Hippocampal sclerosis, mesial sclerosis, cognitive deterioration, cherry red spots, and splenomegaly: A diagnostic challenge in an unfavorable setting
Aamir Jalal Al-Mosawi
Background: Many practicing physicians cannot acquire adequate professional knowledge, experience and awareness of the manifestations of many rare diseases that is clearly attributed to their large number. It is generally challenging to diagnose a rare disease or disorder because it isimpracticable for physicians to be familiar with thousands of rare conditions. In many geographic areas, diagnostic challenges are increased by lack of diagnostic facilities, and inability to have adequate follow of patients or to complete their diagnostic work-up. We have previously described our effective diagnostic approach which helped us in documenting the diagnosis of many rare disorders despite various limitations. The aim of this paper is to describe the approach used in facing a diagnostic challenge which was increased by the lack of information about the clinical history of the illness including family history and past history as the patient was an orphan that was transferred temporarily to Baghdad in an emergency situation from the province of Mosul following the huge turmoil associated with emergence of ISIS in Mosul. Patients and Methods: A 17-year old orphan who had cognitive impairment, dysarthria, gait abnormalities, bilateral macular cherry red spots, mild hyperbilirubinemia, mild splenomegaly, and mild right hippocampal sclerosis on brain MRI was studied. Results: The key in the approach to the diagnosis of this case was focusing on the presence of macular cherry red spots and considering the disorders associated with it and with other manifestations especially hippocampal sclerosis. When considering the age of the patients, clinicians with extensive clinical experience can tell confidently that the patient had a late onset (Juvenile or adult form) of Niemann-Pick disease. Conclusion: Despite the unfavorable diagnostic setting, it was possible to document the occurrence of the first case of Niemann-Pick disease. The involvement of hippocampal involvement is well recognized, but its detection on MRI has been infrequently reported. This paper emphasized the association of Niemann-Pick disease with MRI evidence of Hippocampal sclerosis and mesial sclerosis.