RESUMO
BACKGROUND: Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles. CASE: We report the unusual association between a nasoethmoidal meningocele and CCAM type II in a fetus exposed to valproic acid and misoprostol. The mother was an 18-year-old woman on her first pregnancy. She had a history of absence seizures since she was 5 years old. She took valproic acid from the beginning of the gestation until the end of the third month. At the end of the third month, she attempted interruption of her pregnancy using misoprostol. The fetal nasoethmoidal meningocele and CCAM type II were identified through morphological ultrasound examination and magnetic resonance imaging. A genome-wide study detected one copy number variation classified as rare, entirely contained into the SPATA5 gene. However, it does not seem to be associated to the clinical findings of the patient. CONCLUSION: To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb defects, were not observed in our case. Further reports will be very important to better understand the associations described in our study.
Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Doenças Fetais , Proteínas de Homeodomínio/genética , Meningocele , Misoprostol/efeitos adversos , Ácido Valproico/efeitos adversos , ATPases Associadas a Diversas Atividades Celulares , Adolescente , Malformação Adenomatoide Cística Congênita do Pulmão/induzido quimicamente , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/genética , Feminino , Doenças Fetais/induzido quimicamente , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Estudo de Associação Genômica Ampla , Humanos , Imageamento por Ressonância Magnética , Meningocele/induzido quimicamente , Meningocele/diagnóstico por imagem , Meningocele/genética , Misoprostol/administração & dosagem , Gravidez , Ácido Valproico/administração & dosagemRESUMO
El Sindrome de Lehman también llamado síndrome de meningoceles laterales. Se trata de una condición genética de herencia autosómica dominante que causa una alteración del tejido conectivo
Assuntos
Humanos , Feminino , Criança , Dor Lombar/congênito , Dor Lombar/diagnóstico , Meningocele/diagnóstico , Meningocele/genética , ArgentinaRESUMO
We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a consanguineous kindred. Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions.
Assuntos
Disco Óptico/anormalidades , Doenças do Nervo Óptico/genética , Doenças Renais Policísticas/genética , Adulto , Cerebelo/anormalidades , Pré-Escolar , Consanguinidade , Feminino , Homozigoto , Humanos , Masculino , Meningocele/genética , Linhagem , Gravidez , Transtornos Psicomotores/genética , Transtornos Respiratórios/genética , SíndromeRESUMO
Anterior sacral meningoceles and presacral teratomas are rare congenital malformations associated with a sacrococcygeal bony defect. The inheritance of anterior sacral meningoceles has been proposed to be X-linked dominant, whereas presacral teratomas have been reported to be autosomal dominantly inherited. Anterior meningoceles and teratomas may occur independently or in combination. We report a family in whom at least 11 individuals of three generations have partial sacral agenesis and have had either anterior sacral meningoceles, teratomas, or both. Male-to-male transmission has been documented. Although the existing literature differentiates the inheritance of anterior meningoceles from that of the teratomas, the pleiotropic effects of the gene causing these anterior sacral defects in this family is evident and is consistent with autosomal-dominant inheritance.