A Rare Case of Boucher-Neuhäuser Syndrome in a Child with PNPLA6 Mutation: Expanding the Pediatric Phenotype
DOI:
https://doi.org/10.52783/jns.v14.2294Keywords:
Boucher-Neuhäuser Syndrome, PNPLA6 mutation, cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, pediatric phenotype, neurodegenerative disorder, consanguinity, multidisciplinary managementAbstract
Background: Boucher-Neuhäuser Syndrome (BNS) is a rare autosomal recessive neurodegenerative disorder characterized by the triad of cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Mutations in the PNPLA6 gene, which encodes neuropathy target esterase, have been implicated in the pathogenesis of this condition.
Case Presentation: We report a 15-year-old male, born to consanguineous parents, who presented with progressive difficulty in walking since the age of 5 years. Clinical examination revealed characteristic features including cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. Additionally, the patient exhibited short stature, coarse facies, hirsutism with trichomegaly, brachydactyly with hypoplastic nails, micropenis, bilateral pes cavus, and motor axonal polyneuropathy. Neuroimaging demonstrated cerebellar atrophy with subcortical white matter hyperintensities. Genetic analysis confirmed a homozygous mutation in the PNPLA6 gene, establishing the diagnosis of Boucher-Neuhäuser Syndrome.
Management and Outcome: The patient was managed with a multidisciplinary approach including neurorehabilitation, low vision aids, and hormone replacement therapy. Genetic counseling was provided to family members.
Conclusion: This case highlights the importance of early recognition of BNS, particularly in pediatric patients presenting with progressive ataxia combined with visual impairment and delayed puberty. While no definitive cure exists, timely interventions through a multidisciplinary approach are crucial for improving quality of life and delaying functional decline in affected individuals.
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