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This chapter focuses on disorders due to mitochondrial respiratory chain (MRC) dysfunction and use the collective term mitochondrial cytopathy. It discusses two mtDNA disorders, myoclonus epilepsy with ragged red fibers (MERRF) and mitochondrial myopathy encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Epilepsy occurs primarily in the group of patients that develop stroke-like lesions (SLL) and seizures are often preceded by or associated with migraine-like headache. Magnetic resonance spectroscopy can demonstrate elevated lactate in regions of the brain, while positron emission tomography (PET) scanning can provide metabolic information suggesting lowered ATP production. Convulsive status epilepticus (CSE) is treated aggressively using traditional protocols. Benzodiazepine infusion is evaluated as a first line together with phosphenytoin and occasionally phenobarbital. The epilepsies in mitochondrial cytopathies often reveal both focal and generalized features. Treatment of mitochondrial cytopathies comprises awareness of the potential complications and early and aggressive control of seizures.
A case report of neonatal onset pyridoxine-dependent seizures in a male patient with early diagnosis and treatment is presented. The patient's epilepsy was recognized and treated with pyridoxine (vitamin B6) within 8 hours of birth. Treatment has been nearly continuous since that time. This paper reports the results of a full neuropsychological evaluation at age 37 years and MRI completed at age 31 years. Consistent with other case reports in the literature, there was a significant Performance IQ (PIQ) advantage with decreased Verbal IQ (VIQ) and expressive language skills (Full-Scale IQ 71, VIQ 64, PIQ 85). MRI demonstrated characteristic thinning of the posterior corpus callosum. This report provides an example of early treatment that nonetheless results in a mild mental retardation. The similarity of the structural changes on MRI and the cognitive profile of this patient to those of others reported in the literature suggest that the underlying mechanism for both may be the same.
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