TABLE 1.

Diagnostic Evaluation

Test	Normal Value	Case 1	Case 2	Case 3
Infectious
WBCs: blood, 109 per L/CSF, 106 per L		7/2	12/0	12/8
CSF glucose, mg/dL	40–70	161	98	−
Influenza A DFA			3	−
Blood, urine, CSF, and stool cultures		−	−	−
CSF HSV and VZV PCR		−		−
Rabies antibody		−		−
HHV-6		1:20
Enterovirus IgM		Increased
Toxic
Lead, iron, and salicylates		−
Plasma and urine toxin screen		−
Methemoglobin and carboxyhemoglobin		−	−	−
Carboxyhemoglobin			−	−
Metabolic
Ammonia, μmol/L	<49	−	55	−
Plasma ALT, U/L	12–59	205	−	67
Plasma AST, U/L	16–41	141	−	105
CSF and plasma AAs and urine OAs		−	−	−
VLCFAs			−	−
Carnitine, total, μmol/L	31–79		−	150
Acylcarnitine			consistent with ketosis	Mild increased C4
Acylglycine			−	−
Mitochondrial antibody			−
CK, U/L	55–380		−	−
CSF lactate, mmol/L	1.1–2.8		−
Muscle biopsy			ragged red fibers, increased No./size mitochondria	normal
Mitochondrial point mutations				−
MCAD			−
Neurotransmitters: 5-HIAA	129–520		115
Homovanillic acid (HVA)	249–1115		209
Hematology, rheumatology, and immunology
CSF protein, mg/dL	15–50	112	80	−
Coagulopathy panel		−	−	−
Flow cytometry				−
IgE and IgA levels				−
Genetic
Chromosomes			46XY

− indicates normal results; +, abnormal results; WBCs, white blood cells; DFA, direct immunofluorescence; HSV, herpes simplex virus; VZV, varicella zoster virus; Ig, immunoglobulin; ALT, alanine aminotransferase; AST, aspartate aminotransferase; PCR, polymerase chain reaction; HHV-6, human herpesvirus 6; AAs, amino acids; OAs, organic acids; VLCFAs, very long-chain fatty acids; CK, creatinine kinase; MCAD, medium-chain acyl dehydrogenase; 5-HIAA, 5-hydroxyindoleacetic acid test.