[What should the paediatrician know about hyperphenylalaninaemia?].

Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias.

Propionic acidemia and optic neuropathy: a report of two cases.

Introduction: Propionic acidemia is a metabolic disease produced by a deficiency of the enzyme propionyl-CoA carboxylase. It can lead to coma, with severe neurologic encephalopathy or present later in life with vomiting, hypotonia, and seizures. An early diagnosis with adequate treatment helps to prevent the sequelae.

[Cerebrotendinous xanthomatosis: report of one case].

Cerebrotendinous xanthomatosis is an inherited autosomal recessive disease caused by a mutation in the gene for the sterol 27-hydroxylase enzyme, which determines the accumulation of plasmatic cholestanol in various tissues. The natural history of this disease is characterized by chronic diarrhea beginning in childhood, cataract in youth, tendinous xanthomas in adulthood and later progressive neurological dysfunction manifested as dementia, psychiatric disorders, cerebellar, pyramidal or extra pyramidal signs or seizures. We report a 39 year-old male with a history of diarrhea during childhood and bilateral cataracts requiring surgery at 20 years of age, who evolves later with psychiatric disorders and bilateral increased volume in Achules tendons.

[Neurological complications following a liver transplantation: experience from a Chilean center].

Background: Orthotopic liver transplantation (OLT) is the treatment of choice for multiple acute and chronic end-stage liver diseases as well as for selected cases of liver malignancy and liver-site metabolic disorders. Neurological impairment is a major source of morbidity and mortality following OLT.

Aim: To describe the incidence and the type of neurological complications occurring in the post-operative period of OLT in patients transplanted in our hospital.