Early infantile Krabbe disease: Deceptively normal magnetic resonance imaging and serial neurophysiological studies

Brain and Development

Volumn 19, Issue 7, 1997, Pages 488-491

  Zafeiriou, Dimitrios I ^a   Anastasiou, Athanasia L ^b   Michelakaki, Eleni M ^c   Augoustidou Savvopoulou, Persa A ^a   Katzos, George S ^a   Kontopoulos, Eleftherios E ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b Ippokration Hospital Thessaloniki   (Greece)

^c Institute of Child Health   (Greece)

Author keywords

Early infantile form; Evoked potential; Globoid cell leukodystrophy; Krabbe disease; Magnetic resonance imaging; Nerve conduction velocity

Indexed keywords

GALACTOSYLCERAMIDASE;

ARTICLE; CASE REPORT; DISEASE COURSE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EVOKED RESPONSE; FEMALE; GLOBOID CELL LEUKODYSTROPHY; HUMAN; INFANT DISEASE; LEUKOCYTE CULTURE; MACROCEPHALY; MUSCLE HYPOTONIA; NERVE CONDUCTION; NEUROPHYSIOLOGY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE ATROPHY; PYRAMIDAL NERVE CELL; SEIZURE; WHITE MATTER;

EID: 0030731770     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(97)00049-1     Document Type: Article

References (10)

1. Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe's disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 7th edn. New York: McGraw-Hill, 1995: 2671-2692.
2. Loonen MCB, Van Diggelen OP, Jance HC, Kleijer WJ, Aerts WFM. Late onset globoid cell leukodystrophy (Krabbe disease). Clinical and genetic delineation of two forms and their relation to the early infantile form. Neuropediatrics 1985; 16: 137-142.
3. Suzuki K. Enzymatic diagnosis of sphingolipidoses. Methods Enzymol 1978; 50: 468-471.
4. Sasaki M, Sakuragawa N, Takashima S, Hanaoka S, Arima M. MRI and CT findings in Krabbe disease. Pediatr Neurol 1991; 7: 283-288.
5. Farley TJ, Ketonen LM, Bodensteiner JB, Wang DD. Serial MRI and CT findings in infantile Krabbe disease. Pediatr Neurol 1992; 8: 455-458.
6. Finelli DA, Tarr RW, Sawyer RN, Horwitz SJ. Deceptively normal MR in early infantile Krabbe disease. Am J Neuroradiol 1994; 15: 167-171.
7. Zafeiriou DI, Michelakaki EM, Anastasiou AL, Gombakis NP, Kontopoulos EE. Serial MRI and neurophysiological studies in late infantile Krabbe disease. Pediatr Neurol 1996; 15: 240-244.
8. Darras BT, Kwan ES, Gilmore HE, Ehrenberg BL, Rabe EF. Globoid cell leukodystrophy: Cranial computed tomography and evoked potentials. J Child Neurol 1986; 1: 126-130.
9. De Meirleir LJ, Taylor MJ, Logan WJ. Multimodal evoked potential studies in leukodystrophies of children. Can J Neurol Sci 1988; 15: 26-31.
10. Yamanouchi H, Kaga M, Iwasaki Y, Sakuragawa N, Arima M. Auditory evoked responses in Krabbe disease. Pediatr Neurol 1993; 9: 387-390.