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[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus]
H Shimoizumi1, I Okabe, H Kodama
1Department of Pediatrics, Tochigi Prefectural Hospital and Welfare Center for the Crippled.
Abstract:
We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Poor feeding and vomiting were noted after one month. She was hospitalized at 6 months of age with vomiting, coma and tachypnea. Analysis of urinary organic acids revealed a massive amount methylmalonic acid. She was not vitamin B 12-responsive and was maintained on a low-protein diet. At 33 months of age, she was able to walk and speak, but she developed acute severe ketoacidosis. Involuntary movements and spastic paraplegia became evident two days after admission. Subsequently, the patient has had metabolic ketoacidosis once or twice a year. Her intelligence quotient was 47. Neurologic examination revealed spastic paraplegia and generalized hypotonicity with mild dystonia. Some relief from dystonic symptoms has been obtained through the use of L-dopa. A brain CT scan at 5 years of age disclosed bilaterally symmetric lucencies of the globus pallidus. T2-weighted brain MRI at 8 years of age showed bilateral symmetric high intensities of the globus pallidus.
Insights
Methylmalonic acidemia can cause acute extrapyramidal disorders in children following ketoacidosis. Brain imaging revealed damage to the globus pallidus, impacting motor function.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatrics
Background:
- Methylmalonic acidemia is an inherited metabolic disorder.
- Patients with methylmalonic acidemia are at risk for neurological complications.
Observation:
- A 10-year-old girl with non-vitamin B12-responsive methylmalonic acidemia developed acute extrapyramidal symptoms after severe ketoacidosis.
- Neurological examination revealed spastic paraplegia, hypotonicity, and dystonia.
- Brain imaging (CT and MRI) demonstrated bilateral symmetric globus pallidus lesions.
Findings:
- Severe ketoacidosis precipitated an acute extrapyramidal disorder in a patient with methylmalonic acidemia.
- Bilateral globus pallidus destruction was identified as the cause of the neurological deficits.
- The patient experienced developmental delays and required management for recurrent metabolic crises.
Implications:
- This case highlights the potential for acute neurological damage in methylmalonic acidemia, specifically affecting the basal ganglia.
- Understanding these mechanisms can inform early diagnosis and management strategies for affected children.
- Further research into neuroprotective interventions for metabolic disorders is warranted.