Case961-- A 44-year-old Female with Familial Mediterranean Fever, Cardiomyopathy and End Stage Renal Disease

Contributed by Shino Magaki, MD, PhD1, Robyn Parks, MD2, Harry V. Vinters1,3,4, Negar Khanlou, MD1
1Section of Neuropathology; 2Department of Pathology and Laboratory Medicine; 3Department of Neurology and
      4Brain Research Institute, Ronald Reagan University of California, Los Angeles (UCLA) Medical Center and David Geffen School of Medicine, Los Angeles, California, USA


A 44 year-old female with familial Mediterranean fever (FMF), compound heterozygote with M680I and V726A mutations in the MEFV gene, on chronic colchicine therapy, cardiomyopathy with a low ejection fraction of 15-20%, and end stage renal disease on peritoneal dialysis was admitted for shortness of breath and syncopal episodes, complicated by pulseless electrical activity cardiac arrest. She otherwise did not have any acute or chronic neurologic symptoms (e.g. headaches, focal neurologic deficits, or seizures). The patient was resuscitated but developed respiratory failure, with suspected pneumonia and/or sepsis and was placed on antibiotics and inotropic agents; she developed a non ST elevation myocardial infarct. She subsequently had two additional episodes of pulseless electrical activity after which she was placed on extra-corporeal membrane oxygenation but without neurologic recovery. Computerized tomography (CT) showed no acute intracranial hemorrhage or mass effect. Given the poor prognosis, life-saving measures were withdrawn, and she expired.


At autopsy, the unfixed brain weighed 1270 grams and showed mild cerebral edema. Coronal sections of the cerebral hemispheres showed focal blurring of the cortical-white matter junction in the right parietal lobe, middle cerebral artery/anterior cerebral artery watershed area. Histologic sections demonstrated extensive and global, acute and subacute as well as chronic, hypoxic-ischemic changes throughout the brain including numerous eosinophilic neurons in the cerebral cortex, basal ganglia, bilateral hippocampi, and cerebellum. Additionally, there was extensively hyalinized-appearing vasculature with thickened vessel walls in the choroid plexus (Fig. 1) and pituitary gland (Fig. 2). Hyalinized-appearing material was also seen between the acini of the anterior pituitary gland (Fig. 3). Examination of the central nervous system (CNS) was negative for demyelination. What is your diagnosis?


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