Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. We report a case of a patient treated with bisphosphonates. Bisphosphonates should be administered in OPPG patients as a first-line therapy during early childhood

Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances

Gastrointestinal disturbances are commonly reported in children with autism, complicate clinical management, and may contribute to behavioral impairment. Reports of deficiencies in disaccharidase enzymatic activity and of beneficial responses to probiotic and dietary therapies led us to survey gene expression and the mucoepithelial microbiota in intestinal biopsies from children with autism and gastrointestinal disease and children with gastrointestinal disease alone. Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes. Deficient expression of these enzymes and transporters was associated with expression of the intestinal transcription factor, CDX2. Metagenomic analysis of intestinal bacteria revealed compositional dysbiosis manifest as decreases in Bacteroidetes, increases in the ratio of Firmicutes to Bacteroidetes, and increases in Betaproteobacteria. Expression levels of disaccharidases and transporters were associated with the abundance of affected bacterial phylotypes. These results indicate a relationship between human intestinal gene expression and bacterial community structure and may provide insights into the pathophysiology of gastrointestinal disturbances in children with autism

Two sisters with generalized dystonia associated with homocystinuria

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions

Vertebral fractures assessment by morphometric X-ray absorptiometry (MXA) in children with Osteogenesis Imperfecta (OI)

Recurrent vertebral fractures are frequently seen in children with OI with resulting progressive deformity, loss of mobility and chronic bone pain. The purpose of this study was to evaluate the accuracy of MXA in comparison to visual semiquantitative (SQ) approach to identification of vertebral fractures in children with OI types I III, IV.. Subjects and methods: on 30 children (15 females) aged from 1-18 years , were acquired , on the same day, lateral images of the spine by conventional x-ray tube and by dual energy X-ray absorptiometry (DXA) using a QDR-4500 A densitometer (Hologic, Inc., Bedford, MA, U.S.A.). On spinal radiographs one pediatric radiologist performed visual SQ assessment to classify the type of vertebral fractures, as wedge, endplate, or compression, by severity of vertebral heights reduction , as mild (20-25%), moderate (25-40%) or severe (>40%). The SQ reading was performed without direct vertebral measurements and without knowledge of the morphometric results. On spinal DXA scans one skeletal radiologist performed the vertebral morphometry using a specified software to measure the vertebral bodies heights from T4 to L4. Six points were used to describe the shape of each vertebral body and from these points three vertebral heights were measured: anterior (Ha), middle (Hm), and posterior (Hp). The vertebral heights ratios identified three types of vertebral fractures: ha/hp (wedge) hm/hp (concavity) and hp/hpp (compression) if falled below the fracture threshold of 20%. Results: SQ and MXA agreed that 17 patients (58%) were fractured: 8 of them had fractures of grade 1, 5 of grade 2 and 4 of grade 3 ; SQ identified as fractured 137 (35%) of the 390 vertebrae analyzed; by MXA 23 vertebrae (5.9%) of four children were not visualized sufficiently for analysis , 131 (34%) of the 367 vertebrae analyzed were fractured. Conclusion: MXA disagree with SQ visual radiographic method particularly to identify mild deformities in the upper thoracic spine that sometimes is not sufficiently visualized on MXA images. Nevertheless this disadvantage of MXA has poor clinical relevance because of the lower prevalence of osteoporotic vertebral fractures in levels T4-T6. In fact MXA identified in this study correctly all fractured subjects. We conclude that MXA is a potentially useful, low-radiation technique in the monitoring of vertebral fractures in osteogenesis imperfecta

Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: indications, limits and pitfalls

Introduction: Patients with Osteogenesis Imperfecta (OI) Type 3 may exhibit both primitive deformities and secondary fracture malunions on a femoral level. The orthopaedic surgeon's objective is to cure the deformities in order to prevent fractures and to treat the fractures in order to prevent deformities, by using telescopic nails as the gold standard method of fixation. However, the titanium elastic nail (TEN) is indicated as a possible alternative in certain selected cases. Materials and methods: The Centre for Congenital Osteodystrophy of the Sapienza University of Rome follows 485 patients with osteogenesis imperfecta. For the purpose of this study, we selected 36 patients with OI type 3 (15 females and 21 males), aged between 2 and 10 years old, who were surgically treated for femur fractures with Titanium Elastic Nail (TEN) from January 2007 to December 2009. In 12 cases a single TEN was implanted, while 24 of the cases were treated by implanting 2 TENs with the Sliding Nail (SN) technique. A retrospective evaluation was carried out by analysing the data from the medical charts and dossiers related to pain symptoms, knee and hip Range of Motion (ROM), any possible complications that could cause implant revisions (infections, nail slide failure, nail migration, traumatic events following surgery, delayed consolidation, epiphysiodesis). Results: At the 60th post-surgical month, the revision rate was 75%, mostly due to migration, osteolysis, nail slide failure and nail fracture. The Kaplan-Meier's survival curve analysis showed a coefficient of 0.25–60 months (confidence interval −0.31 and 0.81). Discussion: The percentage of complications and the high rate of revisions recorded in our sample confirm that telescopic nail is the gold standard in the treatment of femoral fractures in patients with OI type 3. Conclusions: In patients under the age of 4, with narrow medullary canals, low life expectancy, few to nil rehabilitative prospectives or severe comorbidities, the use of TEN may be considered as a less invasive approach compared to telescopic nail surgery, however only temporarily, as it will still most probably require a surgical revision a few years down the line