Cerebral lipidosis, now replaced by terms such as lipid storage disease and sphingolipidosis, encompasses a group of genetic disorders that induce metabolic changes and subsequent accumulation of lipids in the brain and the central nervous system. Most disorders in this group have a severe neonatal/infantile onset that may be severely debilitating and frequently life-threatening, whereas juvenile and adult forms are somewhat milder. Clinical, biochemical, and genetic studies are necessary to make the diagnosis.
Cerebral lipidosis, now replaced by the term cerebral sphingolipidoses (lysosomal lipid storage diseases or just sphingolipidoses are also used), is a group of metabolic disorders that arise from genetic mutations (predominantly autosomal recessive), which promote accumulation of lipids (sphingomyelins) and other associated products in the brain and the central nervous system (CNS)    . One of the most important features of these conditions is a severe neonatal or infantile form of the disease, distinguished by marked neurological deterioration, convulsions, both upper and lower motor neuron deficits, and weakness, all frequently leading to death in the first few years of life     . On the other hand, juvenile and adult forms show a generally slower clinical course with less severe symptoms of neurodegeneration    . The following conditions are included in this group    :
The diagnosis of cerebral lipidoses must be suspected when a neonatal or infantile onset of progressive neurological and psychomotor decline is observed. But in order to confirm clinical suspicion, a detailed patient history and a comprehensive physical examination are mandatory steps. Given the autosomal recessive pattern of inheritance, a positive family history may provide useful information. As soon as a presumptive diagnosis is made, directed genetic and biochemical studies should be employed. Several laboratory techniques have been described, but a rapid liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) assay provides a quantitative method used to evaluate lysosphingolipids in blood. This is a superior procedure that provides enough information to confirm lipid accumulation     . Molecular genetic testing (DNA sequencing) that allows identification of specific gene mutations can be performed to verify the diagnosis    .