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Título

BROWNELL-OPPENHEIMER VARIANT OF SPORADIC CREUTZFELDT- JAKOB DISEASE: A CASE REPORT IN RECIFE

RESUMO

CASE: 61 years-old female, farmer, presented with progressive weight loss
(nearly 20 kg in 3 months), ataxic gait, imbalance and falls in October 2020, that
associated along 3 months with symmetric tremor in upper limbs, visual
hallucinations (with animals), behavior change, persecutory delusion,
incoordination, aphasia non-fluent, urinary incontinence and dysphasia. In the
end of this period, she became confined to bed and her family sought medical
care, being transferred to a tertiary neurology service to investigate encephalitis
of unknown etiology. Relatives deny infectious symptoms before the disease
onset neither similar cases with closed relatives. On physical examination, alert,
no interaction with the environment, pupilar reflex slowed down, cogwheel
hypertonia and spasticity in upper limbs, associated with Gegenhalten
paratonia. Presence of axial face reflexes, osteotendinous reflexes increased
and indifferent cutaneous-plantar reflex. Myoclonic tremor (postural and Kinect)
in upper limbs and head. Startle reflex. Laboratory without abnormalities.
Cerebral MRI showed hypersignal in frontal cortex, caudate nucleus head,
putamen, medial wall of the III ventricle and pulvinar of the thalamus (hockey
stick sign), with DWI restriction. EEG showed diffuse disorganization of the
base rhythm. CSF showed mild pleocytosis, with normal glucose and protein.
With the exclusion of the most common causes of encephalitis, the main
diagnostic hypothesis was Creutzfeldt-Jakob disease (CJD). Thus, 14-3-3
protein was measured in the CSF, with positive result. After about a month of
hospitalization, the patient died of aspiration pneumonia. DISCUSSION: CJD is
the prototype of prion diseases, with rapid progression and leading to death in
less than a year of onset the disease. The Brownell and Oppenheimer form
starts with cerebellar ataxia and dementia during the course of the disease.
EEG findings of this variant usually reveal absence of periodic sharp-wave
complexes. Most cases are sporadic, as in the case reported, but acquired and
genetic forms have already been described. It’s an exclusion diagnosis and
there is no specific treatment. FINAL COMMENTS: Prion disease must always
be considered in case of rapidly progressive dementia without defined
diagnosis, especially when associated to myoclonus and eventually, ataxia. We
emphasize that early diagnosis and identification of people in contact with the
patient is essential to prevent the spread of the disease.

Palavras Chave

Prion Proteins; Creutzfeldt Jacob Disease; Neurology