Encephalopathy work-up

 

Screening tests

Serum glucose, electrolytes, calcium/phosphorus, uric acid, lactate and pyruvate, liver, renal and thyroid function tests, blood gasses

Prolactin levels (10 to 20 min after suspected seizure, diagnosis seizure vs. psychogenic nonepileptic seizure)

Serum CK

ANA, ENA, ANCA, RF, complement, ACE, anti-thyroglobulin and anti-thyroperoxidase antibodies (Hashimoto disease), autoantibody panel (thyroid antimicrosomal, antiparietal),  immunoglobulins

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

CBC, ESR, CRP, plasma fibrinogen

Coagulation profile (protein C and S, ATIII, Factor Leiden V, APLS, anticardiolipin)

Serum vitamin B12 and folic acid

RPR, TPHA

Serum cortisol, PTH and osmolality.

Serology: HIV, HSV, adenovirus, CMV, Coxsackie, polio, echovirus, hepatitis (A,B,C), parvovirus B19, mycoplasma, toxoplasma, VDRL, cysticercosis

Blood and urine organic acids and carnitine

Chest X-ray

PPD

Echocardiogram

EEG (non-convulsive status epilepticus), VEP, EMG/NCVs

Brain MRI, MRA

Conventional angiogram (CNS vasculitis)

CSF

Besides routine analysis (chemistry, cell count, smear and stainings): lactate and pyruvate (mitochondrial disease), oligoclonal bands, IgG index, VDRL, viral (measles titer), fungal, PCR (T. Whippleii, JC virus, HSV, CMV, VZV), 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)

Aminolevulinic acid, porphobilinogen, uroporphyrins, coproporphyrin

Antineural nuclear antibodies (ANNA-1(=Anti-Hu), ANNA-2 (=anti-Ri), ANNA-3, Purkinje cell cytoplasmic antibodies (PCCA-1 (=anti-Yo), PCCA-2, PCCA-Tr and mGluR1), plasma membrane cation channel antibodies (CV2/CRMP-5, Ma1, Ma2/Ta, amphiphysin, striational, voltage gated calcium channels (VGCC) and voltage gated potassium channels (VGKC), anti-NMDA-R (NR1 and NR2) antibodies.

Methylmalonic acid, VLCFA, arylsulphatase, homocysteine

 

Biopsy

 

Conjunctiva (sarcoidosis),

Small bowel (Whipple disease)

Skin (SLE, vasculitis, CADASIL)

Brain biopsy

 

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