Septopreoptic Holoprosencephaly: a Mild Subtype Associated with Midline Craniofacial Anomalies

Overview

Journal AJNR Am J Neuroradiol

Specialty Neurology

Date 2010 May 22

PMID 20488907

Citations 18

Authors

J S Hahn

P D Barnes

N J Clegg

E E Stashinko

Affiliations

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Abstract

HPE is a congenital brain malformation characterized by failure of the prosencephalon to divide into 2 hemispheres. We have identified 7 patients who have a mild subtype of HPE in which the midline fusion was restricted to the septal region or preoptic region of the telencephalon. This subtype, which we call septopreoptic HPE, falls in the spectrum of lobar HPE, but lacks significant frontal neocortical fusion seen in lobar HPE. Other imaging characteristics include thickened or dysplastic fornix, absent or hypoplastic anterior CC, and single unpaired ACA. The SP was fully formed in 4, partially formed in 2, and absent in 1. Mild midline craniofacial malformation, such as SMMCI and CNPAS were found in 86% and 71%, respectively. Patients outside of infancy often manifested language delay, learning disabilities, or behavioral disturbances, while motor function was relatively spared.

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References

Chan E, Ng D, Chong A, Hui Y, Fu Y . Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. Int J Pediatr Otorhinolaryngol. 2005; 69(1):93-6. DOI: 10.1016/j.ijporl.2004.07.011. View

Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V . Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. Am J Med Genet A. 2004; 127A(1):93-95. DOI: 10.1002/ajmg.a.20685. View

Guilmin-Crepon S, Garel C, Baumann C, Bremond-Gignac D, Bailleul-Forestier I, Magnier S . High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis. Pediatr Res. 2006; 60(4):478-84. DOI: 10.1203/01.pdr.0000238380.03683.cb. View

Hui Y, Friedberg J, Crysdale W . Congenital nasal pyriform aperture stenosis as a presenting feature of holoprosencephaly. Int J Pediatr Otorhinolaryngol. 1995; 31(2-3):263-74. DOI: 10.1016/0165-5876(94)01096-g. View

Hattori H, Okuno T, Momoi T, Kataoka K, MIKAWA H, Shiota K . Single central maxillary incisor and holoprosencephaly. Am J Med Genet. 1987; 28(2):483-7. DOI: 10.1002/ajmg.1320280226. View

Simon E, Hevner R, Pinter J, Clegg N, Miller V, Kinsman S . Assessment of the deep gray nuclei in holoprosencephaly. AJNR Am J Neuroradiol. 2000; 21(10):1955-61. PMC: 7974288. View

Lewis A, Simon E, Barkovich A, Clegg N, Delgado M, Levey E . Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype. Neurology. 2002; 59(12):1860-5. DOI: 10.1212/01.wnl.0000037483.31989.b9. View

El-Jaick K, Fonseca R, Moreira M, Ribeiro M, Bolognese A, Dias S . Single median maxillary central incisor: new data and mutation review. Birth Defects Res A Clin Mol Teratol. 2007; 79(8):573-80. DOI: 10.1002/bdra.20380. View

Tavin E, Stecker E, Marion R . Nasal pyriform aperture stenosis and the holoprosencephaly spectrum. Int J Pediatr Otorhinolaryngol. 1994; 28(2-3):199-204. DOI: 10.1016/0165-5876(94)90012-4. View

10.

Simon E, Hevner R, Pinter J, Clegg N, Delgado M, Kinsman S . The middle interhemispheric variant of holoprosencephaly. AJNR Am J Neuroradiol. 2002; 23(1):151-6. PMC: 7975493. View

11.

Simon E, Barkovich A . Holoprosencephaly: new concepts. Magn Reson Imaging Clin N Am. 2001; 9(1):149-64, viii-ix. View

12.

Plawner L, Delgado M, Miller V, Levey E, Kinsman S, Barkovich A . Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain. Neurology. 2002; 59(7):1058-66. DOI: 10.1212/wnl.59.7.1058. View

13.

Golden J . Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev. 1999; 21(8):513-21. DOI: 10.1016/s0387-7604(99)00067-4. View

14.

Berry S, Pierpont M, GORLIN R . Single central incisor in familial holoprosencephaly. J Pediatr. 1984; 104(6):877-80. DOI: 10.1016/s0022-3476(84)80485-0. View

15.

Griffiths P, Batty R, Reeves M, Connolly D . Imaging the corpus callosum, septum pellucidum and fornix in children: normal anatomy and variations of normality. Neuroradiology. 2009; 51(5):337-45. DOI: 10.1007/s00234-009-0506-y. View

16.

Hahn J, Barnes P . Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 2010; 154C(1):120-32. DOI: 10.1002/ajmg.c.30238. View