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국회도서관 홈으로 정보검색 소장정보 검색

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Mucolipidosis type IV (MLIV) is a rare autosomal recessive lysosomal storage disorder characterized by severe neurodevelopmental delay. Herein, we report the case of a female child with MLIV who received herbal medicine while continuing rehabilitation therapy. The developmental status of the patient was longitudinally evaluated using standardized assessments, including the Sequenced Language Scale for Infants, Denver Developmental Screening Test-II, and Developmental Age Referenced Breakdown Assessment Schedules. Gradual clinical improvements in gross motor participation, feeding ability, and expressive behavior were observed during the observation period. However, standardized developmental scores remained at the lowest percentile, and expressive language development showed a marked plateau compared with receptive language development. This case suggests that herbal medicine may be associated with functional improvements in daily activities in children with MLIV, although the objective developmental indices did not show corresponding percentile changes. Further studies are required to clarify the clinical significance of these findings.