Investigating Lysosomal disordersHot
Investigations in Child Neurology 2407 0
Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of the neurological disorders which may result from a severe lysosomal enzyme deficiency, extreme caution is necessary when partial deficiency is found, particularly 'within the heterozygous range', since in some of these disorders the prevalence of heterozygosity is quite high in the normal population. The term 'pseudodeficiency' is used in lysosomal storage diseases to denote the situation in which individuals show greatly...
Biochemical investigations in BloodHot
Investigations in Child Neurology 5054 0
Biochemical investigations in UrineHot
Investigations in Child Neurology 5756 0
Investigations in Child Neurology 3037 0
Investigations in rare treatable disordersHot
Investigations in Child Neurology 7120 0
Condition Presentation Key investigations Treatment Autosomal-recessive guanosine triphosphate (GTP) cyclohydrolase 1 (AR-GCH1) deficiency without hyperphenylalaninaemia (those with high blood phenylalanine will have been detected by neonatal screening test) 'Cerebral palsy'; oculogyric crises, tremulousness, bradykinesia Avoid levodopa trial to prevent diagnostic confusion, phenylalanine loading test is simple to perform: 4 hour blood spot phenylalanine level will be high as will phenylalanine/tyrosine ratio. C5F pterins low, monoamine...
Progressive loss of skills and dementiaHot
Investigations in Child Neurology 12873 0
Investigations in Child Neurology 11594 0
Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15
Eponymous syndromes 8301 0
Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy
Comparitive genomic hybridizationHot
Neurogenetics 9017 0
Comparitive genomic hybridization (CGH) or Chromosomal microarray analysis(CMA) is a modern cytogenetic technique for analyzing variations in DNA copy-number. Alteration in DNA copy number is one of the many ways in which modification of gene expression and function occurs. The technology was initially used for studying chromosomal imbalances in solid tumours.
The Normal EEG - AdultsHot
Clinical Neurophysiology 25419 0