ABSTRACT
An asymptomatic child with antenatally diagnosed globoid cell leukodystrophy was found to have electrodiagnostic evidence of peripheral neuropathy at 7 weeks of age. The earliest prior such evidence in the literature was in a 6-month-old-child. Thus, peripheral neuropathy can be both the initial manifestation and a very early finding in Krabbe's disease.
Subject(s)
Leukodystrophy, Globoid Cell/diagnosis , Peripheral Nervous System Diseases/diagnosis , Electrodiagnosis , Female , Humans , Infant , Pregnancy , Prenatal DiagnosisABSTRACT
Nocturnal myoclonus has been identified as a cause of disturbed sleep and excessive daytime fatigue. To our knowledge, no therapy has heretofore been available to adequately control this problem. We identified this problem clinically in two patients; in one, the phenomenon was observed with a polygraphic sleep recording. Small doses of clonazepam, 1 mg, before retiring were found to specifically control the myoclonus and allow sleep patterns to return to normal.
