Table 3 Patient’s diagnostic work up, previously received diagnosis and treatment
Patient | Brain MRI | EEG | Serum | Urine | CSF | Other studies | Diagnosis prior to presentation | Treatment prior to presentation |
|---|---|---|---|---|---|---|---|---|
P1 | Normal | Normal | Normal plasma amino acids, lactate, ammonia, immunological markers, catecholamine levels | Normal urine organic acids | Normal CSF/blood glucose ratio | None | Epilepsy | Valproic acid Lamotrigine Levetiracetam |
P2 | Normal | Normal | Normal potassium level during the event, CPK, plasma amino acids, acyl carnitine profile, thyroid functions, vitamin B12 and E | Normal urine organic acids and chromatography for uroporphyrins | Low CSF/blood glucose ratio | Molecular investigation for Friedriech ataxia and serum anti-NMDA receptor were negative Pelvi-abdominal ultrasound showed accessory spleen | None | None |
P3 | Normal | Normal | Normal plasma amino acids, ammonia, lactate, CPK, acyl carnitine profile, total homocysteine level | Normal urine organic acids | None | Aromatic L-amino acid decarboxylase enzymology in plasma: Low dopamine level: 2.50 pmol/min/mL (36.00–129.00 pmol/min/mL) | Cerebral palsy and epilepsy | Valproic acid Baclofen Clonazepam |
P4 | Normal | None | CPK elevated 1067 IU/L (49–397 IU/L) | None | None | Western blot experiments on fibroblast showed reduced MICU 1 protein | Hereditary spastic paraplegia | Baclofen |
P5 | Normal | None | Normal CPK, potassium level during the event, thyroid profile, vitamin B12 | None | Negative CSF for HSV and EB virus | At the age of 6 years, RNS showed decrement consistent with myasthenia gravis At the age of of 15 years, NCS/EMG showed remote neurogenic process in proximal upper and lower extremities with no evidence of neuromuscular junction or myopathic disorder ECHO mildy dilated left ventricle | Myasthenic syndrome | IVIG Pyridostigmine |
P6a | Cerebellar atrophy | Multifocal epileptiform discharges | Positive newborn screening for Glutaric aciduria-II Plasma amino acid: severe serine deficiency (42 µmol/L) and mildly reduced glycine (96 µmol/L) | Normal urine organic acid (not performed during the acute episode) | CSF amino acid showed a severe serine deficiency (6 µmol/L), normal glycine (8 µmol/L) Low serine CSF/plasma ratio: 0.14 (Ref > 0.2) | Fibroblast culture from skin biopsy: normal fatty acid oxidation probe assay VEP/ERG mild dysfunction in the optic nerve pathways in both eyes Bilateral optic atrophy ABR normal | Possible neuronal ceroid lipofisciosis | Levetiracetam, oxcarbamazepine Clonazepam Lamotrigine valproic acid |