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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 9A0 Case 9 History
Case 9 History ---- The patient was a 6-year-old boy with seizures and regression of vision and motor skills who was thought to represent neuronal ceroid lipofuscinosis. Operative procedure: A single ~3mm x 4mm punch skin biopsy was submitted in glutaraldehyde for analysis by electron microscopy in order to determine if this patient has the distinctive ultrastructural features of neuronal ceroid lipofuscinosis (NCL).
