HEPATOLENTICULAR DEGENERATION: CLINICAL DIVERSITY ANDDIFFICULTIESOFEARLY DIAGNOSIS

The aim of the study was to investigate the clinical manifestations of hepatolenticular degenerationin patients from a single family group, with assessment of combined hepatic and neurological changes, andto analyze the challenges of early diagnosis of the disease at the primary healthcare level. Thestudywasconducted in three families in which five patients were identified (two patients in each of twofamiliesandone patient in the third family). The mean age of the patients was 17.5 years; three were femaleandtwowere male. The patients were initially detected at the outpatient level and subsequently admittedtotheneurological department of the National Medical Center of the Republic of Tajikistan “Shifobakhsh”.Clinical, laboratory, and instrumental evaluation was performed with mandatory neurological assessmentand consultations with gastroenterologists. The clinical presentation was characterizedbysignificantvariability. In some patients, liver involvement predominated, whereas in others neurological manifestations,including extrapyramidal disorders, tremor, and speech impairment, were leading features. Inseveral cases,combined liver and central nervous system involvement was observed. The nonspecific natureof earlysymptoms and their gradual progression resulted in delayed diagnosis. Hepatolenticular degenerationischaracterized by marked clinical polymorphism and requires a multidisciplinary approachandincreasedawareness among primary care physicians to ensure timely diagnosis. Keywords: hepatolenticular degeneration, Wilson disease, familial forms, liver involvement,neurological manifestations, early diagnosis.

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