ABSTRACT
Lactate is produced from anaerobic glycolysis, which occurs in most tissues in the human body. Blood lactate is tested in most physiologically unwell patients in the Emergency Department and helps to guide treatment and prognosis. Cerebrospinal fluid (CSF) lactate, however, is not often measured. Various central nervous system (CNS) conditions lead to a rise in CSF lactate, including acute neurological infection, stroke, seizures and mitochondrial pathologies. This article discusses the utility and limitations of CSF lactate, highlighting specific clinical situations where it can help in the diagnosis of CNS infections and unexplained encephalopathy.
Subject(s)
Enterovirus/isolation & purification , Lactic Acid/cerebrospinal fluid , Meningitis, Bacterial/cerebrospinal fluid , Meningitis, Viral/cerebrospinal fluid , Mitochondrial Encephalomyopathies/cerebrospinal fluid , Staphylococcal Infections/cerebrospinal fluid , Adult , Biomarkers/cerebrospinal fluid , Brain Diseases/cerebrospinal fluid , Brain Diseases/diagnosis , Central Nervous System Infections/cerebrospinal fluid , Central Nervous System Infections/diagnosis , Female , Humans , Male , Meningitis, Bacterial/diagnosis , Meningitis, Viral/diagnosis , Middle Aged , Mitochondrial Encephalomyopathies/diagnosis , Staphylococcal Infections/diagnosisABSTRACT
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity.In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM.
