The patient is a 4-year-old African American male who presented with cutaneous xanthomas on the extensor surfaces of his arms, knees, elbows, and Achilles tendon. The patient had these xanthomas since he was 1 year old. The patient was found to have serum cholesterol level greater than 1000 mg/dL and triglyceride level of 170 mg/dL. The patient was started on low-fat and low-cholesterol diet and began medication treatment with atorvastatin and ezetimibe. Despite maximal medical therapy and nutritional modifications, the patient's cholesterol levels still ranged between 500 mg/dL and 600 mg/dL. The patient's family history was remarkable in that both parents had high cholesterol levels and the father had arcus senilis corneae. Due to the patient's clinical history and symptoms and the symptoms present in his immediate family, the patient was diagnosed with homozygous FH. A cardiac evaluation with a magnetic resonance angiogram (MRA) of the heart revealed mild supravalvular aortic narrowing, distal transverse arch, and proximal descending aorta narrowing and a luminal irregularity of descending aorta. The patient remained on maximal medical therapy and dietary modifications, and after three years, he continued to develop new cutaneous xanthomas around his ankles and at the base of his fingers. His cholesterol levels persisted in the range between 500 mg/dL and 600 mg/dL, and he had no regression of his cardiac vascular lesions on MRA. Due to the failure of medical therapy to control his symptoms, the patient was listed for OLT.\nThe patient successfully underwent deceased-donor OLT. There were no intraoperative or postoperative complications. The patient's immunosuppression regimen consisted of tacrolimus, mycophenolate, and prednisone. The patient's steroids were tapered postoperatively per our transplant center protocol. Atorvastatin was also continued post-operatively. Six months after OLT, the patient's xanthomas had regressed substantially and were much softer. The patient had one postoperative complication 2 years after OLT consisting of an episode of acute rejection, which was successfully treated with steroids. MRAs of the heart were performed annually to ascertain regression of atherosclerotic changes. The MRA 3 years after OLT continued to showed supravalvular aortic narrowing and diffuse, mild narrowing of the distal aortic arch with minimal improvement in the luminal caliber but no change in wall thickness severity. Of note, there was significant improvement in the degree of aortic wall thickness compared to the initial MRA. Currently, the patient is doing well over 3 years after transplant, and his cutaneous xanthomas have completely resolved. The patient has been maintained on tacrolimus and atorvastatin. His most recent cardiac testing including stress test, echocardiogram, and electrocardiography is normal. At his last followup, his serum cholesterol level is 152 mg/dL and LDL level is 75 mg/dL.
A 37-year-old lady presented to us with subacute onset progressive ataxia, with tendency to sway toward the left, of 2 month duration. She had significant weight loss, anorexia, and recurrent fevers for 6 months. She was emaciated, had oral candidiasis, and hepatomegaly. Neurological examination revealed left gaze evoked nystagmus, incoordination involving the left extremities, and slurred speech. HIV serology done was positive with a CD4 count of 28/μL. Cerebrospinal fluid study revealed normal opening pressure, mild elevation of protein (65 mg%) with no cells and normal glucose.\nMRI of the brain multiplanar T1, T2, FLAIR, diffusion and postcontrast done on a 1.5 Tesla system (Avanto-SQ Engine, Siemens Medical Systems, Erlanger, Germany) revealed the classical HCB sign in pons. In addition, there were asymmetrical T2 hyperintense lesions involving the left middle and inferior cerebellar peducle extending into left cerebellar hemisphere with atrophy of the same structures []. The left cerebellar hemispheric hyperintensities were partially suppressible on FLAIR and not enhancing on contrast []. Magnetic resonance spectroscopy revealed reduction of N-Acetylaspartic acid peak with mild elevation of choline. Imaging features suggested a possible necrotic demyelinating process asymmetrically, involving the left cerebellar white matter and transverse pontine fibers consistent with PML.