11 March 2023
: Case report 
Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease with a Variety of Visual Symptoms: A Case Report with Autopsy Study
Challenging differential diagnosis, Rare disease
Yoshio Hisata12ABDEF, Shun Yamashita1ABDEF*, Masaki Tago1ABDEF, Motoi Yoshimura3CDF, Tomotaro Nakashima4ABDF, Tomoyo M. Nishi1ABF, Yoshimasa Oda5ABF, Hiroyuki Honda3CDF, Shu-ichi Yamashita1DEFDOI: 10.12659/AJCR.938654
Am J Case Rep 2023; 24:e938654
Table 1. Laboratory data.
| Complete Blood Count | ||
|---|---|---|
| Red blood cells | 470 | ×10/μL |
| White blood cells | 6.8 | ×10/μL |
| Neutrophil | 74.9% | |
| Lymphocyte | 19.3% | |
| Platelet count | 19.1 | ×10/μL |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| Chemistry | ||
| AST | 68 | IU/L |
| ALT | 13 | IU/L |
| LDH | 601 | IU/L |
| BUN | 19.8 | mg/dL |
| Serum creatinine | 0.48 | mg/dL |
| Sodium | 137 | mEq/L |
| Potassium | 4.6 | mEq/L |
| Chloride | 98 | mEq/L |
| Calcium | 9.6 | mg/dL |
| C-reactive protein | 0.14 | mg/dL |
| Ammonia | 52 | μg/dL |
| Glucose | 149 | mg/dL |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| Endocrine function tests | ||
| TSH | 1.24 | μIU/mL |
| Free thyroxine | 2.1 | ng/dL |
| ACTH | 16.3 | pg/mL |
| Cortisol | 42.65 | μg/dL |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| Infectious disease tests | ||
| HBV-Ag | (-) | |
| HCV-Ab | (-) | |
| Serological test for syphilis | (-) | |
| IGRA | (-) | |
| HTLV-1 | (-) | |
| HIV-Ab | (-) | |
| Beta-(1,3)-D-glucan | <1.2 | pg/mL |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| Autoimmune disease tests | ||
| ANA | (-) | |
| ANCA | (-) | |
| Anti-aquaporin-4 antibody | (-) | |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| Blood concentration test | ||
| Digitalis | 0.6 | ng/mL |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||
| CSF examinations (on 2nd hospital day) | ||
| Opening pressure | 6.5 | cm of water |
| Color | Colorless | |
| Turbidity | Clear | |
| Cell count | 1 | ×10/L |
| Protein | 0.23 | g/L |
| Glucose | 78 | mg/dL |
| Tau protein | >2200 | pg/mL |
| 14-3-3 protein | >500 | μg/mL |
| RTQuIC | Positive | |
| AST – aspartate aminotransferase; ALT – alanine aminotransferase; LDH – lactate dehydrogenase; BUN – blood urea nitrogen; TSH – thyroid-stimulating hormone; ACTH – adrenocorticotropic hormone; HBV-Ag – hepatitis B virus surface antigen; HCVAb – hepatitis C virus antibody; IGRA – interferon-gamma release assay; HTLV-1 – human T-cell leukemia virus type 1; HIV-Ab – human immunodeficiency virus antibody; ANA – antinuclear antibody; ANCA – antineutrophil cytoplasmic antibody; CSF – cerebrospinal fluid; RTQuIC – real-time quaking-induced conversion. | ||