Differential diagnosis of seizures with fever
The following diagnostic possibilities exist, these not being mutually exclusive.
1. The convu...
ConditionClinicalInvestigations
Down syndrome
Infantile spasms common (2%) and easily overlooked
Interictal EEG slow general spike wav...
This test measures basal and post-exercise venous lactate and ammonia levels. The blood lactate is measured after the fist has been clenched repeat...
This is a method for stressing the pterin system, but may be unreliable. It was developed as a biochemical marker for pterin synthesis defects as...
Employed for definitive diagnosis of Niemann-Pick type C phenotype.
Usually done in peroxisomopathies, but essential for diagnosis of DBP deficiency when plasma studies are normal.