%0 Journal Article %1 Straussberg1998 %A Straussberg, R. %A Brand, N. %A Gadoth, N. %D 1998 %J Neuropediatrics %K Adult; Age of Onset; Cerebral Palsy; Child; Child, Preschool; Consanguinity; Diagnosis, Differe; Diagnostic Errors; Disease Progression; Female; Glutarates; Humans; Infant; Iraq; Jews; Male; Metabolism, Inborn Movement Disorders; Optic Atrophy; Paraplegia; Syndrome; ntial %N 1 %P 54--56 %T 3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. %V 29 %X It is generally accepted that patients with cerebral palsy suffer from a static encephalopathy causing a non-progressive disorder of posture and/or movement. We describe 7 patients from 5 families who were initially diagnosed with cerebral palsy. Eventually, excessive excretion of urinary 3-methyl glutaconic acid (3-MGA) was found. The data of our 7 patients are quite similar to the clinical description of Costeff et al (1989): Jewish-Iraqi origin (7/7), consanguinity (2/7), involuntary movements (5/7), ataxia (6/7), pyramidal involvement (6/7) and optic atrophy (6/7). The cognitive functions were intact in 5/7 and 2/7 showed mild to moderate mental retardation. The mean delay in the definitive diagnosis was 9 years. Cerebral palsy-like symptoms accompanied by optic atrophy and extrapyramidal signs should call for extensive metabolic evaluation including the determination of urinary 3-MGA.

@article{Straussberg1998, abstract = {It is generally accepted that patients with cerebral palsy suffer from a static encephalopathy causing a non-progressive disorder of posture and/or movement. We describe 7 patients from 5 families who were initially diagnosed with cerebral palsy. Eventually, excessive excretion of urinary 3-methyl glutaconic acid (3-MGA) was found. The data of our 7 patients are quite similar to the clinical description of Costeff et al (1989): Jewish-Iraqi origin (7/7), consanguinity (2/7), involuntary movements (5/7), ataxia (6/7), pyramidal involvement (6/7) and optic atrophy (6/7). The cognitive functions were intact in 5/7 and 2/7 showed mild to moderate mental retardation. The mean delay in the definitive diagnosis was 9 years. Cerebral palsy-like symptoms accompanied by optic atrophy and extrapyramidal signs should call for extensive metabolic evaluation including the determination of urinary 3-MGA.}, added-at = {2014-07-19T21:30:31.000+0200}, author = {Straussberg, R. and Brand, N. and Gadoth, N.}, biburl = {https://www.bibsonomy.org/bibtex/247bce2ca67de1e6fca38f303f56ae234/ar0berts}, groups = {public}, interhash = {3c81b7d34012f749536f5b7ff718e36d}, intrahash = {47bce2ca67de1e6fca38f303f56ae234}, journal = {Neuropediatrics}, keywords = {Adult; Age of Onset; Cerebral Palsy; Child; Child, Preschool; Consanguinity; Diagnosis, Differe; Diagnostic Errors; Disease Progression; Female; Glutarates; Humans; Infant; Iraq; Jews; Male; Metabolism, Inborn Movement Disorders; Optic Atrophy; Paraplegia; Syndrome; ntial}, month = Feb, number = 1, pages = {54--56}, pmid = {9553953}, timestamp = {2014-07-19T21:30:31.000+0200}, title = {3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy.}, username = {ar0berts}, volume = 29, year = 1998 }