Useful findings to consider in light of specific clinical findings
| Useful clinical findings for this presenting syndrome | Useful 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 signs | Peripheral neuropathy? Eye findings? Rate of progression? Family history? | MRI, NCV, CSF protein, VLCFA, WCE |
| ▸ Ataxia | Areflexia? 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, seizures | Age onset, rate of progression; eye movements; hearing; seizures | EEG, ERG, BAEP, MRI, CSF lactate, skin/muscle biopsy |
| ▸ Extrapyramidal | Dysarthria? Learning difficulties? Slit lamp exam? Consider trial levodopa | MRI, ERG, copper studies, acanthocytes |
| ▸ Peripheral polyneuropathy | Retinae? FHx? | NCV, CSF protein, phytanic acid |
| ▸ Visual loss/symptoms | Fundi; FHx “mitochondrial” symptoms* | MRI, ERG, CSF lactate, muscle biopsy |
| ▸ Fundoscopic abnormalities | FHx “mitochondrial” symptoms | |
| ▸ Eye movement abnormalities | FHx “mitochondrial” symptoms? Paternal FHx of “neurological disease”? Tremor? Organomegally? | MRI, CSF lactate |
| ▸ Stroke-like episodes | Fundi; FHx “mitochondrial” symptoms | MRI, ERG, CSF lactate, muscle biopsy |
| ▸ Episodic encephalopathy | Fundi; FHx “mitochondrial” symptoms | MRI, ERG, CSF lactate, muscle biopsy |
| ▸ Personality/behavioural/dementia | Eye findings? Pre-existing “epilepsy”? Paternal FHx? Tendon xanthoma? | Copper studies, slit lamp, MRI, EEG† |