Nelson Textbook of Pediatrics 22nd Edition | Lysosomal storage disorders (CLN1-CLN14). Progressive neurodegeneration, vision loss, seizures, dementia, myoclonus, regression. Late infantile (CLN2, TPP1 deficiency) → treatment: cerliponase alfa (intraventricular). Juvenile (CLN3, classic Batten) → fingerprint inclusions, vacuolated lymphocytes. Infantile (CLN1, PPT1 deficiency) → granular osmiophilic deposits. Diagnosis: enzyme assays (TPP1, PPT1), genetic testing, electron microscopy, vacuolated lymphocytes.
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