Investigations in Child Neurology 3640 0
Some genetic, structural and metabolic epilepsy associations Condition Clinical Investigations Down...
Investigations in Child Neurology 5631 0
EEG pattern in common epileptic seizures Seizure type Semiology Ictal EEG Ictal EMG (both deltoids) Comments ...
Investigating the neonate with abnormal neurologyHot
Investigations in Child Neurology 7953 0
Investigating Neonatal SeizuresHot
Investigations in Child Neurology 5620 0
Ischaemic forearm testHot
Investigations in Child Neurology 4281 0
This test measures basal and post-exercise venous lactate and ammonia levels. The blood lactate is measured after the fist has been clenched repeatedly for 1 minute with the arm made ischaemic using a sphygmomanometer. Samples are taken at -10 minutes (pre-exercise) and at 0, 1, 3, 5, 10 and 20 minutes following release of the cuff. A normal response is characterized by a lactate increase of 3-5 fold over baseline with a peak at 1-3 minutes post-exercise, while ammonia increases 5-10 fold over the same time. An absent or inadequate (less than 1.5-fold) increase in lactate is...
Investigations in Child Neurology 1839 0
This is a method for stressing the pterin system, but may be unreliable. It was developed as a biochemical marker for pterin synthesis defects associated with dopamine-responsive dystonia, especially GTP-CH deficiency. A dose of 100mg/kg of phenylalanine is used. A phenylalanine/tyrosine ratio >7.5 is suggestive, but not diagnostic, of a pterin synthesis defect. The phenylalanine must rise above 600umol/l. for the test to be valid. This test has low sensitivity and specificity.
Cholesterol ester traffickingHot
Investigations in Child Neurology 2100 0
Employed for definitive diagnosis of Niemann-Pick type C phenotype.
Very Long Chain Fatty AcidsHot
Investigations in Child Neurology 1837 0
Usually done in peroxisomopathies, but essential for diagnosis of DBP deficiency when plasma studies are normal.
Investigating Fatty Acid Oxidation disordersHot
Investigations in Child Neurology 2077 0
Also clinically heterogeneous but urinary organic acid and plasma carnitine and acylcarnitine studies will prompt this evaluation
Investigating Pyruvate DehydrogenaseHot
Investigations in Child Neurology 2224 0
Clinically heterogeneous, including neonatal hypotonia and epileptic seizures, Leigh and Leigh-like syndromes, episodic ataxia and paroxysmal dystonia. Lactates may be normal Basal ganglia abnormality (especially globus pallidus) may be a clue.