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MRI of Alpers syndrome: images a–c represent cortical lesion in the right inferior parietal lobule. Follow-up after 1 month (in images c and d) shows resolution of the hyperintensities. Thalamic involvement was seen in the same patient (images are not shown)
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Mitochondrial disorders have been an enigma for a long time due to the varied clinical presentations. Although a genetic
confirmation will be mandatory most of the time, half the number of Leigh syndrome would be negative for genetic
mutations. There are a growing number of mutations in the clinical practice, which preclude a specific clinical exom...
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Introduction
Mitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy.
Summary
We report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m.14487T>C, a rare mitochondrial gene mutation identified on whole-genome sequencing. This mutation...
Citations
... 54 Leigh's disease usually presents with a bilateral and symmetrical hyperintense signal on T2weighted imaging, with restricted diffusion in the putamen, caudate nuclei and midbrain, beyond globus pallidum, thalamus and cerebellar dentate nuclei, which may aid in the differential diagnosis (Electronic Supplementary Material Fig. S7). 55 Succinic semialdehyde dehydrogenase deficiency 56 and methylmalonic acidaemia 54,57 are other inborn errors of metabolism that can present with symmetric alterations in the globus pallidum. Maple syrup urine disease is a aminoacidopathy in which the classic form affects neonates, and presents with marked restricted diffusion along myelinated white matter tracts (cerebellar white matter, dorsal brainstem, cerebral peduncles, posterior limb of the internal capsules, and peri-rolandic cerebral white matter). ...
POLG-associated diseases are rare causes of pharmacoresistant epilepsy and status epilepticus, especially in adult patients. Phenotypic and genotypic variability in these conditions causes the complexity of their diagnosis. In the study, we report a case of a 33-year-old female patient who developed recurrent convulsive status epilepticus with focal clonic onset at the week 22/23 of pregnancy. Intensive anti-seizure therapy was administered, including the use of valproic acid, as well as the treatment of somatic complications. Given the acute onset, the semiology of seizures, the presence of psychopathological symptoms, autoimmune etiology of the disease was initially suspected. A month after the withdrawal of valproic acid, the patient began to show signs of toxic hepatitis, which eventually led to death. According to the results of whole-exome sequencing obtained later, the patient was a carrier of a pathogenic homozygous variant c.2243G>C (p.W748S) in the POLG gene. The presented case highlights the importance of molecular genetic testing and the risk associated with valproic acid hepatotoxicity in patients with cryptogenic epileptic status.
