The neonate was born with holoprosencephaly

Document Type : Case Report

Authors

1 associate Professor of neonatology, Neonatal Research Center, Imam Reza Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

2 fellow ship of neonatology, Neonatal Research Center, Imam Reza Hospital, Mashhad, Iran.

Abstract

holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it
is the most common forebrain
developmental anomaly in humans with
prevalence of 1/16,000 in live borns, an
incidence as high as 1:250 in conceptuses,
and a worldwide distribution6. The
etiology of HPE is very heterogeneous.
First, this pathology can be caused by
environmental or metabolic factors. The
only formally recognized environmental
factors are insulin-dependent diabetes
mellitus (1% risk of HPE) and maternal
alcoholism with a risk that cumulates
with smoking
. Clinical expression is variable, extending in unbroken
sequence from a small brain with a single cerebral ventricle and cyclopia to
clinically unaffected carriers in familial holoprosencephaly.
Here.
we report a boy 39 weeks neonatal case of holoprosencephaly with Antenatal ultrasonographic diagnosis, with
microcephaly, hypotelorism, flat nose, a single
nostril, a midline cleft lip and palate
microcephaly.

Keywords

References

  1. Patau K, Therman DG, Cameron AH, Wolff OH. A new trisomic syndrome. Lancet. 1969; 1: 787-9.
  2. Boyd PA, Keeling JW. Congenital abnormalities: prenatal diagnosis and screening. In: Keeling JW, Khong TY, editors. Fetal and neonatal pathology. 4th ed. London: Springer; 2007. P. 123-61.
  3. Folkerth RD, Lidov HCG. Congenital malformations, perinatal diseases, and phacomatoses. In: Prayson RA, editor. Neuropathology. 2nd ed. Philadelphia: Elsevier; 2012. p. 96-182.
  4. Solomon B, Rosenbaum KN, Meck JM, Muenke M. Holoprosencephaly due to Numeric Chromosome Abnormalities. Am J Med Genet C Semin Med Genet. 2010; 154:146-8.
  5. Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004. Prenat Diagn. 2007; 27:340-7.
  6. Kundrat H. Arhinencephaliealstypische Art von Missbidung. Graz: von Leuschner and Lubensky; 1882.
  7. Marcorelles P, Laquerriere A. Neuropathology of holoprosencephaly. Am J Med Genet Semin Med Genet. 2010;154C:109-19.
  8. Yakovlev PL. Pathoarchitectonic studies in brain malformations. III. Arhinencephalies (hototelencephalies). J NeuropatholExp Neurol. 1959; 18:22-55.
  9. DeMyer WE, Zeman W. Familiaalobarholoprosencephaly (arhinencephaly) with median cleftlip and palate: Clinical, electroencephalographic, and nosologic considerations. Confin Neurol. 1963; 23:1-36.
  10.  DeMyer WE, Zeman W, Palmer C. The face predicts the brain, diagnostic significance of medial facial anomalies from holoprosencephaly (arhinencephaly). Pediatrics. 1964; 34:256‑63.
  11.  Robain O, Gorce F. Arhinencephalia. Clinical, anatomical and etiological study of 13 cases. Arch Fr Pediatr. 1972; 29:861-79.
  12. Jellinger K, Gross H. Congenital telencephalic midline defects. Neuropediatrie. 1973; 4:446-45.
  13.  Jellinger K, Gross H, Kaltenback E, Grisold W. Holoprosencephaly and agenesis of the corpus callosum: Frequency of associated malformations. ActaNeuropathol.1981; 55:1-10.
  14.  Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of HPE. AJNR Am J Neuroradiol. 1993;14:431‑40.
  15.  Olsen CL, Hughes JP, Youngblood LG, Stimac-Sharpe M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984‑1989. Am J Med Genet. 1997;73:217-26.
  16. Schultz R, Brizot MDL, Miyadahira S, Zugaib M. Holoprosencephaly in a Klinefelter fetus. Am J Med Genet. 1999;85:511-2.
  17.  Brizot ML, Schultz R, Patroni LT, Lopes LM, Armbruster-Moraes E, Zugaib M. Trisomy 10: ultrasound features and natural history after first trimester diagnosis. PrenatDiagn. 2001; 21:672-5.
  18.  Cohen MM. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A ClinMolTeratol. 2006; 76:658-73.

 

 

 

Iranian Journal of Neonatology
Volume 5, Issue 3 - Serial Number 3
December 2014
Pages 32-35

Files

Share

How to cite

Statistics