RESUMEN
Clinical data of a case of 4H syndrome admitted to the Department of Neurology, Anhui Children′s Hospital in January 2019 were retrospectively analyzed.The male patient with 2 years and 7 months old had clinical manifestations of motor and mental retardation, unstable gait, and abnormal tooth development.Head magnetic resonance imaging revealed abnormal brain white matter development.Family-wide exon detection revealed compound heterozygous mutations of the POLR3 A gene, c.3858C>A (exon29) and c. 3226G>A (exon24), which were newly detected pathogenic mutations.It is suggested that 4H syndrome should be considered in children with early developmental retardation, abnormal tooth development, and abnormal white matter.
RESUMEN
Objective To explore the clinical characteristics and molecular diagnosis of 4H syndrome.Methods The clinical data of 1 patient with 4H syndrome diagnosed by gene was retrospectively analyzed , and the clinical characteristics were analyzed combined with the literature .Results This child patient was male , 6 years and 8 months old, with hands shake for 1 years, mental and movement development backwardness , walking instability, teething delay .Ophthalmic examination showed myopia and optic atrophy .Brain MRI suggested a wide range of cerebral white matter lesions on both sides of the cerebral hemisphere .Gene examination showed POLR3A compound heterozygous mutation (c.1781T>G,c.2693delT).He was diagnosed as 4H syndrome.Conclusions The early manifestations of 4H syndrome are mental and movement development backwardness and teething delay .The main clinical features of 4H syndrome are leukodystrophy, myopia and ataxia.The genetic characteristics are POLR3A or POLR3B mutation.
RESUMEN
Objective To explore the clinical characteristics and molecular diagnosis of 4H syndrome.Methods The clinical data of 1 patient with 4H syndrome diagnosed by gene was retrospectively analyzed , and the clinical characteristics were analyzed combined with the literature .Results This child patient was male , 6 years and 8 months old, with hands shake for 1 years, mental and movement development backwardness , walking instability, teething delay .Ophthalmic examination showed myopia and optic atrophy .Brain MRI suggested a wide range of cerebral white matter lesions on both sides of the cerebral hemisphere .Gene examination showed POLR3A compound heterozygous mutation (c.1781T>G,c.2693delT).He was diagnosed as 4H syndrome.Conclusions The early manifestations of 4H syndrome are mental and movement development backwardness and teething delay .The main clinical features of 4H syndrome are leukodystrophy, myopia and ataxia.The genetic characteristics are POLR3A or POLR3B mutation.