Abstract
primary influenzae A infection. Follow-up MR brain of both siblings showed bilateral atrophic changes of basal ganglia and marked cerebral atrophy. Follow-up CT brain showed bilateral basal ganglia calcifications over caudate nuclei and putamen. MECP2 duplication, nup62 and ARX gene mutations were negative. They did not response to Ldopa, biotin (5mg/kg/day) and pyridoxine. They are severely affected by their extrapyramidal symptoms, and had acquired microcephaly and severe global developmental delay. Conclusion: This report suggested a possible role of influenzae A in the pathomechanism of IBSN in a genetically predisposed family. In view of the phenotypic similarities between IBSN and BBGD, further assessment and comparison of these disorders and their responsiveness to biotin may reveal new information regarding the mechanism of striatal necrosis.
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