Cranial magnetic resonance imaging findings and their relationship with neuropsychiatric findings in adult patients with lipoid proteinosis

Abstract

Aims:Lipoid proteinosis (LP) is a rare genodermatosis with relatively increased prevalence in Turkey. Dermatologists commonly recognize the disease due to the prominent mucocutaneous findings. Neuropsychiatric involvement is common, and the findings are heterogeneous. This study aimed to examine the cranial magnetic resonance imaging (MRI) findings of LP patients along with their neuropsychiatric involvement.Methods:This single-center, retrospective study included patients diagnosed with LP from March 2017 through March 2020. Demographics, neuropsychiatric complaints, and physical examination findings were retrieved from the medical records. The same radiologist evaluated all cranial MRI images to search for the calcifications within the temporal lobe, the mesolimbic region, and particularly the amygdala. The secondary end-points were the presence of additional radiological findings localized to other areas of the brain.Results:Eight patients [age, mean±standard deviation: 30.2±9.0 years (range 23-51), female: 50%] were eligible. Two (25%) patients had clear neuropsychiatric involvement. One patient had mental retardation and history of intractable epilepsy during childhood. Another patient had complaints of severe amnesia and difficulties in concentrating. Five patients (62.5%) showed the typical symmetric bean-shaped or oval calcifications in the uncal part of the temporal lobes involving the amygdala nuclei of hippocampi. In addition to the calcifications, one patient had arachnoid cysts. Cranial MRI findings were normal in the remaining three patients. MRI findings were normal in the patient with mental retardation.Conclusions:In this study, complaints and neuropsychiatric evaluation were inconsistent with the findings on cranial MRI among patients with LP.

Keywords

• lipoid proteinosis
• urban wiethe disease
• neuroimaging
• neuropsychiatric
• mucocutaneous
• multisystemic