ABSTRACT
Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell transplantation, which is, in the early infantile form of the disease, most beneficial if performed before onset of clinical symptoms. In August 2006, New York State began screening all newborns for Krabbe disease. A rapid and accurate technique for assessing galactocerebrosidase activity and performing DNA mutation analysis had been developed. Interpreting these results was limited, however, because neither enzyme activity nor genetic mutation reliably predicts phenotype. A series of initiatives were therefore developed by a multidisciplinary group of neurologists, geneticists, metabolic pediatricians, neurodevelopmental pediatricians, and transplant physicians (the Krabbe Consortium of New York State) to enhance the effectiveness of the newborn screening program. A standardized clinical evaluation protocol was designed based on the available literature, criteria for transplantation for the early infantile phenotype were formulated, a clinical database and registry was developed, and a study of developmental and functional outcomes was instituted. This multidisciplinary standardized approach to evaluating infants who have positive results on newborn screening may serve as a model for other states as they begin the process of screening for Krabbe disease and other lysosomal storage disorders.
Subject(s)
Leukodystrophy, Globoid Cell/diagnosis , Neonatal Screening/organization & administration , Neonatal Screening/standards , DNA Mutational Analysis , Evoked Potentials, Auditory, Brain Stem/physiology , Evoked Potentials, Visual/physiology , Follow-Up Studies , Galactosylceramidase/analysis , Galactosylceramidase/metabolism , Hematopoietic Stem Cell Transplantation , Humans , Infant, Newborn , Leukodystrophy, Globoid Cell/genetics , Leukodystrophy, Globoid Cell/therapy , Magnetic Resonance Imaging , Models, Organizational , Neural Conduction/physiology , Neurologic Examination , New York , Referral and Consultation , Risk Assessment , Treatment OutcomeABSTRACT
Two patients with Sydenham's chorea were evaluated with positron emission tomographic (PET) scans in the active phase of the disease. One patient had repeat scanning in the recovery phase. PET scans showed hypermetabolic changes of the caudate nuclei and putamen in the active phase of Sydenham's chorea. The scan reverted to normal in the recovery phase. These changes can afford a basis for comparing concurrent serum antibody studies in the acute and recovery phases of Sydenham's chorea.
