A 40 year-old right-handed man complained of dysfunction in his right arm of about 6 month’s duration. Onset was gradual and associated with slurring of speech, shaking of his left hand during use, and coughing and sputtering when swallowing liquids. His father and brother had similar symptoms: after 10 years, his father became confined to a wheelchair. The patient has never consumed alcohol.The general physical exam and mental status were normal. Speech was dysarthric. Coarse nystagmus was evoked by conjugate gaze in any direction. Smooth pursuit was abnormal and saccades were dysmetric. Sensory exam was normal. Tone was mildly diminished in all limbs. No resting tremor was noted, but there was a side-to-side intention tremor of both hands, right greater than left. There was minimal difficulty with the heel-to-shin maneuver. Rhythmic hand motions were decomposed (i.e. the patient exhibited dysdiadochokinesis). Muscle strength and muscle stretch reflexes were normal. Babinski’s sign was not present. Gait was somewhat broadbased and unsteady.
Localize the lesion or lesions and What is the likely diagnosis in this case?
prøv nu at give et bud og evt. elaborate hvorfor du har valgt diagnosen. det er ikke så svært som det umildbart ser ud til fra starten, hvis man tænker lidt over det hinter alle symptomerne mod et struktur i hjernen.
Hmm. Er ening, i at det må være i lillehjernen. Intention tremor, dysdiadochokinese, dysartri og hypotoni tyder på lillehjernehemisfærelæsion. Den bredsporede gang kunne tyde på vermis dysfunktion.
Men der behøver vel strengt taget ikke være hæmisfærepåvirkning!
Måske er det en af disse arvelige cerebellare sygedomme.
lesions---->The intention tremor, dysdiadochokinesis, dysmetria, dysarthria and hypotonia all suggest cerebellar hemispheric involvement and the broad-based gait is indicative of some midline (cerebellar vermis) dysfunction.The physical findings suggest a diffuse or multifocal involvement of the cerebellar hemispheres with some involvement of midline cerebellar structures as well.
Diagnosis—>Given the strongly positive family history, indolent onset pattern and predominant pattern of cerebellar hemispheric dysfunction, the most likely diagnosis is a familial cerebellar or spinocerebellar degenerative process
Diseases associted with cerebellar syptoms could be–
Rostral vermis syndrome due to chronic alcoholism (not in this case though)
Intoxications
Posterior circulation vascular disease
Multiple sclerosis (not in this case)
Neoplasm
Paraneoplastic autoimmune syndromes
Infections or autoimmune post-infectious syndromes
Developmental abnormalities of the cerebellum
Metabolic derangements (such as aminoaciduria or hypothyroidism)
Dysdiadokokinesia (difficulty in performing rapid alternating movements)
ataxia (difficulty in coordinating movements)
tremors
loss of balance and vertigo
muscle weakness
dysarthria (loss of coordination of the muscles controlling speech)
loss of postural tone.
