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Early peripheral nervous system manifestations of infantile Krabbe disease
Isabelle Korn-Lubetzki1, Talia Dor-Wollman, Dov Soffer
1Neurological Service, Bikur Cholim Hospital, Jerusalem, Israel.
Insights
Early infantile Krabbe disease, a genetic disorder, can present with peripheral neuropathy, delaying diagnosis. Early identification is crucial for families at risk.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Krabbe disease is a rare, fatal genetic disorder affecting the nervous system.
- Early infantile Krabbe disease is more prevalent in specific populations, such as the Muslim-Arab community in Israel.
- Classic symptoms include central nervous system issues like spasticity, irritability, motor regression, and seizures.
Observation:
- This study examined eight children diagnosed with early infantile Krabbe disease.
- Peripheral neuropathy was the sole initial symptom in 25% of cases, leading to diagnostic delays of 9-11 months.
- Areflexia was observed in some children presenting with the classic Krabbe disease picture.
Findings:
- Peripheral neuropathy may be an underrecognized initial presentation of early infantile Krabbe disease.
- The classic clinical presentation is not always the first sign, potentially delaying diagnosis.
- Early infantile Krabbe disease diagnosis can be challenging when peripheral neuropathy is the primary symptom.
Implications:
- Krabbe disease should be considered in the differential diagnosis of early infantile peripheral neuropathy.
- Prompt diagnosis is vital for genetic counseling and management of families with increased risk.
- Recognizing atypical presentations can improve outcomes for affected infants.
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.