Early peripheral nervous system manifestations of infantile Krabbe disease

Title

Early peripheral nervous system manifestations of infantile Krabbe disease

Creator

Korn-Lubetzki I; Dor-Wollman T; Soffer D; Raas-Rothschild A; Hurvitz H; Nevo Y

Publisher

Pediatric Neurology

Date

2003

Subject

Female; Humans; Male; Biopsy; Family Health; infant; retrospective studies; Diagnosis; Differential; Demyelinating Diseases/pathology/physiopathology; Globoid Cell/pathology/physiopathology; Inclusion Bodies/pathology; Leukodystrophy; Peripheral Nervous System/pathology/physiopathology; Schwann Cells/pathology

Description

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.
2003

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Citation

Korn-Lubetzki I; Dor-Wollman T; Soffer D; Raas-Rothschild A; Hurvitz H; Nevo Y, “Early peripheral nervous system manifestations of infantile Krabbe disease,” Pediatric Palliative Care Library, accessed February 2, 2023, https://pedpalascnetlibrary.omeka.net/items/show/12999.

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