Congenital brainstem disconnection associated with a syrinx of the brainstem

Neuropediatrics

Volumn 39, Issue 1, 2008, Pages 1-7

  Barth, P G ^a,d   De Vries, L S ^b   Nikkels, P G J ^c   Troost, D ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Basilar artery; Brainstem disconnection; Central cerebellar nuclei; Neonate

Indexed keywords

ANAMNESIS; ARTICLE; AUTOPSY; BRAIN DISEASE; BRAIN STEM; CONGENITAL BRAINSTEM DISCONNECTION; HUMAN; MEDULLA OBLONGATA; MESENCEPHALON; MICROSCOPY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

AUTOPSY; BRAIN DISEASES; BRAIN STEM; CEREBELLAR NUCLEI; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM MALFORMATIONS; OLIVARY NUCLEUS;

EID: 45149104738     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1077049     Document Type: Article

References (18)

1. Bednarek N, Scavarda D, Mesmin F, Sabouraud P, Motte J, Morville P. Midbrain disconnection: an aetiology of severe central neonatal hypotonia. Eur J Paediatr Neurol 2005; 9: 419-422
2. Fink AJ, Englund C, Daza RA, Pham D, Lau C, Nivison M et al. Development of the deep cerebellar nuclei: transcription factors and cellmigration from the rhombic lip. J Neurosci 2006; 26: 3066-4076
3. Greitz D. Unraveling the riddle of syringomyelia. Neurosurg Rev 2006; 29: 251-253
4. Harding BN, Boyd SG. Intractable seizures from infancy can be associated with dentato-olivary dysplasia. J Neurol Sci 1991; 104: 157-165
5. Kobori JA, Herrick MK, Urich H. Arhinencephaly. The spectrum of associated malformations. Brain 1987; 110 (Pt 1): 237-260
6. Mamourian AC, Miller G. Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? Am J Neuroradiol 1994; 15: 1483-1485
7. Martland T, Harding BN, Morton RE, Young I. Dentato-olivary dysplasia in sibs: an autosomal recessive disorder? J Med Genet 1997; 34: 1021-1023
8. MacCann E, Pilling D, Hesseling M, Roberts D, Subhedar N, Sweeney E. Pontomedullary disconnection: fetal and neonatal considerations. Pediatr Radiol 2005; 35: 812-814
9. Milhorat ThH, Capocelli AL, Anzil AP, Kotzen RM, Milhorat RH. Pathological basis of spinal cord cavitation in syringomyelia: analysis of 105 autopsy cses. J Neurosurg 1995; 82: 802-812
10. Murofushi K. Normalentwicklung und Dysgenesien von Dentatum und Oliva Inferior. Acta Neuropathol (Berl) 1974; 27: 317-328
11. Poretti A, Boltshauser E, Plecko B. Brainstem disconnection: case report and review of the literature. Neuropediatrics 2007; 38: 210-212
12. Raspall M, Ortega-Aznar A, del Toro M, Roig M, Macaya A. Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia. Pediatr Neurol 2006; 34: 132-134
13. Robain O, Dulac O. Early epileptic encephalopathy with suppression bursts and olivary-dentatedysplasia. Neuropediatrics 1992; 23: 162-164
14. Saito Y, Kobayashi M, Itoh M, Saito K, Mizuguchi M, Sasaki H et al. Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy. J Neuropathol Exp Neurol 2003; 62: 497-508
15. Saito Y, Hayashi M, Miyazono Y, Shimogama T, Ohno K. Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivarydysplasia. Brain Dev 2006; 28: 261-264
16. Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene - report of 2 cases in early infancy. Pediatr Dev Pathol 2002; 5: 54-68
17. Singh V, Boesel CP, Baker P. Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. Clin Neuropathol 2004; 23: 28-33
18. Trinka E, Rauscher C, Nagler M, Moroder T, Ladurner G, Irnberger E et al. A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies. Epilepsia 2001; 42: 950-953