Table 1

Investigations

Investigations		Results
Blood	FBC, U+Es, LFTs, ammonia, lactate, metabolic screen, amino acids, TFTs, culture, PT, APTT, vitamin B₁₂, folate, VLCFA, biotinidase, acylcarnitine, osmolality, lysosomal enzymes, B-galactosidase, A-galactosidase, desialylated transferrin	All within normal limits
Urine	Amino acids, organic acids, toxicology, creatinine, osmolality	Normal
Cerebrospinal fluid	Culture, virology, protein, glucose, lactate, cell count, oligoclonal bands, glycine, serine, opening pressure	All negative
Respiratory secretions	Virology, bacteriology, H1N1	Rhinovirus Escherichia coli
Imaging	Chest x-ray	Right-middle lobe consolidation
Imaging	Skeletal survey, abdominal USS, cranial USS, CT brain, MRI brain2	Normal
Stool	PCR and culture	C botulinum type A isolated
Sleep study		Central apnoeas
EEG		Normal
Neurophysiology	Nerve conduction: left ulnar and median normal deltoid, extensor digitorum longus, first dorsal interossei = no decremental response, no increased insertional activity, no spontaneous activity	Central rather than peripheral weakness suggested on first record. Reversed pattern on repeat attempt

APTT, activated partial thromboplastin time; EEG, electroencephalography; U+Es, Urea and electrolytes; FBC, full blood count; LFTs, liver function tests; PT, prothrombin time; TFTs, thyroid function tests; USS, ultrasound scanning; VLCFA, very long chain fatty acids.