title: Early peripheral nervous system manifestations of infantile Krabbe disease.
abstract: Early infantile Krabbe disease is relatively frequent in the Muslim-Arab population in Israel. It can be easily diagnosed when it presents with the classic clinical picture characterized by central nervous system manifestations of spasticity, irritability, motor regression and seizures associated with a positive family history. We studied eight children diagnosed with Krabbe disease. In two of these children (25%), peripheral neuropathy was the single initial symptom and the only neurologic finding noted for a period of months. In these patients, diagnosis of Krabbe's disease was delayed and established only 9-11 months after the initial symptoms. In two other children with "classical picture" Krabbe disease, areflexia was noted on admission. The occurrence of peripheral neuropathy as an initial symptom in early infantile Krabbe disease may be underestimated. Krabbe disease should be considered in the differential diagnosis of early infantile peripheral neuropathy. Early diagnosis of affected children might be important for genetic counseling for families at risk.
authors.affiliation: Neurological Service, Bikur Cholim Hospital, Jerusalem, Israel.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Korn-Lubetzki
authors.forename: Talia
authors.initials: T
authors.lastname: Dor-Wollman
authors.forename: Dov
authors.initials: D
authors.lastname: Soffer
authors.forename: Annick
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: Haggit
authors.initials: H
authors.lastname: Hurvitz
authors.forename: Yoram
authors.initials: Y
authors.lastname: Nevo
mesh_terms: D001706:Biopsy; D003711:Demyelinating Diseases / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology* / Q000503:physiopathology*; D008297:Male; D017933:Peripheral Nervous System / Q000473:pathology* / Q000503:physiopathology*; D012189:Retrospective Studies; D012583:Schwann Cells / Q000473:pathology