A case of infantile neuroaxonal dystrophy-connatal Seitelberger disease

Journal of Child Neurology

Volumn 23, Issue 4, 2008, Pages 418-420

  Chow, Gabriel ^a   Padfield, C James H ^a  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

Axonal spheroids; Infantile neuroaxonal dystrophy; Seitelberger disease

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CENTRAL NERVOUS SYSTEM; CORPUS CALLOSUM; DISEASE SEVERITY; ELECTRON MICROSCOPY; FETUS ECHOGRAPHY; FLEXION CONTRACTURE; FOREHEAD; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYPOPLASIA; INFANT; INSULA; INTRAUTERINE GROWTH RETARDATION; KNEE; LABOR INDUCTION; LATERAL BRAIN VENTRICLE; MALE; MICROCEPHALY; MOTOR NERVE; MUSCLE DENERVATION; NEUROAXONAL DYSTROPHY; PERIPHERAL NERVOUS SYSTEM; PES EQUINOVARUS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; SCROTUM DISORDER; STILLBIRTH;

HUMANS; INFANT, NEWBORN; MALE; NEUROAXONAL DYSTROPHIES;

EID: 41549127577     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807308710     Document Type: Article

References (17)

1. Seitelberger F. Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathol. 1971;(Suppl V):17-29.
2. Nagashima K., Suzuki S., Ichikawa E., et al. Infantile neuroaxonal dystrophy: Perinatal onset with symptoms of diencephalic syndrome. Neurology. 1985;35:735-738.
3. Hunter AGW, Jimenez CL, Carpenter BF, Macdonald I. Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapid lethal course. Am J Med Genet. 1987;28:171-180.
4. Kamoshita S., Neustein HB, Landing BH Infantile neuroaxonal dystrophy with neonatal onset: Neuropathologic and electron microscopic observations. J Neuropathol Exp Neurol. 1968;27:300-323.
5. Fitch N., Carpenter S., Lachance RC Peronatal axonal dystrophy and osteopetrosis. Arch Pathol. 1973;95:298-301.
6. Janota I. Neuroaxonal dystrophy in the neonate. Acta Neuropathol. 1979;46:151-154.
7. Aicardi J., Castelein P. Infantile neuroaxonal dystrophy. Brain. 1979;102:727-748.
8. Ramaekers VT, Lake BD, Harding B., et al. Diagnostic difficulties in infantile neuroaxonal dystrophy. Neuropediatrics. 1987;18:170-175.
9. Gordon N. Infantile neuroaxonal dystrophy (Seitelbergers disease). Dev Med Child Neurol. 2002;44:849-851.
10. Hirano A. Neurons and astrocytes. In: Davis RL, Robertson DM, eds. Textbook of Neuropathology. Baltimore: Williams and Wilkins; 1997:58.
11. Wang AM, Schindler D., Desnik RJ Schindler disease: The molecular lesion in the N acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. J Clin Invest. 1990;86:1752-1756.
12. Fahy M., Hall J. A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genet Couns. 1990;1:3-11.
13. Porter HJ Lethal arthrogryposis mutiplex congenita (fetal akinesia deformation sequence, FADS). Pediatr Pathol. 1995;15:617-637.
14. Ozmen M., Caliskan M., Goebel HH, Apak S. Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy. Brain Dev. 1991;13:256-259.
15. Goebel HH, Kohlschutter A., Schulte FJ Rectal biopsy findings in infantile neuroaxonal dystrophy. Neuropediatrics. 1980;1:388-392.
16. Miike T., Ohtani S., Nishiyama S., Matsuda I. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. Acta Neuropathol. 1986;69:117-123.
17. Khateeb S., Flusser H., Ofir R. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet. 2006;79:942-948.