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Alger's progressive sclerosing polyiodystrophy
Last reviewed: 23.04.2024
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Alger's progressive sclerosing polyiodystrophy (OMIM 203700) was first described by BJ Alpers in 1931. The population frequency has not yet been established. It is inherited by autosomal recessive type. The localization of the gene is not established.
At the heart of the disease is a deficiency of enzymes of energy metabolism - pyruvate decarboxylase, complexes 1, 3 and 4 respiratory chain or cytochromes. Pathogenesis is associated with the development of lactic acidosis due to disruption of cellular bioenergetics.
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Symptoms of Alger's progressive sclerosing polyhistrophy
Symptoms of the disease develop in the early childhood period - in the 1-2 years of life. The disease begins with seizures (partial or generalized) and myoclonus, resistant to anticonvulsant treatment. Subsequently, a delay in psychomotor and physical development, loss of previously acquired skills, muscle hypotension, spastic paresis, increased tendon reflexes, ataxia are observed. There are episodes of vomiting, lethargy, decreased vision and hearing. Often develops hepatomegaly, jaundice, cirrhosis, liver failure, which can lead to the death of children. The disease has a progressive nature, at the age of 3-4 years such patients die.
In addition to the typical forms of acute acute neonatal and late forms of the disease. With neonatal form, the current acquires a severe character immediately after birth. They note microcephaly, intrauterine growth retardation and weight loss, chest deformation, limitation of joint mobility, micrognathia, convulsive syndrome, difficulty swallowing. With late form the first symptoms appear after 16-18 years of age.
In a biochemical study, an increase in the levels of lactic and pyruvic acids, direct and indirect bilirubin, in late diagnosis, decreased levels of albumin, prothrombin and hyperammonemia.
EEG results reveal high-amplitude slow-wave activity, polyspikes.
According to MRI - amplification of the signal on T 2 pictures in the cerebral cortex, occipital lobes and thalamus.
Morphological examination in brain tissue determines generalized brain atrophy, spongious degeneration of gray matter, neuronal death, astrocytosis. In the liver - fatty dystrophy, proliferation of bile ducts, fibrosis or cirrhosis, necrosis of hepatocytes, abnormal mitochondria (in size and shape). In biopsies of muscles, the accumulation of lipid substances is determined, a violation of the structure of the mitochondria. The phenomenon of RRF is rarely detected.