Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Figures & data

Figure 1 MRI brain on first admission. (A) (diffusion weighted imaging, DWI) and (B) (apparent diffusion coefficient, ADC): right > left restricted diffusion of parietal lobe (open arrows). (C) (fluid-attenuated inversion recovery, FLAIR): hyper-intense signal in right precuneus and parietal lobe (closed arrow), sparing white matter.

Table 1 Investigations Performed to Exclude Mimics and Chameleons of CJD³

Differential Diagnosis for sCJD	Clinical and/or Laboratory Basis for Exclusion of Diagnosis
Auto-immune encephalitides including CNS lupus	No recorded fever No pathognomonic movement disorders (dyskinesia in anti-NMDA, facio-brachial dystonic seizures in anti-VGKC) Negative for ANA, ANCA, anti-dsDNA, anti-NMDA, anti-VGKC, anti-GAD antibodies including in CSF
Primary rapidly progressive neurodegeneration including mitochondrial disease, or delirium in the context of neurodegeneration	No antecedent history suggestive of underlying neurodegeneration e.g. frontotemporal dementia MRI brain findings not compatible with dementia diagnosis No intercurrent illness (electrolyte disturbance, infection) found in blood or urine Normal CSF lactate levels
Neuro-inflammatory conditions including CNS vasculitis and sarcoidosis	Normal inflammatory markers including ESR, CRP and complement (C3, C4); normal serum angiotensin converting enzyme levels Normal CSF findings Normal CT chest and abdomen Contrast-enhanced MRI brain with angiography not in keeping with CNS vasculitis or lymphoma No response to intravenous methylprednisolone treatment
Neurotoxicity syndromes including heavy metal exposure and hypoxic encephalopathy	Serum lead, lithium and mercury levels not checked as no compatible occupational or exposure history according to the patient’s family Clinical history and examination not in keeping with hypoxic injury
Neurological malignancy including gliomatosis cerebri, carcinomatous meningitis, CNS lymphoma	Normal CSF findings x2 Normal CT chest and abdomen Patient’s family could not afford PET/CT scan at the time
CNS infections	Negative serology for HIV, syphilis, cytomegalovirus; no fungi seen on CSF staining Lyme’s disease is not endemic in Kenya therefore not tested and patient had no history of travel Pure sulcal involvement on MRI, and no evidence of immunosuppression excluded PML therefore JC virus not tested in CSF Measles in CSF not tested as sparing of white matter in MRI brain findings excluded SSPE Whipple’s disease was not investigated for, but MRI brain findings were not classical and patient had no gastro-intestinal symptoms
Metabolic, electrolyte, endocrine, hepatic and hematinic disturbances including subacute combined degeneration and extra-pontine myelinolysis	Patient did not have a history of alcohol use. Normal full blood count, urea, electrolytes including sodium and potassium, calcium, magnesium, vitamin B12, folic acid, complete thyroid function including TSH, HBA1c, random blood glucose, liver function tests, hepatitis B, hepatitis C serology No sudden change in electolytes Serum ammonia levels not available in our laboratory, but normal LFTs and liver imaging excluded hyperammonemia as a cause
Functional/psychiatric disorders	Abnormal MRI brain scan and EEG

Abbreviations: ANA, antinuclear antibody; ANCA, antineutrophil cytoplasmic antibody; CNS, central nervous system; CRP, C-reactive protein; CSF, cerebrospinal fluid; CT, computed tomography; EEG, electroencephalography; ESR, erythrocyte sedimentation rate; HBA1c, glycosylated haemoglobin; GAD, glutamic acid decarboxylase; MRI, magnetic resonance imaging; NMDA, anti-N-methyl-D-aspartate receptor; PET, positron emission tomography; PML, progressive multifocal leukoencephalopathy; sCJD, sporadic Creutzfeldt-Jakob disease; SSPE, subacute sclerosing pan-encephalitis; TSH, thyroid stimulating hormone; VKGC, voltage-gated potassium channel.

Figure 2 MRI brain on second admission one month later. (A) (DWI) (B) (ADC) and (C) (FLAIR): Bilateral symmetrical parietal cortical FLAIR hyperintense signals with restricted diffusion (open arrows) more marked in the parafalcine regions (closed arrow).

Mead S, Rudge P. CJD mimics and chameleons. Pract Neurol. 2017;17(2):113–121. doi:10.1136/practneurol-2016-001571

 PubMedGoogle Scholar