Utility of vertebral biopsy before vertebroplasty in patients with diagnosis of vertebral compression fracture.

PURPOSE: To demonstrate the utility of a biopsy performed just before vertebroplasty in patients with diagnosis of vertebral compression fracture (VCF) and no history of neoplastic or hematologic diseases. BACKGROUND: Osteoporosis is the most frequent cause of vertebral compression fracture, with trauma and pathologic vertebral weakening being other common causes. Since secondary fractures at imaging investigation can present as simple compression fractures, it is important to identify an underlying pathology. The aim of this paper is to evaluate the frequency of unexpected positive histology in vertebral samples withdrawn from patients undergoing a vertebroplasty to evaluate if a vertebral biopsy can routinely be used in case of VCF and when a secondary cause is not suspected. METHODS: We retrospectively evaluated the results of 324 biopsies performed from February 2003 to March 2019 just before vertebroplasty in 1183 patients diagnosed with one or more vertebral compression fractures and with no history of neoplastic or hematological diseases and with no suspicious findings for secondary fractures at imaging. RESULTS: Biopsy was not diagnostic in 9/324 cases (2.8%); osteoporosis was the diagnosis in 295 cases (91%); in the remaining 20 cases (6.2%), histology was positive for an underlying pathology: 12/20 (60% of positive cases) multiple myeloma; 5/20 (25%) lymphoma/leukemia; 1/20 (5%) spondylitis; 1/20 (5%) metastasis; 1/20 (5%) hemangioma. A significantly higher incidence of positive biopsies was found in patients younger than 73 (p = 0.01) with 17 of 20 (85%) positive biopsies. No complications related to the bioptic maneuver were found, according to CIRSE guidelines on percutaneous needle biopsy. CONCLUSIONS: Vertebral biopsy is a safe procedure with no related complications. In our series, an unexpected diagnosis was found in 6% of cases with impact on patient's clinical management. Positive unexpected histology was significantly higher in younger patients. In conclusion, we believe that a biopsy is useful and should be performed on all patients with vertebral compression fractures before a vertebroplasty.

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers-Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity.

An MRI study of neurological injury before and after congenital heart surgery.

BACKGROUND: Neurological deficits are observed in patients with congenital heart disease (CHD) before and after neonatal surgery, the etiology being multifactorial. To understand the impact of preoperative events and to characterize the evaluation of neurological injury, we performed serial magnetic resonance imaging (MRI) studies of the brain in a cohort of neonates undergoing open-heart surgery. METHODS AND RESULTS: Twenty-four term neonates with CHD were studied prospectively with brain MRI: before surgery, within 2 weeks of surgery, and several months after surgery. Preoperative MRI examinations showed periventricular leukomalacia (PVL) in 4 patients (16%) and infarct in 2 subjects (8%). MR spectroscopy was performed in 19 subjects preoperatively and revealed elevated brain lactate in 53%. An early postoperative MRI (n=21) identified new PVL in 48%, new infarct in 19%, and new parenchymal hemorrhage in 33%. New lesions or worsening of preoperative lesions occurred in 67% of subjects. No patient- or procedure-related factors for the development of early postoperative lesions were identified. A late postoperative MRI (n=17) demonstrated resolution of early lesions in 8 and mild cerebral atrophy in 2. CONCLUSIONS: Mild ischemic lesions, primarily in the form of PVL, occur in a number of neonates with CHD before surgery and >50% of patients postoperatively. Resolution of these lesions is common 4 to 6 months after surgery. Longer-term follow-up is needed to determine the significance of perioperative ischemic lesions on functional outcome.