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blood pressure were normal. Neurological examination revealed right hemichorea with low muscle tone and increased ipsilateral stretch reflexes, positive right Babinski sign, and subtly hemiplegic gait. Diagnostic Workup Lumbar puncture was performed with normal opening pressure. Isoelectric focusing was positive for increased IgG fraction. Plasma IgG was normal

blood pressure were normal. Neurological examination revealed right hemichorea with low muscle tone and increased ipsilateral stretch reflexes, positive right Babinski sign, and subtly hemiplegic gait. Diagnostic Workup Lumbar puncture was performed with normal opening pressure. Isoelectric focusing was positive for increased IgG fraction. Plasma IgG was normal

blood pressure were normal. Neurological examination revealed right hemichorea with low muscle tone and increased ipsilateral stretch reflexes, positive right Babinski sign, and subtly hemiplegic gait. Diagnostic Workup Lumbar puncture was performed with normal opening pressure. Isoelectric focusing was positive for increased IgG fraction. Plasma IgG was normal

blood count, including neutrophil count and lymphocyte count, was appropriately elevated. Biochemical testing demonstrated elevated glutaric acid and 3-hydroxyglutaric acid on urine organic acids. Confirmatory genetic testing demonstrated a homozygous pathogenic variant in the GCDH gene. The scan displays a horizontal

blood count, including neutrophil count and lymphocyte count, was appropriately elevated. Biochemical testing demonstrated elevated glutaric acid and 3-hydroxyglutaric acid on urine organic acids. Confirmatory genetic testing demonstrated a homozygous pathogenic variant in the GCDH gene. The scan displays a horizontal

blood count, including neutrophil count and lymphocyte count, was appropriately elevated. Biochemical testing demonstrated elevated glutaric acid and 3-hydroxyglutaric acid on urine organic acids. Confirmatory genetic testing demonstrated a homozygous pathogenic variant in the GCDH gene. The scan displays a horizontal

blood count, glucose, liver and kidney function tests, celiac antibodies, fasting lipids, thyroid function tests, copper and ceruloplasmin levels, vitamin B12, creatinine kinase, alpha-fetoprotein, and immunoglobulins, were normal. Brain and spinal cord MRIs revealed mild cerebellar atrophy (CA) (Fig. 77.1) and cervical cord thinning with posterior column

blood count, glucose, liver and kidney function tests, celiac antibodies, fasting lipids, thyroid function tests, copper and ceruloplasmin levels, vitamin B12, creatinine kinase, alpha-fetoprotein, and immunoglobulins, were normal. Brain and spinal cord MRIs revealed mild cerebellar atrophy (CA) (Fig. 77.1) and cervical cord thinning with posterior column

blood count, glucose, liver and kidney function tests, celiac antibodies, fasting lipids, thyroid function tests, copper and ceruloplasmin levels, vitamin B12, creatinine kinase, alpha-fetoprotein, and immunoglobulins, were normal. Brain and spinal cord MRIs revealed mild cerebellar atrophy (CA) (Fig. 77.1) and cervical cord thinning with posterior column

blood and urine testing were requested. Diagnostic Workup Brain MRI showed megalencephaly and cerebral white matter abnormality with centripetal progression, starting from subcortical white matter and moving toward the periventricular white matter, internal capsules, and corpus callosum. The brainstem tracts, basal ganglia, and cerebellum were also involved, with