Title : Familial CJD in three generations.
Abstract:
59 yrs old male presented with 11 months history of ataxia followed by 3 months history of bilateral hand action tremors. 9 month into illness he started to have cognitive decline followed by myoclonic jerks . He also had fragmented sleep with decreased total sleep duration. He had no history of headache , seizures , hemiparesis. No history of constitutional symptoms. He had significant family history of similar complaints of ataxia and demise of sixteen family members because of similar illness. His 3 generations in the family were affected(Figure 1 ) . He also had twin brother who was currently asymptomatic. His younger sister died at age of 42 because of breast cancer. On examination he had MMSE score of 10 /30.He had rigidity , tremors superimposed with myoclonic jerks and significant gait ataxia. He was worked up on lines of rapidly progressive dementia with myoclonus .On investigations his hemogram and biochemistry was within normal limits. Thyroid profile was normal.CSF analysis showed 7 cells with 83 mg/dl protein and 62 mg/dl sugar. Cryptola antigen, india ink, MTB gene xpert and malignant cytology was negative . His CSF 14-3-3 report was positive by immunoblot methodology (done by department of immunochemistry NIMHANS) (Figure 2) ). EEG was showing theta range slowing with no periodic discharges (Figure 3). MRI Brain showed diffusion restriction in bilateral basal ganglia ( Figure 4 ). NCS was suggestive of sensory motor axonal neuropathy.Nerve biopsy done showed chronic axonopathy(Figure 5 ).FDG PET whole body was normal. Autoimmune paraneoplastic panel was also reported normal . Patients family members explained about disease and prognosis and advised for genetic testing of patient / patients son for further risk of future transmission in family but currently they denied for same. Patient was started on symptomatic therapy for tremors with beta blockers ( propranolol) and given Donepezil and thiamine trial.
Conclusion:
CJD is a rare cause of rapidly cause of dementia. Once treatable cause of rapidly progressive dementia are ruled out workup for slow virus disease becomes the next very step in presence of eldery patient with myolocnus and ataxia with dementia.No proven therapeutic stratery is beneficial till now and need further studies.
