INFANTILE SUBACUTE NECROTIZING ENCEPHALOPATHY
\ˈɪnfəntˌa͡ɪl sˈʌbɐkjˌuːt nˈɛkɹətˌa͡ɪzɪŋ ɛnsˌɛfɐlˈɒpəθɪ], \ˈɪnfəntˌaɪl sˈʌbɐkjˌuːt nˈɛkɹətˌaɪzɪŋ ɛnsˌɛfɐlˈɒpəθɪ], \ˈɪ_n_f_ə_n_t_ˌaɪ_l s_ˈʌ_b_ɐ_k_j_ˌuː_t n_ˈɛ_k_ɹ_ə_t_ˌaɪ_z_ɪ_ŋ ɛ_n_s_ˌɛ_f_ɐ_l_ˈɒ_p_ə_θ_ɪ]\
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A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
By DataStellar Co., Ltd
Word of the day
hydromorphic
- [Greek] Structurally adapted to an aquatic environment, as organs of water plants.
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