Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

Table 1 Laboratory results in the index patient

	Value	Normal range		Value	Normal range		Value	Normal range
Leukocyte count (109/L)	10.7 ↑	4.0-10.0	Follicle stimulating hormone (IU/L)	19.75 ↑	1.27-19.26	Intracranial pressure (mmH2O)	170	70-180
Neutrophil ratio (%)	81.6 ↑	50.0-70.0	Testosterone (nmol/L)	4.53 ↓	6.07-27.10	CSF Pandy test	+	-
Erythrocyte count (1012/L)	6.06 ↑	4.09-5.74	ACTH 12am (ng/L)	9.49	< 46	CSF erythrocyte count (106/L)	0	0-1
Hb (g/L)	126 ↓	131-172	ACTH 8am (ng/L)	43.64	7.2-63.0	CSF karyocyte count (106/L)	2	6-10
ESR (mm/h)	26 ↑	0-15	ACTH 4pm (ng/L)	13.18	< 46	CSF protein (mg/L)	680.4 ↑	150-450
Free fatty acid (μmol/L)	1127.7 ↑	100-760	Serum cortisol 12am (μg/L)	165.92	None	CSF Cl- (mmol/L)	133.6 ↑	112-120
HDL-cholesterol (mmol/L)	0.73 ↓	0.90-2.19	Serum cortisol 8am (μg/L)	267.83	52.7-224.5	CSF glucose (mmol/L)	4.32	1.5-4.5
Prolactin (mIU/L)	335 ↑	55.96-278.35	Serum cortisol 4pm (μg/L)	85.45	34.4-167.6	CSF adenosine deaminase (U/L)	1	0-5
High sensitivity thyrotropin (mIU/L)	0.24 ↓	0.38-5.58

ACTH: Adrenocorticotropic hormone; CSF: Conventional cerebrospinal fluid; ESR: Erythrocyte sedimentation rate; HDL: High-density lipoprotein.