Table 2

Useful findings to consider in light of specific clinical findings

Useful clinical findings for this presenting syndromeUseful investigations for this presenting syndrome
*FHx “mitochondrial” symptoms refers to family histories of deafness, diabetes, epilepsy or neurological disease.
†If variant CJD is suspected full infection control measures must accompany EEG, lumbar puncture, and intubation/general anaesthesia for any procedure such as MRI. Seek local advice.
BAEP, brainstem auditory evoked potential; CSF, cerebrospinal fluid; EEG, electroencephalogram; ERG, electroretinogram; MRI, magnetic resonance imaging; NCV, nerve conduction velocity; VLCFA, very long chain fatty acids; WCE, “white cell” (lysosomal) enzyme screen.
▸ Paraparesis/pyramidal signsPeripheral neuropathy? Eye findings? Rate of progression? Family history?MRI, NCV, CSF protein, VLCFA, WCE
▸ AtaxiaAreflexia? Dorsal column involvement? Seizures? Extrapyramidal? Eye movements? Head tremor? Conjunctivae? FHx?Cardiac function, NCV, CSF protein, lactate, cholesterol, lipoproteins, vitamin E, acanthocytes, MRI, WCE
▸ Myoclonus, seizuresAge onset, rate of progression; eye movements; hearing; seizuresEEG, ERG, BAEP, MRI, CSF lactate, skin/muscle biopsy
▸ ExtrapyramidalDysarthria? Learning difficulties? Slit lamp exam? Consider trial levodopaMRI, ERG, copper studies, acanthocytes
▸ Peripheral polyneuropathyRetinae? FHx?NCV, CSF protein, phytanic acid
▸ Visual loss/symptomsFundi; FHx “mitochondrial” symptoms*MRI, ERG, CSF lactate, muscle biopsy
▸ Fundoscopic abnormalitiesFHx “mitochondrial” symptoms
▸ Eye movement abnormalitiesFHx “mitochondrial” symptoms? Paternal FHx of “neurological disease”? Tremor? Organomegally?MRI, CSF lactate
▸ Stroke-like episodesFundi; FHx “mitochondrial” symptomsMRI, ERG, CSF lactate, muscle biopsy
▸ Episodic encephalopathyFundi; FHx “mitochondrial” symptomsMRI, ERG, CSF lactate, muscle biopsy
▸ Personality/behavioural/dementiaEye findings? Pre-existing “epilepsy”? Paternal FHx? Tendon xanthoma?Copper studies, slit lamp, MRI, EEG†