PM) and geographic altitude was done. Results: Puna and Quebrada show the lowest percentages of VLBW (Pϭ 0.59% and Qϭ 0.81%), of NB (Pϭ 63.4% and Qϭ 68.8%) and RD (Pϭ 1.4% and Qϭ 1.9%). The lowlands (Valle y Ramal) show the lowest values of LBW (Vϭ 5.13% and Rϭ 4.53%), of IB (Vϭ 16.7 and Rϭ 15.9%) and the higher ones of RD (Vϭ 4% and Rϭ 3%). Both in LN as in DF, geographic altitude correlated negatively to VLBW, NB, and RD, while it showed positive correlation to LBW, IM, NM, and PM. All correlations were statistically significant. Conclusions: In agreement with the literature, data on the complex interactions between IM and intra-uterine growth in high altitude human populations suggest that, on account of an evolutionary adaptation mechanism, gestations at high altitudes tend to restrict intra-uterine growth, and that this reduction is unable to overcome the effect of natural selection due to hypoxia and social and sanitary factors linked to high altitude.