Objective: Describe a young-onset case of frontotemporal dementia (FTD) and its main differential diagnosis.

Background: Neurocognitive disorders in young people are always challenging to manage, considering the complex differential diagnosis and devastating consequences for patients and their families. Common etiologies are neurodegenerative conditions, such as Alzheimer’s disease, vascular dementia or FTD. It is essential to rule out reversible etiologies, and in particular cases to consider genetic or metabolic conditions.

Method: Case report.

Results: We present the case of a 28-year old female, formerly working pharmacist, referred by her treating psychiatrist for progressive behavioral disorder. She was overweight, had polycystic ovary syndrome and dyslipidemia. She denied any alcohol or drug consumption, toxic exposure; no significant family history was found. The psychiatric picture started to manifest one year ago, with behavioral disorder and insidious personality changes (becoming introverted, less interested in her daily tasks) and stereotypic behaviors, (e.g. frequent urinating, without a particular urological problem). The neurological exam did not show any focal deficits or parkinsonian signs. Neurocognitive assessment was challenging, as she didn’t complete any tests, due to poor cooperation and lack of concentration. It revealed, apathy, lack of self-awareness and a blunted affect. She was well oriented in time and space, recalled correctly recent and prior lifetime events. The laboratory exams showed normal liver function, copper studies, B12 level and angiotensin converting enzyme, negative viral and paraneoplastic screening. The neuroendocrine workup confirmed optimal thyroid function. Genetic testing for Huntington’s disease evidenced normal CAG repeats. Brain MRI displayed significant atrophy of the frontal lobes, with enlargement of frontal ventricular horns and incipient atrophy of both hippocampi and caudate heads. FDG- PET scan showed prominent hypometabolism in the frontal and anterior temporal lobes.

Conclusion: The diagnostic work-up and the typical cerebral PET-imaging led us to behavioral variant-FTD. The young onset-age and rather accelerated progression are the main particularities of this case, contributing to the devastating impact of a neurodegenerative condition.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/complex-differential-diagnosis-in-a-young-onset-dementia-case-leading-to-behavioral-variant-frontotemporal-dementia/