CEREBROHEPATORENAL SYNDROME
\səɹˈiːbɹə͡ʊhˌɛpɐtˌɔːnə͡l sˈɪndɹə͡ʊm], \səɹˈiːbɹəʊhˌɛpɐtˌɔːnəl sˈɪndɹəʊm], \s_ə_ɹ_ˈiː_b_ɹ_əʊ_h_ˌɛ_p_ɐ_t_ˌɔː_n_əl s_ˈɪ_n_d_ɹ_əʊ_m]\
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An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood (From Adams et al., Principles of Neurology, 6th ed, p946)
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