Alpers-Huttenlocher syndrome, considered a mitochondrial disease, combines
encephalopathy and liver failure. An 11-year-old boy with Alpers-Huttenlocher syndrome …

We report an 11-year-old boy with a slight developmental delay and epilepsy. After he was
placed on valproate, he developed hepatic failure and increasing neurologic symptoms …

We describe the magnetic resonance (MR) imaging findings in two patients with the clinical
diagnosis of progressive neuronal degeneration of childhood with liver disease (Alpers' …

Alpers syndrome was not clearly defined until the link between brain and liver disease was
described. Alpers syndrome can now be clearly established as a disorder of oxidative …

History A 10-year-old girl with global developmental delay and attention deficit hyperactivity
disorder was transferred from an outside hospital because of confusion and multiple …

Alpers' syndrome is a progressive neurodegenerative disorder with liver disease that usually
presents in the first few years of life. Only rarely have patients presented later in life with …

DISCUSSION Alpers syndrome is a progressive hepatocerebral disorder resulting from a
defective mitochondrial nuclear gene, POLG. The deficiency of this DNA polymerase …

Mitochondrial diseases are increasingly being recognized as causes of encephalopathy and
intractable epilepsy. There is no gold-standard test for diagnosing mitochondrial disease …

Two unrelated and previously healthy girls, aged 17 and 18, presented with a subacute
encephalopathy, visual and sensory symptoms and signs, and prominent seizures that were …

Four children, from two families, suffered from fatal degeneration of the cerebral grey matter.
Their disease was characterised by intractable epilepsy, epilepsia partialis continua …