Magnetic resonance imaging of the kinked fetal brain stem: A sign of severe dysgenesis

Journal of Ultrasound in Medicine

Volumn 24, Issue 12, 2005, Pages 1697-1709

  Smith, Annemarie Stroustrup ^a   Levine, Deborah ^b   Barnes, Patrick D ^c   Robertson, Richard L ^d  

^a MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Brain stem; Midbrain; Prenatal diagnosis; Ventriculomegaly

Indexed keywords

GENES; MAGNETIC RESONANCE IMAGING; NEUROLOGY;

BRAIN STEM; MIDBRAIN; PRENATAL DIAGNOSIS;

BRAIN;

AUTOPSY; BRAIN MALFORMATION; BRAIN STEM; BRAIN VENTRICLE DILATATION; CORPUS CALLOSUM AGENESIS; ENCEPHALOCELE; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; HYDROCEPHALUS; HYPOPLASIA; MATERNAL AGE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; REVIEW; SCHIZENCEPHALY;

EID: 28844453293     PISSN: 02784297     EISSN: None     Source Type: Journal    
DOI: 10.7863/jum.2005.24.12.1697     Document Type: Review

References (23)

1. Sarnat H. Cerebral Dysgenesis: Embryology and Clinical Expression. New York, NY: Oxford University Press; 1992.
2. Sadler T. In: Langman's Medical Embryology. New York, NY: Lippincott Williams & Wilkins; 2000:426.
3. Patel S, Barkovich A. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002;23:1074-1087.
4. Persutte WH. Microcephaly: no small deal. Ultrasound Obstet Gynecol 1998; 11:317-318.
5. Pilu G, Falco P, Milano V, Perolo A, Bovicelli L. Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler. Ultrasound Obstet Gynecol 1998; 11:357-360.
6. McKusick V. Walker-Warburg syndrome. In: Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University, National Center for Biotechnology Information; 2005. Available at: http://www.ncbi.nlm.nih.gov/omim.
7. Pagon RA, Clarren SK, Milam DF Jr, Hendrickson AE. Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 1983; 102:542-546.
8. Williams RS, Swisher CN, Jennings M, Ambler M, Caviness VS Jr. Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology 1984; 34:1531-1541.
9. Heyer R, Ehrich J, Goebel HH, Christen HJ, Hanefeld F. Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo- muscular syndrome). Brain Dev 1986; 8:614-619.
10. Pavone L, Gullotta F, Grasso S, Vannucchi C. Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy: a Warburg syndrome variant? Neuropediatrics 1986; 17:206-211.
11. Voit T. Congenital muscular dystrophies: 1997 update. Brain Dev 1998; 20:65-74.
12. Miyata H, Chute DJ, Fink J, Villablanca P, Vinters HV. Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. Acta Neuropathol (Berl) 2004; 107:69-81.
13. Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26:93-96.
14. Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001; 32:256-263.
15. Padget DH, Lindenberg R. Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes: bizarre malformed brain with occipital encephalocele. Johns Hopkins Med J 1972; 131:228-246.
16. Altman NR, Naidich TP, Braffman BH. Posterior fossa malformations. AJNR Am J Neuroradiol 1992; 13: 691-724.
17. Barth PG, Blennow G, Lenard HG, et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Neurology 1995; 45:311-317.
18. Barth PG. Pontocerebellar hypoplasias: an overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15:411-422.
19. Barth PG. Pontocerebellar hypoplasia: how many types? Eur J Paediatr Neurol 2000; 4:161-162.
20. Castillo M, Quencer RM, Dominguez R. Chiari III malformation: imaging features. AJNR Am J Neuroradiol 1992; 13:107-113.
21. Levine D. Ultrasound versus magnetic resonance imaging in fetal evaluation. Top Magn Reson Imaging 2001; 12:25-38.
22. Levine D, Barnes P. MR imaging of fetal CNS abnormalities. In: Levine D (ed). Atlas of Fetal MRI. Boca Raton, FL: Taylor & Francis Group; 2005: 25-72.
23. Glenn OA, Goldstein RB, Li KC, et al. Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med 2005; 24:791-804.