Larsen syndrome

Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD) with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients.

Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia

Multiple epiphyseal dysplasia (MED) is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1):57-60

Macrophage activation syndrome associated with hepatitis a virus in a child with systemic onset juvenile idiopathic arthritis: A case report

Macrophage Activation Syndrome (MAS) is a rare but a grave complication of systemic onset juvenile idiopathic arthritis (SOJIA). It occurs as a result of immune dysfunction of macrophages and T lymphocyte. A twelve-year old boy diagnosed case of SOJIA presented with high grade fever, diffuse abdominal pain, vomiting and jaundice. He had high ALT, abnormal coagulation profile and Anti HA V IgM was positive. He had also high ferritin and triglyceride level which were very much suggestive for MAS. Infection especially Epstein Barr Virus, Herpes viruses and drugs are the common triggers for the development of MAS in association with SOJIA patients. MAS associated with hepatitis A virus are very rare. Only a few case reports are available in the literature. Considering its rarity and grave prognosis we are reporting a case of hepatitis A associated Macrophages Activation Syndrome in a systemic onset juvenile idiopathic arthritis

Macrophage activation syndrome associated with hepatitis a virus in a child with systemic onset juvenile idiopathic arthritis: A case report

Macrophage Activation Syndrome (MAS) is a rare but a grave complication of systemic onset juvenile idiopathic arthritis (SOJIA). It occurs as a result of immune dysfunction of macrophages and T lymphocyte. A twelve-year old boy diagnosed case of SOJIA presented with high grade fever, diffuse abdominal pain, vomiting and jaundice. He had high ALT, abnormal coagulation profile and Anti HA V IgM was positive. He had also high ferritin and triglyceride level which were very much suggestive for MAS. Infection especially Epstein Barr Virus, Herpes viruses and drugs are the common triggers for the development of MAS in association with SOJIA patients. MAS associated with hepatitis A virus are very rare. Only a few case reports are available in the literature. Considering its rarity and grave prognosis we are reporting a case of hepatitis A associated Macrophages Activation Syndrome in a systemic onset juvenile idiopathic arthritis

The Efficacy of Subcutaneous Versus Oral Methotrexate in Patients with Juvenile Idiopathic Arthritis

Objective: To investigate the efficacy of subcutaneous versus oral methotrexate in patients with Juvenile Idiopathic Arthritis (JIA) according to ACR 30 improvement criteria. Design: Prospective control trial (Parallel design) study. Setting: This study was carried out in the department of Paediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, during the period from September 2006 to April 2008. Patients: A total of 40 patients participated in the study. They were divided in 2 equal groups (Group A and Group B) alternatively matching with age, sex, and subtypes of the disease. Methotrexate was given orally in group A patients and subcutaneously in group B patients. Results: Amomg the core set variables active arthritis had the highest percentage of improvement in both the groups and laboratory criteria (ESR) showed lowest improvement. According to ACR-30 criteria, improvement rate was higher in the subcutaneous group than oral group (85 % versus 65%). Side effects of MTX were also less in subcutaneous group than oral group. Conclusion: From this study it may be concluded that the efficacy of subcutaneous MTX is more than oral MTX in JIA patients. Key words: Subcutaneous, oral, methotrexate, juvenile idiopathic arthritis

Larsen syndrome

Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD) with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients.