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Differential Diagnosis For PATH/Amyloid plaques CNS, Family history/Childhood CNS degenerating disease/death
List of current finding(s):
- Infectious Disorders (Specific Agent)
Creutzfeld-Jakob disease- Metabolic, Storage Disorders
Phenylketonuria/PKU
Fucosidosis (Anderson-Fabry)
Tetrahydrobiopterin deficiency/Atypical PKU- Hereditary, Familial, Genetic Disorders
Infantile neuroaxonal dystrophy
Ataxia/Oculomotor apraxia syndrome (9p13.3)
MELAS Encephalopathy
Alpers cerebral degeneration of infancy
Cerebellar ataxia, congenital/hered.
Hereditary mitochondrial disorder
Pelizaeus-Merzbacher disease- Usage, Degenerative, Necrosis, Age Related Disorders
Alzheimer's syndrome
Gerstmann-Straussler-Scheinker (GSS) Disease