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Brainstem dysgenesis during the neonatal period: diagnosis and management

  • Yolanda Castilla-Fernández , Héctor Boix , Alfons Macaya , Elida Vázquez , Margarida Gratacòs and Manuel Roig-Quilis EMAIL logo
Published/Copyright: January 25, 2013
Journal of Perinatal Medicine
From the journal Journal of Perinatal Medicine Volume 41 Issue 4

Abstract

Aims: To report our neonatal management experience in patients who received a diagnosis of brainstem dysgenesis (BSD).

Patients and methods: This study retrospectively reviewed the medical records of 15 neonates with BSD diagnosed between 1984 and 2011. Data on the perinatal period, physical examination, laboratory findings, and management by systems were systematically analyzed.

Results: All cases were sporadic. Cocaine abuse and misoprostol use were recorded in two pregnancies. The reason for admission was prematurity (2 of 15), respiratory distress (8 of 15), gastroschisis (1 of 15), and abnormal neurological examination (4 of 15). Clinically, the most commonly affected cranial nerves were the 7th (13 of 15), 9th (11 of 15), 10th (8 of 15), 5th (7 of 15), 12th (7 of 15), 6th (3 of 15), 4th (1 of 15), and 3rd (1 of 15). Five patients required positive pressure ventilation during delivery room resuscitation, three had difficult airways, and two needed tracheostomy during admission. Most patients required nasogastric tube feeding shortly after birth, and four patients had a gastrostomy on discharge. Two patients died of respiratory and cardiac failure. Electromyography and nerve conduction velocity were used to exclude generalized neuromuscular disorders, and in conjunction with other neurophysiological and gastrointestinal tract studies, helped uncover the extent of brainstem involvement in most cases. Cranial magnetic resonance imaging supported the diagnosis in more than half of the patients.

Conclusions: Early diagnosis of BSD is mainly clinical, difficult to establish unless suspected, and crucial to prevent complications. Neonatal care of patients with BSD requires a comprehensive approach that must take into consideration the etiological, anatomical, and pathogenic aspects contributing to the clinical manifestations of this disorder. Care should be provided by multidisciplinary teams, in which neonatologists, pediatric neurologists, nutritionists, physical therapists, and other professionals participate, depending on the associated morbidity in order to improve its management and prognosis.

Keywords: Brainstem dysgenesis; facial diplegia; Möbius syndrome/sequence; Pierre-Robin sequence; sucking-swallowing disorders; temporo-mandibular ankylosis; velopalatine incoordination
Corresponding author: Manuel Roig-Quilis, MD, Department of Pediatric Neurology, Hospital Universitari Materno-Infantil Vall d’Hebron, Pg. Vall d’Hebron 119-129, 08035 Barcelona, Spain, Tel.: +661 840 618

The authors thank Celine Cavallo for English language support.

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The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2012-10-31
Accepted: 2012-12-20
Published Online: 2013-01-25
Published in Print: 2013-07-01

©2013 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/jpm-2012-0261
Keywords for this article
Brainstem dysgenesis; facial diplegia; Möbius syndrome/sequence; Pierre-Robin sequence; sucking-swallowing disorders; temporo-mandibular ankylosis; velopalatine incoordination

Articles in the same Issue

  1. Masthead
  2. Masthead
  3. Review article
  4. Anxious and depressive components of Edinburgh Postnatal Depression Scale in maternal postpartum psychological problems1)
  5. Original Articles – Obstetrics
  6. Isolated low-normal amniotic fluid volume in the early third trimester: association with adverse perinatal outcomesa
  7. Trends in twin pregnancies and mode of delivery during the last 30 years: inconsistency between guidelines and clinical practice
  8. Prenatal care in adult women exposed to childhood sexual abuse
  9. Maternal and fetal adropin levels in gestational diabetes mellitus
  10. Ethnic disparities in perinatal mortality at 40 and 41 weeks of gestation
  11. Polymorphisms in the activin A receptor type 2A gene affect the onset time and severity of preeclampsia in the Turkish population
  12. Outcome of isolated fetal renal pyelectasis diagnosed during midtrimester screening ultrasound and cut-off value to predict a persistent or progressive pyelectasis in utero
  13. A polymorphism in an autophagy-related gene, ATG16L1, influences time to delivery in women with an unfavorable cervix who require labor induction
  14. Management of gestational hypertension – the impact of HYPITATa
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  23. Periconceptional use of folic acid and risk of miscarriage – findings of the Oral Cleft Prevention Program in Brazil
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