A case of Creutzfeldt-Jakob Disease

Posted by Dr. Thamburaj Dr. Thamburaj
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 by Dr. R. Sridharan,
Neurologist                                              

Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disease of unknown cause. H.G. Creutzfeldt is credited with the first description of the disorder in 1920, although by current diagnostic criteria his case would be highly atypical.

CJD occurs worldwide with a roughly even incidence of between 0.5-1.0 cases per million per year.

The majority of cases are sporadic (85%), between 10-15% are familial and the remainder are iatrogenic.

It is neurodegenerative disease which is inherited, sporadic and infective.

In 1974 a case of iatrogenic CJD due to corneal transplantation occurred and subsequently contaminated neuro-surgical instruments, dural grafts, and brain depth electrodes have all been recognized as transmitting the disease.

In 1985 the first case was reported in a recipient of contaminated human derived growth hormone and subsequently over 60 similar cases have arisen world-wide in addition to 4 cases associated with human derived gonadotrophin.

The familial occurrence of CJD has been recognized for many years but was unexplained. The discovery of linkage to a region on the short arm of chromosome 20 has led recently to the elucidation of various dominantly inherited mutations.

Patients are usually aged between 50 and 75 and typical clinical features include a rapidly progressive dementia associated, myoclonus and a characteristic electroencephalographic pattern. Neuropathological examination reveals cortical spongiform change, hence the term `spongiform encephalopathy'.  

We present a case of CJD for its rarity.

This 72 years old man from West Bengal, came to us with irrelevant talking, loss of memory for recent events and behavioral disturbances since a month. Since two weeks, he developed difficulty in walking with involuntary jerks which was observed at sleep as well by the relatives. He is noted to be incontinent of urine and stools lately.

He is a known hypertensive on regular medications. He was a non-vegetarian 20 years ago, but a strict vegetarian presently.

There is no history of seizures or fever or trauma.

There is no history any addiction or alcoholism.

There is no family history of similar complaints.

He was seen by a Neurologist and a Psychiatrist, elsewhere and put on antipsychotics with no benefit.

 

On clinical examination, his vital signs were normal.

He was disoriented with incomprehensible verbal response.

His pupills were normal and normally reacting.

He had pipe rigidity of all four limbs with grossly normal power.

His deep tendon reflexes were exaggerated with down-going plantars.

Systemic examination was within normal limits.  

Investigations, including hemogram, peripheral smear, serum VDRL, HIV-I/II, serum B12/folate levels, were normal.

Thyroid, renal, and liver parameters and CSF studies were with in normal limits.
                                 
                               

CT scan brain was noncontributory. MRI T2 scan showed  high intensity lesions affecting the basal ganglia caudate and putamen symmetrically, with relative sparing of the palladium.


                               

EEG showing periodic discharges of sharp waves, which are bilateral, though better expressed on the right side. These sharp waves occur at a frequency of almost 1/second. Such changes are characteristic of Creutzfeld Jacob disease

Brain biopsy was not consented.

The clinical picture of rapidly progressive dementia with myoclonic jerks and the characteristic EEG are compatible with the diagnosis of CJF.