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CASE REPORT Table of Contents   
Year : 2005  |  Volume : 15  |  Issue : 4  |  Page : 576
"Semi lobar holoprosencephaly"- a case report


Govt.Medical College,Nagpur, India

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Keywords: Semi lobar holoprosencephaly, ultrasound, computed tomography

How to cite this article:
Patil V, Taori K, Sardesai N, Ingle V. "Semi lobar holoprosencephaly"- a case report. Indian J Radiol Imaging 2005;15:576

How to cite this URL:
Patil V, Taori K, Sardesai N, Ingle V. "Semi lobar holoprosencephaly"- a case report. Indian J Radiol Imaging [serial online] 2005 [cited 2020 Oct 30];15:576. Available from: https://www.ijri.org/text.asp?2005/15/4/576/29177

   Case report Top


A three-month-old female child with facial abnormalities like cleft lip [Figure 1] presented for further evaluation. Neurosonogram [Figure 2] and computed tomography [Figure 3] showed a 'H' shaped monoventricle with partially developed temporal and occipital horns and partially fused thalami. There was also a rudimentary falx and interhemispheric fissure with partial agenesis of corpus callosum; hence the diagnosis of semi lobar holoprosencephaly was entertained.


   Discussion Top


Holoprosencephaly is a complex intracranial abnormality characterized by absent or incomplete cleavage of prosencephalon [1].Holoprosenphaly has a heterogeneous cause. Chromosomal aberration is found in about one half of the cases.

Chromosome 13 is most frequently involved. Partial deletion of chromosome 13 as well as trisomy may coexist with holoprosencephaly. Incidence is 1 in 16000 to 1 in 18000 births [2]. Holoprosencephaly as an autosomal dominant inheritance is rare but certainly exists. Recurrence risk after an isolated case of holoprosencephaly with normal chromosome is 5.6% [3].

During the fourth gestational week, neural tube forms three primary vesicles; the prosencephalon, mesencephalon and rhombencephalon. During the fifth week the prosencephalon further divides into telencephalon and diencephalons. Partial division of telencephalon results into cerebral hemispheres, which occurs by end of fifth week. Complete or partial failure in the division of developing prosencephalon into hemispheres and lobes results in holoprosencephaly [4].

Semi lobar holoprosencephaly is intermediate in severity. A somewhat 'H'shaped monoventricle with partially developed occipital and temporal horns is common. A rudimentary falx cerebri incompletely formed interhemispheric fissure and partial or complete fusion of basal ganglia is present [4]. Associated facial abnormalities include hypotelorism as well as median and lateral cleft lip [1].

 
   References Top

1.Macahan PJ, Nyberg AD, Mach AC, sonography of facial features of alobar and semi lobar holoprosencephaly AJR, 1590:154:143-148  Back to cited text no. 1    
2.BarnessEG Pros encephalon Growth Failure Potten pathology of foetus and infant.3 rd edition vol.2 Mosby: 1997:1056-1059  Back to cited text no. 2    
3.Barasten M, Winter RM, Holoprosencephaly, color atlas of congenital malformation syndrome Mosby 1996:148  Back to cited text no. 3    
4.Osborn AG Neuroradiology 1 st edition vol 1: Mosby, 1994:37-40.  Back to cited text no. 4    

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Correspondence Address:
K Taori
Department of Radiodiagnosis, Govt. Medical College, Nagpur,Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29177

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