Case (14)

[Muna1]

A 65 year old patient has progressive dementia. His wife mentions that he has urinary incontinence and an ataxic gait. what is the diagnosis and What is his CT scan likely to show?

[Kassim]

What is the diagnosis?
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. FXTAS is closely related to fragile X syndrome. Fragile X occurs when cells in the body don't product a protein produced by the fragile X mental retardation 1 gene (FMR1).
What is his CT scan likely to show?
Cortical and cerebellar atrophy
Hope this is right answer.
Kassim

[Admin]

I think the diagnosis is: Normal Pressure Hydrocephalus (NPH), because the symptoms presented with this old man (progressive dementia + Urinary incontinence and ataxic gait are Calssic triad of this disease).
Other differential diagnosis can be Parkinson's disease, Alzheimer's disease, and senility due to its chronic nature and its presenting symptoms.

The CT likely to show enlarged ventricles without atrophy.

NPH may be relieved by surgically implanting a ventriculoperitoneal shunt to drain excess cerebrospinal fluid.
Dr.Mahdi

[Muna1]

your answer is correct Admin