Case 34 – Concerns about the Future

Abstract

A 65-year-old accountant presented to the consultation to investigate whether her memory lapses are the first manifestations of Fahr’s disease. She noticed, during the last few years, a progressive difficulty in accomplishing her tasks at work. She felt tired and described that it takes her more time to prepare her reports as compared to a few years ago. She needs to read her drafts several times in order to ensure her work is complete and accurate. She also described more dependence on her personal notes to remember her tasks such as lists for shopping. During meetings and conversations at work, she described difficulties recalling people’s names. She has started to search for words during conversations. Although inconvenient, the impact of these difficulties on her work remains minimal, and she continues to take good care of her home affairs. Her husband denies that the patient is underperforming at home. She described no difficulties completing her domestic, financial, and personal obligations.

Case 34 Concerns about the Future

Sarinporn Manitsirikul , Marlee Parsons , Monica Shin , Andrea L. Benedet , Tharick A. Pascoal , Mira Chamoun , Jean-Paul Soucy , Serge Gauthier , and Pedro Rosa-Neto

34.1 Clinical History

Ten years previously, she received the diagnosis of Fahr’s disease following a brain CT conducted during a workup investigating headaches. The CT showed focal calcifications in caudate, thalami, cerebellar dentate nuclei, periventricular regions, and subcortical white matter, bilaterally. The ventricles and the rest of the brain parenchyma appeared normal. She was frightened with the possibility of becoming clinically symptomatic.

34.2 General History

The patient and her husband denied having recent sleep, cardiovascular, respiratory, or urinary problems. From the neuropsychiatric perspective, although the patient disclosed serious concerns about her future, there was no clinical history of disinhibition, reduced impulse control, substance-related disorders, stereotypical or ritualistic symptoms, hallucinations, or delusions.

34.3 Examination

Her neurological examination was normal. Her Montreal Cognitive Assessment (MoCA) score was 28/30 (impairment in naming and delayed recall). The Unified Parkinson’s Disease Rating Scale (UPDRS) was unremarkable. From a cognitive perspective, she had normal executive functions, speed of processing, visual attention, visual memory, verbal memory, working memory, and social cognition.

Laboratory tests for calcium ion, phosphorus, magnesium, hepatic and renal function tests, protein electrophoresis, TSH, free T4, and parathyroid hormone were all normal. Microbiology tests for varicella zoster virus (VZV), Hepatitis B and C, and syphilis were negative.

Brain magnetic resonance imaging (MRI) showed hypodensity in T1W and hyperintensity in T2W region of the basal ganglia (bilaterally), and no acute ischemic changes were seen in DWI or ADC (Figure 34.1). [¹⁸F]fluorodeoxyglucose (FDG) positron emission tomography (PET) scan showed decrease in cortical uptake in a non-systematic fashion, involving the right parietal lobe, left lower parietal lobe, bilateral precuneus (left worse than right), with sparing of the posterior cingulate giri. The right medial temporal lobe was also hypometabolic. The basal ganglia were markedly hypoactive. Thalamic uptake was normal. Cerebellar uptake was mildly decreased bilaterally (with right worse than left). Genetic analysis revealed a SLC20A2 mutation in c.1540delC (p.Leu514Trpfs*2).

Figure 34.1 The images reveal hyperdense frontal white matter (a), basal ganglia (b), thalamus (c), and cerebellar dentate nucleus (d) on the CT scans. Correspondent basal ganglia hypointensity were observed in T1, T2W, FLAIR, DWI, and ADC images. FDG-PET images showed significant hypometabolism in the basal ganglia as well as temporal cortex.

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