keepgoing
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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?
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| Jackofknives
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It’s clearly a movement disorder. Highly doubt it involves the basal ganglia, seems like ceebellar dysfunction.
My opinion would be inherited multiple sclerosis that have affected the cerebellum. Precise localization is not certain, but hey, do an MRI scan and check the cerebellum as well as the whole brain.
His mental status is normal now but the case doesn’t tell how his father’s and his brother’s mental status progresses.
The reason for my diagnosis upon the info I was given is that it doesn’t cope with the diseases affecting the basal ganglia with similar symptoms, namely Parkinson and Huntington. You don’t get diagnosed Parkinson at age 40 unless you take drugs, and they have resting tremors. Yes, I have a slight suspect of Huntington and I would certainly ask him about the history of his father and brother, without this info I would say it’s more likely to be cerebellum dysfunction and everything he has copes with the triad – dysequilibrium, hypotonia, dyssynergia (i.e. dysmetria, intention tremor, nystagmus, DDK)… he has them all…
Edited by Jackofknives on 04/04/07 - 06:10 AM
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| new_n_lost
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Although i have to Agree it looks more like MS picture but MS is not An Inherited diseasen then nothing else in my limited Knowldge fits the Description,
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| new_n_lost
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a Very Long Shot Olivopontocerebellar ataxia same symtoms more or less with AD inheritence. but the difference being the presence of Babinski's Sign.
Edited by new_n_lost on 04/04/07 - 06:32 AM
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| Jackofknives
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Aha NNL is on to something...
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| keepgoing
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well guyzs good,good shots by jackofknives welldone...!
answer--
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,( which could be MS too but not mentioned anything in HOPI(histroy of present illness) or anamnesis morbi.
could be MS b/c its associated with cerebellar symptoms but in this case no such history...like nnl said
other diseases associted with cerebellar syptoms could be--
Rostral vermis syndrome due to chronic alcoholism
Intoxications
Posterior circulation vascular disease
Multiple sclerosis
Neoplasm
Paraneoplastic autoimmune syndromes
Infections or autoimmune post-infectious syndromes
Developmental abnormalities of the cerebellum
Metabolic derangements (such as aminoaciduria or hypothyroidism)
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| new_n_lost
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KG u had me l;iterally thinking my brains off i had list of thses disorders but each of them is nullified by one simple fact
AGE
INHERITENCE
MUSCLE REFLEX NORMAL NO SPASICITY/ BABINSKI'S NORMAL
there is no way of getting a pin point one on this let alone on History. there were only 2 closest matches apart from MS a Inherited MEtabolic disease with a degree of Penetrance or a Ventricular Mass .
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| keepgoing
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 sorry for the confusion nnl
Edited by keepgoing on 04/05/07 - 05:35 AM
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