Chronic encephalopathy work-up

Screening tests

Serum glucose, electrolytes, calcium/phosphorus, magnesium, uric acid, liver, renal and thyroid function tests, CPK, LDH, blood gasses and anion gap, ammonium, lactate.

Drug screening: benzodiazepines, opiates, barbiturates, ethanol, theophylline, anti-epileptic drugs, tricyclic antidepressants.

Toxic screen: 24 hour urine for heavy metals

Serum cortisol, PTH and osmolality.

ANA, ENA, anti-ds-DNA, ANCA, RF, complement, ACE, anti-thyroglobulin and anti-thyroperoxidase antibodies (Hashimoto disease), autoantibody panel (antimicrosomal, antiparietal), immunoglobulins Ig(G, A, M, kappa and lambda),

Serum ceruloplasmin and copper, 24h urinary copper, slit lamp, liver biopsy (WD)

CBC, ESR

Serum vitamin B12 and folic acid

Serology: HIV, hepatitis (A,B,C), RPR, TPHA, Lyme, 

Ketones and Bence-Jones protein urine. Urinary organic acids.

Chest X-ray

PPD

Echocardiogram

EEG (non-convulsive status epilepticus)

Brain MRI, MRA, SPECT, (cerebral angiogram)

Psychometric testing

CSF

Besides routine analysis (chemistry, cell count, smear and stainings): lactate and pyruvate (mitochondrial disease), oligoclonal bands, IgG index, VDRL, viral (measles titer, western and eastern equine virus), bacterial (B. burgerdorfi), fungal (Cryptococcus), PCR (T. Whippleii, JC virus, HSV, VZV, CMV), Ziehl staining, repeated cytology,

anti-thyroglobulin and anti-thyroperoxidase antibodies (Hashimoto disease).

Specific investigations

Blood/serum

14-3-3 protein (CJD) (stable at room temperature and can be sent by regular mail)

Anti-Hu, anti-Yo antibodies, VGKC, antiphospholipid and antineuronal nuclear antibodies I and II, calcium channel antibodies, ampiphysin (paraneoplastic syndromes)

Methylmalonic acid, VLCFA, arylsulphatase, homocysteine. Plasma quantitative amino acids and carnitine and acylcarnitines.

Biopsy

Conjunctiva (sarcoidosis),

Small bowel (Whipple disease)

Skin (SLE, vasculitis, CADASIL)

Brain biopsy

Genetic studies

CAG repeat (HD)

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