Christidi Foteini, Kararizou Evangelia, Potagas Constantin, Triantafyllou Nikolaos I, Stamboulis Eleftherios, Zalonis Ioannis
*Neuropsychological Laboratory, First Department of Neurology †First Department of Neurology, Eginition Hospital, Medical School, National & Kapodistrian University, Athens, Greece.
Cogn Behav Neurol. 2014 Mar;27(1):51-6. doi: 10.1097/WNN.0000000000000016.
Young-onset dementias pose a major challenge to both clinicians and researchers. Cognitive decline may be accompanied by systemic features, leading to a diagnosis of "dementia plus" syndromes. Whipple disease is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, fever, and abdominal pain. Central nervous system involvement, including severe cognitive deterioration, may precede systemic manifestations, appear during the course of the disease, or even be the only symptom. We report a previously highly functional 48-year-old man whom we first suspected of having early-onset neurodegenerative dementia but then diagnosed with Whipple disease based on a detailed clinical and laboratory evaluation. Initial neuropsychological evaluation revealed marked impairment in the patient's fluid intelligence and severe cognitive deficits in his information processing speed, complex attention, memory, visuomotor and construction dexterities, problem solving, and executive functions. At neuropsychological follow-up 21 months later, his information processing speed had improved only slightly and deficits persisted in his other cognitive functions. Repeat brain magnetic resonance imaging at that time showed that he had responded to antibiotic treatment. Because Whipple disease can cause young-onset "dementia plus" syndromes that may leave patients with neurocognitive deficits even after apparently successful treatment, we recommend comprehensive neuropsychological assessment for early detection of residual and reversible cognitive processes and evaluation of treatment response.
早发性痴呆对临床医生和研究人员都构成了重大挑战。认知能力下降可能伴有全身症状，从而导致“痴呆加”综合征的诊断。惠普尔病是一种罕见的全身性疾病，其特征为关节痛、慢性腹泻、体重减轻、发热和腹痛。中枢神经系统受累，包括严重的认知功能恶化，可能在全身症状出现之前、疾病过程中出现，甚至可能是唯一症状。我们报告了一名48岁的男性，他之前功能良好，我们最初怀疑他患有早发性神经退行性痴呆，但经过详细的临床和实验室评估后诊断为惠普尔病。最初的神经心理学评估显示，患者的流体智力明显受损，在信息处理速度、复杂注意力、记忆、视觉运动和构建能力、问题解决能力及执行功能方面存在严重认知缺陷。21个月后的神经心理学随访中，他的信息处理速度仅略有改善，其他认知功能仍存在缺陷。当时重复进行的脑磁共振成像显示他对抗生素治疗有反应。由于惠普尔病可导致早发性“痴呆加”综合征，即使在治疗明显成功后，患者仍可能存在神经认知缺陷，因此我们建议进行全面的神经心理学评估，以便早期发现残留的可逆认知过程并评估治疗反应。
