RESUMEN
Acrania and anencephaly are characterized by the partial or complete absence of skull and brain tissue. Due to this, the neural tissue is exposed and it leads to non-function of few parts of the hemispheres. A total of eight cases of acrania and anencephaly were included in the report. Five cases were acrania and three cases were anencephaly. Both cases were diagnosed between 15 and 24 weeks of gestation period. In the present report, all the pregnant women carry fetuses with neural tube defects. Out of five acrania cases, there is a partial or complete absence of cranium in all the cases, and in one case, there is a twin intrauterine gestational sac that was noted. However, out of twin sac, the first one is having a good heart rate (155 bpm) and the second fetus is having no cardiac activity, i.e., early fetal demise. On the other hand, out of three anencephaly cases, two anencephaly cases were diagnosed with partial absence of the fetal brain and the complete absence of the cranium, and in one case, there is a partial absence of cerebral parenchymal tissue above the orbit with the absence of cranial vault. By the use of ultrasonography, we can diagnose the anencephaly and acrania at a very early stage without any side effects. The cause of anencephaly and acrania is dependent on the number of factors one of which is a folic acid deficiency. Sentence is reviewed and corrected): It is always better to consume the folic acid supplements that are advised by the physician during the planning of pregnancy to avoid the congenital anomalies of the fetus like anencephaly and acrania. The ultimate focus of the study is to evaluate the morphology of the fetus in case of anencephaly and acrania which could lead to the early detection of abnormalities and also to create awareness among people to take folic acid supplements to eschew such abnormalities.
RESUMEN
Aplasia cútis congênita (ACC) é uma doença rara, caracterizada pela ausência de formação completa da pele. Geralmente ocorre no couro cabeludo, na linha mediana, e se apresenta ao nascimento como uma ferida que pode atingir diferentes profundidades e envolver o periósteo, crânio e dura-máter. Apresentamos dois casos de recém-nascidos com aplasia cútis congênita no couro cabeludo que foram tratados no Centro de Atendimento Integral ao Fissurado Lábio Palatal de Curitiba- Paraná. Devido à raridade da ACC e ao pequeno número de pacientes nas séries publicadas na literatura, a padronização do tratamento ainda é incipiente. O propósito do presente trabalho é realizar uma revisão da literatura sobre os aspectos epidemiológicos, diagnóstico e formas de tratamento da ACC de couro cabeludo.
Aplasia cutis congenital (ACC) is a rare disease characterized by the absence of skin formation. Usually occurs on the scalp, in the midline, and presents at birth as a wound that can reach different depths and can involve the periosteum, skull and dura. We present two cases of newborns with congenital cutis aplasia on the scalp that were treated at the Center for Integral Assistance of Cleft Lip and Palate Curitiba-Paraná. Due to the rarity of ACC and the small number of patients in published series in the literature, standardization of treatment is still a challenge. The purpose of this paper is to review the literature on the epidemiology, diagnosis and treatment modalities of ACC of the scalp.
RESUMEN
Las malformaciones congénitas son un problema poco frecuente; considerando todas las malformaciones en conjunto, éstas se presentan en menos del 2 por ciento de los recién nacidos. Los defectos del cierre del tubo neural: anencefalia, espina bifida, acrania y meningocele, al igual que la mayoría de las malformaciones congénitas, son un grupo de afecciones de etiología multifactorial, producto de la interacción de factores genéticos y ambientales. Los factores genéticos actúan en un sistema poligenético, en el que se tienen que considerar los riesgos de recurrencia, cálculos de heredabilidad, la frecuencia de consanguineidad y las variaciones raciales, los factores ambientales, las infecciones virales, agentes físicos como la hipertemia (fiebre), deficiencia o alteraciones del metabolismo del ácido fólico, así como la exposición a diversas substancias químicas.