DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20193736

Antenatal diagnosis of alobar holoprosencephaly: a case report

Manjushri Waikar, Anamika Singh

Abstract


 

Holoprosencephaly (HPE) is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain/ prosencephalon of the embryo into 2 hemispheres1. We present a case of twenty-five year-old primigravida presented to the Outpatient department of Obstetrics for routine checkup and diagnosed with Alobar holoprosencephaly on 2nd level USG. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The purpose of publishing this case is to sensitize the clinicians to the classical features of holoprosencephaly on various imaging modalities and to stress the importance of its detection before 20 weeks of gestation so as to allow for legal medical termination and alleviate maternal psychological trauma of bearing a deformed fetus.


Keywords


Alobar, Antenatal Ultrasound, Holoprosencephaly, Fetal brain anomaly

Full Text:

PDF

References


Nyberg DA, Mack LA, Bronstein A, Hirsch J, Pagon RA. Holoprosencephaly: prenatal sonographic diagnosis. Am J Roentgenol. 1987 Nov 1;149(5):1051-8.

National Human Genome Research Institute. Learning about holoprosencephaly, 2012. Available at: https://www.genome.gov/genetic-disorders/holoprosencephaly.

Poenaru MO, Vilcea LD, Marin A. Holoprosencephaly: two case reports. Maedica. 2012;7(1):58-62.

K. C. Funk and M. J. Siegel, Sonography of congenital midline brain malformations, Radiographics, 1988;8(1)11-25.

R. A. Filly, D. H. Chinn, and P. W. Callen, “Alobar holoprosencephaly: ultrasonographic prenatal diagnosis,” Radiol, 1984:151(2):455-9.

Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet Part C Semin Med Genet. 2010;154C:13-21.

Demyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol. 1963;23(1):1-36.

Myer WD. Classification of cerebral malformations, Birth Defects. 1971;7(1);78-93.

O’Rahilly R, Müller F. Interpretation of some median anomalies as illustrated by cyclopia and symmelia. Teratol. 1989;40(5):409-21.

McGahan JP, Nyberg DA, Mack LA. Sonography of facial features of alobar and semilobar holoprosencephaly. AJR. Am J roentgenol. 1990 Jan;154(1):143-8.

National Institute of Neurological Disorders and Stroke. Holoprosencephaly information page, 2007. Available at: http://www.ninds.nih.gov/disorders/All-Disorders/holoprosencephaly-information-page.

A. J. Barkovich and D. Norman, Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations, Am J Roentgenol, 1989;152(2);353-60.

Arathi N, Mahadevan A, Santosh V, Yasha TC, Shankar SK. Holoprosencephaly with cyclopia–Report of a pathological study. Neurol India. 2003 Apr 1;51(2):279.

Benacerraf BR, Frigoletto Jr FD, Bieber FR. The fetal face: ultrasound examination. Radiol. 1984 Nov;153(2):495-7.

Baba K, Okai T, Kozuma S, Taketani Y. Fetal abnormalities: evaluation with real-time-processible three-dimensional US-preliminary report. Radiol. 1999 May;211(2):441-6.

Albayram S, Melhem ER, Mori S, Zinreich SJ, Barkovich AJ, Kinsman SL. Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem-initial experience. Radiol. 2002 Jun;223(3):645-51.

Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol. 1993;14:431-40.

Verrotti A, Spalice A, Ursitti F, Papetti L, Mariani R, Castronovo A, et al. New trends in neuronal migration disorders. european journal of paediatric neurology. 2010 Jan 1;14(1):1-2.

Altman NR, Altman DH, Wolfe SA, Morrison G. Three-dimensional CT reformation in children. Am J Roentgenol. 1986 Jun 1;146(6):1261-7.

Herghelegiu D, Ionescu CA, Pacu I, Bohiltea R, Herghelegiu C, Vladareanu S. Antenatal diagnosis and prognostic factors of aneurysmal malformation of the vein of Galen: a case report and literature review. Medicine. 2017 Jul;96(30).

Edison RJ, Muenke M. Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med 2004;350:1579-82.

Edison RJ, Muenke M. Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly. New England J Medicine. 2005 Jun 30;352(26):2759.

Nanni L, Schelper R, Muenke M. Molecular genetics of holoprosenchepaly. Front Biosci 2000;5:334-42.

Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK, Cyclopia and congenital cytomegalovirus infection, The American Journal of Medical Genetics, 1987;28(1);61-5.

R. Benawra, Mangurten HH, Duffell DR, Cyclopia and other anomalies following maternal ingestion of salicylates, J Pediatr, 1980;96(6):1069-71.

Barr Jr M, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, et al. Holoprosencephaly in infants of diabetic mothers. J pediatr. 1983 Apr 1;102(4):565-8.

Lehman CD, Nyberg DA, Winter TC, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal US findings in a review of 33 cases, Radiol, 1995:194(1)217–22.

Kurtz AB, Wapner RJ, Rubin CS, Cole‐Beuglet C, Ross RD, Goldberg BB. Ultrasound criteria for in utero diagnosis of microcephaly. Journal of Clinical Ultrasound. 1980 Feb;8(1):11-6.

Joó GJ, Beke A, Papp C, Tóth-Pál E, Szigeti Z, Bán Z, et al. Prenatal Diagnosis, Phenotypicand Obstetric Charact eristics of Holoprosencephaly. Fetal diagnosis and therapy. 2005;20(3):161-6.

Yuh WT, Nguyen HD, Fisher DJ. MRI of fetal central nervous system abnormalities. AJNR Am J Neuroradiol. 1994;15:459-64.

Paladini D. Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature and related correspondence. A plea to assess oranges only. Ultrasound Obstet Gynecol. 2015;45(5):625-6.