Pediatric Hemophilic Arthropathy of the Knee: Treatment With Circular External Fixator and Intra-articular Injection of Platelet-Rich Plasma.

There are limited reports about managing knee flexion contracture (KFC) due to hemophilic hemarthrosis with the Ilizarov technique and platelet-rich plasma intraarticular injection administration. This article aims to describe a case of KFC treated with a circular external fixator and intraarticular administration of platelet-rich plasma in a pediatric patient. A 12-year-old male patient suffering from hemophilia A was being monitored by our department due to knee effusions. Extensive knee flexion contracture of the left knee was seen. The Ilizarov technique was chosen for surgical management of the worsening knee flexion contracture. The duration of distraction was six weeks. Due to localized pain and functional impairment, intra-articular administration of platelet-rich plasma (PRP) was applied twice, on the first month after the circular frame removal and at a six-month follow-up, with clinical and functional improvement. Our clinical case report demonstrates that PRP intra-articular injections are likely to provide an improvement in pain and knee joint function, as well as joint hyperemia, even in the case of already established knee flexion contracture, which was managed with a circular distraction device. However, more studies regarding the Ilizarov technique and the PRP intraarticular administration are needed for a protocol to be established for the management of the hemophilic knee joint in the pediatric population.

Inferior Vena Cava agenesis presenting as deep vein thrombosis in an eight year-old girl.

Agenesis of vena cava inferior (AVCI) is a rare congenital malformation with a prevalence of 0.0005-1% in the general population. High level of suspicion is required in young patients with deep vein thrombosis (DVT), particularly bilateral. We present an 8-year-old girl with AVCI presenting as bilateral lower extremity DVT and a review of the literature in pediatric cases with AVCI and DVT.

Antiphospholipid syndrome after streptococcal toxic shock syndrome later diagnosed as Behcet's disease.

Streptococcal toxic shock syndrome is a severe complication of group A streptococci. The production of antiphospholipid antibodies has been associated with streptococcal infections and with autoimmune diseases. Furthermore, streptococcal infections could be a trigger of Behcet's disease. We report a case of a boy who presented antiphospholipid syndrome after streptococcal toxic shock syndrome later he was diagnosed with Behcet's disease.

Long-term joint outcomes in adolescents with moderate or severe haemophilia A.

INTRODUCTION: Favourable joint outcomes are expected with modern haemophilia A (HA) management. Evaluation of long-term treatment outcomes is hampered by the delay between bleeding episodes during childhood and resulting joint outcomes in adulthood. AIM: To measure the long-term joint health of adolescents with moderate and severe HA, according to severity and inhibitor status. METHODS: Pilot cross-sectional study of five European PedNet centres in moderate and severe HA patients aged 10-19 years. Structured assessment of joint status by physical examination (HJHS) and ultrasound (HEAD-US). RESULTS: In total, 141 HA patients were evaluable, 100 without inhibitors (81 severe, 19 moderate HA), and 41 severe HA with current/past inhibitors. On physical examination, 12/81 (15%) of severe HA without inhibitors, 3/19 (16%) of moderate HA, and 13/41 (32%) of severe HA patients with inhibitors exhibited joint abnormalities. Inhibitor persistence, longer inhibitor duration, and a high peak inhibitor level were associated with impaired joint health. Ultrasound showed joint damage (bone or cartilage) in 13/49 (27%) of severe HA without inhibitors, 1/12 (8%) of moderate HA, and 10/28 (36%) of severe HA patients with inhibitors. A discordant ankle evaluation by ultrasound versus physical examination was present in 53/169 joints (31%). CONCLUSIONS: Most adolescents with severe or moderate HA show favourable joint health. Future research with combined ultrasound and/or MRI is needed to better understand joint outcomes in the remaining patients. Patents with inhibitors showed a two-fold increased proportion with joint deterioration. Ultrasound paired with physical examination increases sensitivity for detection of joint damage.

Clinical application of extended half-life factor VIII in children with severe haemophilia A.

INTRODUCTION: Only few studies have presented results from real-world clinical use of Extended Half-Life (EHL) products in children with haemophilia (CWH). AIM: To retrospectively examine real-life experience with EHL factor VIII products use in CWH A, comparing with clinical experience from standard half-life products (SHL). METHODS: A retrospective review of medical records of CWH A who have been prescribed EHL factor concentrates was conducted. All before/after comparisons were performed with the Wilcoxon matched-pairs signed-ranks test. RESULTS: Twenty-three children with severe haemophilia A were enrolled in the study (3-6 years old: n = 4, 7-12 years old: n = 7 and 13-18 years old: n = 12). Median length of time that patients were treated with EHL products was 78 weeks. Median dosing interval was significantly lengthened from 2.3 to 3.5 days after switching from SHL to EHL concentrates. Mean trough FVIII levels were significantly increased from 2.3% to 4.1% after treatment with EHL products. Also, CWH A had a reduction of mean annual bleeding rate (ABR) and mean annual joint bleeding rate (AJBR) from 1 and .8 to .3 and .2, respectively, following treatment with EHL concentrates (ABR: p = .02, AJBR: p = .05). However, after switching to factor EHL, actual FVIII consumption, including bleeds, was significantly increased from 94 IU/kg/week to 118 IU/kg/week in CWH A. There was no inhibitor development. CONCLUSION: This study demonstrates the successful transition of 23 CWH A from SHL to EHL factor concentrates.

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

AIMS: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mutations. METHODS: Nine dRTA families from Cyprus and one from Greece were analyzed for mutations in ATP6V1B1 gene by DNA resequencing and PCR-RFLPs. Clinical diagnosis was performed by standard criteria. Prenatal diagnosis was performed for one Cypriot family. RESULTS: Results show that 7/9 dRTA cases in Cyprus are caused by 229+1G>T and R157C founder mutations in ATP6V1B1 gene. 229+1G>T mutation was estimated to be older than 400 years. No genotype- phenotype correlation was found with SNHL. A known (L81P) and a novel mutation (912delT) were found in the Greek family. Prenatal diagnosis was performed for one Cypriot family, after parents' demand, showing that the embryo was a heterozygous carrier. CONCLUSION: Existence of only two ATP6V1B1 mutations in the Cypriot population is a diagnostic advantage. The age of onset of SNHL varies in our patients and probably is not related to ATP6V1B1 genotypes. Effective therapy for most of the syndrome symptoms is not satisfactory for some parents who choose prenatal diagnosis to ensure their child's health.