Early peripheral nervous system manifestations of infantile Krabbe disease

Isabelle Korn-Lubetzki*, Talia Dor-Wollman, Dov Soffer, Annick Raas-Rothschild, Haggit Hurvitz, Yoram Nevo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)115-118
Number of pages4
JournalPediatric Neurology
Issue number2
StatePublished - Feb 2003
Externally publishedYes


  • Early infantile form
  • Krabbe disease
  • Peripheral neuropathy


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