title: Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.
authors.forename: Ernani B
authors.initials: EB
authors.lastname: da Rosa
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.
authors.forename: Daniélle B
authors.initials: DB
authors.lastname: Silveira
authors.affiliation: Graduation in Medicine, UFCSPA, RS, Brazil.
authors.forename: Laís G
authors.initials: LG
authors.lastname: Tsugami
authors.affiliation: Graduation in Medicine, UFCSPA, RS, Brazil.
authors.forename: Nathan L
authors.initials: NL
authors.lastname: Bellé
authors.affiliation: Pediatrics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil.
authors.forename: Izabelle O
authors.initials: IO
authors.lastname: Matos
authors.affiliation: Radiology, HMIPV, and Tomoclínica, RS, Brazil.
authors.forename: Luciano V
authors.initials: LV
authors.lastname: Targa
authors.affiliation: Fetal Medicine, HMIPV, RS, Brazil.
authors.forename: Rosilene da S
authors.initials: Rda S
authors.lastname: Betat
authors.affiliation: Fetal Medicine, HMIPV, RS, Brazil.
authors.forename: André C
authors.initials: AC
authors.lastname: da Cunha
authors.affiliation: Neogene Laboratory, Research Center (CIPE), AC Camargo Cancer Center, SP, Brazil.
authors.forename: Rolando A R
authors.initials: RA
authors.lastname: Villacis
authors.affiliation: Neogene Laboratory, Research Center (CIPE), AC Camargo Cancer Center, SP, Brazil.|Department of Urology, School of Medicine, UNESP - São Paulo State University, SP, Brazil.
authors.forename: Sílvia R
authors.initials: SR
authors.lastname: Rogatto
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.
authors.forename: Luiza E
authors.initials: LE
authors.lastname: Dorfman
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.|Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.|Clinical Genetics, HMIPV, RS, Brazil.
authors.forename: Rafael F M
authors.initials: RF
authors.lastname: Rosa
authors.affiliation: Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.|Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000293:Adolescent; D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000139:chemically induced / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000139:chemically induced / Q000000981:diagnostic imaging / Q000235:genetics; D055106:Genome-Wide Association Study; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008588:Meningocele / Q000139:chemically induced / Q000000981:diagnostic imaging / Q000235:genetics; D016595:Misoprostol / Q000008:administration & dosage / Q000009:adverse effects*; D011247:Pregnancy; D014635:Valproic Acid / Q000008:administration & dosage / Q000009:adverse effects*
chemical_list: D018398:Homeodomain Proteins; C000603255:SPATA5 protein, human; D016595:Misoprostol; D014635:Valproic Acid; D000074183:ATPases Associated with Diverse Cellular Activities
keywords: congenital cystic adenomatoid malformation; misoprostol; nasoethmoidal meningocele; prenatal diagnosis; valproic acid