%0 Journal Article %1 Polizzi1999 %A Polizzi, A. %A Mauceri, L. %A Ruggieri, M. %D 1999 %J Dev Med Child Neurol %K Ataxia; Brai; Cerebral Palsy; Child, Preschool; Electroencephalography; Evoked Potentials, Auditory; Failure to Thrive; Humans; Magnetic Resonance Imaging; Male; Mental Retardation; Movement Disorders; Nystagmus, Pathologic; Syndrome; n Stem %N 1 %P 51--54 %T Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient. %V 41 %X A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in Europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.

@article{Polizzi1999, abstract = {A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in Europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.}, added-at = {2014-07-19T21:03:26.000+0200}, author = {Polizzi, A. and Mauceri, L. and Ruggieri, M.}, biburl = {https://www.bibsonomy.org/bibtex/283f4059830d35e393c417c93f939c642/ar0berts}, groups = {public}, interhash = {bcf799cff4ca8608ab4c08f03f9e1d1b}, intrahash = {83f4059830d35e393c417c93f939c642}, journal = {Dev Med Child Neurol}, keywords = {Ataxia; Brai; Cerebral Palsy; Child, Preschool; Electroencephalography; Evoked Potentials, Auditory; Failure to Thrive; Humans; Magnetic Resonance Imaging; Male; Mental Retardation; Movement Disorders; Nystagmus, Pathologic; Syndrome; n Stem}, month = Jan, number = 1, pages = {51--54}, pmid = {10068051}, timestamp = {2014-07-19T21:03:26.000+0200}, title = {Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.}, username = {ar0berts}, volume = 41, year = 1999 }