A case of strio-pallido-dentate calcinosis associated with micromolecular myeloma

Abstract

Fahr’s disease (FD) is a neurodegenerative disease whose aetiology is unknown, characterized by neuropsychiatric and motor problems associated with symmetrical, bilateral calcification of the basal ganglia. A drop in the metabolism and cerebral flow is deemed to be responsible for the onset of psychiatric and motor problems, cognitive deficit, painful symptoms and altered state of consciousness. The term Fahr’s syndrome (FS) is used when an etiological cause responsible for calcification can be identified. Fahr’s syndrome is associated with extremely diverse clinical conditions: calcium/phosphate metabolism disorders (hypo-hyperparathyroidism, pseudo-hypoparathyroidism), systemic lupus erythematosus, encephalitis and neoplasms [1]. Here, we describe clinical and radiological findings of a case of FS associated with micromolecular myeloma and hypothesize that bone remodelling could encourage the depositing of calcium at an intracerebral level as a result of an increase in the levels of alkaline phosphatase (ALP) and alteration of calcium levels. In January 2013, an 82-year-old woman was admitted to our hospital. The patient’s medical records showed a condition of severe osteoporosis with multiple collapsed vertebrae, dysphagia and rapidly ingravescent cognitive impairment over the last 18 months. No motor problems or psychiatric disturbances were reported. An acute onset of drowsiness made it necessary to hospitalize the patient, who appeared to be in generally serious conditions (Glasgow coma score (GCS) 10/15), and prompted us to perform a brain CT. The brain CT scan was negative regarding focal densitometric alterations and localized accumulation of blood, but showed dystrophic calcification of the dentate nuclei with bilateral occipital cortical calcification at the level of the calcarine cortex, as seen in FD (Fig. 1). Blood chemistry analysis also showed: kidney failure (GFR 13 ml/min); anaemia (Hb 9.5 g/dl; n.v. 12–16 g/dl); hypercalcaemia (13.3 mg/dl; n.v. 8.40–10 mg/dl) and hyperphosphatemia (5.9 mg/dl; n.v. 2.8–4.6 mg/dl); increase of ALP (123 U/l; n.v. 35–104 U/l) and inflammatory markers (VES 69 mm/h; n.v. 0–35 mm/h; PCR 18,600 lg/l; n.v. \5,000 lg/l). Protein electrophoresis test showed hypoalbuminemia (33.8 g/l; n.v. 40.2–47.6 g/l), increase of acute phase proteins and hypogammaglobulinemia (8 % n.v. 11.1–18.8 %). Alterations of the calcium and phosphate metabolism are the most common cause of FS. In our patient, the concomitance of calcification of the basal ganglia and hypercalcaemia led us to suspect a condition of secondary FS and hyperparathyroidism, but subsequent serum assays for parathormone (PTH) (40.7 pg/ml; n.v.15–65 pg/ml) and vitamin D (31 ng/ml; n.v. [30 ng/ml) were normal in both cases. During the clinical course, the patient was less drowsy and suffered extremely painful symptoms, visual analogue scale (VAS) 10/10; worsening renal function was also noted. Even though drowsiness and painful symptoms could be attributed to cerebral calcification, was ingravescent kidney failure simply a concomitant pathological condition or was there a link among the clinical picture, calcification of basal ganglia and renal dysfunction? A 24-h urine collection showed significant proteinuria (2,777 mg/ 24 h; n.v. 40–150 mg/24). The finding of proteinuria in the N. Gueli W. Verrusio (&) V. M. Magro M. Zaccone M. Cacciafesta Department of Anesthesiological, Cardiovascular, Respiratory, Nephrological, and Geriatric Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy e-mail: walter.verrusio@uniroma1.it