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.
The patient is a Hispanic female diagnosed with homozygous FH at the age of 3 years old. Prior to diagnosis, she had developed multiple cutaneous xanthomas on her hands, feet, elbows, and knees (Figures , , and ). Furthermore, the patient complained of chest pain during exertion. Prior to treatment, serum cholesterol ranged between 500 mg/dL and 900 mg/dL. When the patient was 3 years old, she was started on rosuvastatin and ezetimibe. The patient's cholesterol level did not improve; serum cholesterol remained between 600 mg/dL and 700 mg/dL, and serum LDL level was 358 mg/dL. Genetic mutational analysis confirmed the diagnosis of homozygous FH and demonstrated a LDL-receptor genetic mutation with a DNA base change from adenine to guanine. The patient's only family history was a cousin who also had been diagnosed with homozygous FH and underwent OLT.\nThe patient's cardiac stress test showed no ischemic changes and echocardiogram demonstrated a normal aortic valve with only a trace amount of aortic regurgitation and mild mitral regurgitation, without aortic stenosis. Bilateral carotid artery ultrasound revealed intimal thickening and noncalcified plaques. Computed tomography angiography demonstrated moderate calcification of the aortic valve annulus; calcium-score screening of the right, left main, left anterior descending, and left circumflex coronary arteries was normal. Additionally, cardiac catheterization showed normal coronary arteries without evidence of stenosis or calcification, but also showed mild aortic supravalvular narrowing. The patient was started on LDL aphaeresis due to the exertional angina.\nDue to the severity of her symptoms and the failure of medical management, the patient was listed for and then underwent OLT at the age of 11 years old. The patient had no intraoperative or postoperative complications and was discharged home one week later. The patient's immunosuppression consisted of tacrolimus and prednisolone. The steroids were tapered post-operatively. Her serum cholesterol level and LDL level at the time of discharge were 192 mg/dL and 141 mg/dL, respectively. The patient remains free from exertional angina and her serum cholesterol and LDL levels remain in the normal range since her last followup at 6 months after OLT.