Sandeep Vijayan

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked into the spectrum of mutations causing PPD. We report on clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia. Families with at least one member showing clinical and radiologic features of PPD were recruited for the study. Symptoms, signs and radiographic findings were documented in 35 patients from 25 unrelated families. Swelling of small joints of hands and contractures are the most common presenting features. Mutation analysis was carried out by bidirectional sequencing of the WISP3 gene in all 35 patients. We summarize the clinical features of 35 patients with PPD and report on 11 different homozygous mutations and one instance of compound heterozygosity. Eight (c.233G>A, c.340T>C, c.348C>A, c.433T>C, c.682T>C, c.802T>G, c.947_951delAATTT, and c.1010G>A) are novel mutations and three (c.156C>A, c.248G>A, and c.739_740delTG) have been reported previously. One missense mutation (c.1010G>A; p.Cys337Tyr) appears to be the most common in our population being seen in 10 unrelated families. This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. We also review all the mutations reported in WISP3 till date.

A child with Erysipelothrix arthritis-beware of the little known.

Erysipelothrix rhusiopathiae is an established animal pathogen while the zoonotic infections in humans are rarely reported. Infections occur after exposure to animals or animal products that are mostly occupational in adults. Here we report in a child for the first time septic arthritis and osteomyelitis without an identifiable risk factor. A 5-year-old male child was admitted with pain in the left hip joint and inability to bear weight on the limb. Clinical examination followed by radiological and magnetic resonance imaging was suggestive of septic arthritis. Erysipelothrix rhusiopathiae grew from peroperative joint specimen. The infection was resolved following arthrotomy, joint lavage and antibiotic therapy.

Bilateral stress fractures of femoral neck in non-athletes: a report of four cases

&NA; Femoral neck stress fractures (FNSFs) are rare, constituting only 5% of all stress fractures in young adults. These fractures are usually seen in athletes, military recruits and patients with underlying metabolic diseases. The treatment of FNSFs is still controversial because of the inherent complications associated with the treatment procedure. We came across 4 cases of bilateral FNSFs in non‐athletic individuals who were manual labourers without underlying bony disorders. Two patients with FNSFs and coxa vara deformity on both sides were managed by subtrochanteric valgus osteotomy and dynamic hip screw fixation. One of the remaining two patients was treated by cannulated cancellous screw fixation on one side and subtrochanteric valgus osteotomy on the other side. The fourth patient received subtrochanteric valgus osteotomy on one side and bipolar hemiarthroplasty on the other side after failed cannulated screw fixation. All the fractures healed without any complications. No evidence of avascular necrosis or arthritis was noted in our series. Subtrochanteric valgus osteotomy restores normal neck‐shaft angle in patients suffering from FNSFs combined with coxa vara deformity. Moreover, it helps to bring the forces acting around the hip to normal biomechanical levels, leading to fracture union and better results. Replacement arthroplasty is recommended to patients who fail to achieve bony union after fixation.

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome.

List of key features Facial dysmorphism–frontal upsweep Low set ears Hypertelorism Thick arched eyebrows Ptosis Antimongoloid eye slant Epicanthic folds Convex beaked nose with columella below alae nasi Hypoplastic maxilla Microstomia Thin upper lip Protuberant lower lip Periodontitis Narrow palate Abnormally shaped teeth with talon cusp Characteristic grimace with closure of eyes Pectus excavatum Broad and radially deviated thumb with short first proximal and distal phalanges Persistent fetal finger pads Spatulate fingers Broad great toes Small undecended testes in the inguinal canal Severe mental retardation

Giant cell rich osteosarcoma of the cuneiforms

Osteosarcoma is the commonest primary malignant bone tumor in children and adolescents. Giant cell rich osteosarcoma is a rare subtype of conventional osteosarcoma. Osteosarcomas commonly involve the metaphysis and meta-diaphysis of long bones. We report a 19-year-old girl with giant cell rich osteosarcoma of the medial and intermediate cuneiform bones. Even though, giant cell rich osteosarcoma is frequently mistaken for osteoclastoma of the bone; age of onset, location of lesion, radiological features, and histological characteristics on a high power field helps to differentiate the two conditions. Appropriate and early diagnosis of this variant possibly averts severe morbidity and mortality to the patient. Nonmetastatic osteosarcomas in the foot have better prognosis and are amenable to limb salvage surgeries.

An isolated case of first metatarsal tuberculosis

An apparently healthy adolescent presented to us with multiple discharging sinuses from his right foot for the past 1 year. All serological parameters were within normal limits. X-ray picture revealed an expansile osteolytic lesion of first metatarsal. Tissue biopsy and PCR confirmed it be of tubercular etiology. The incidence of isolated occurrence of metatarsal tuberculosis is very rare and the diagnostic dilemma it brings about is briefly discussed in the following report.

Comparison of two different medial reference points for measurements of the acetabular index

Introduction: Acetabular index (AI) is a commonly used quantitative measurement of acetabular inclination in plain radiographs. Repeated measurements of this index are used to determine dysplasia in children and for decision making about surgical management. Persistent acetabular dysplasia may be an indication for performing an acetabuloplasty. AI is commonly measured between the Hilgenreiner’s line (line that connects both triradiate cartilages) and the line joining lateral most ossified margin of the acetabulum and triradiate cartilage. Two different methods for measurement of AI with two different medial reference points at the triradiate cartilage have appeared in the literature. Aim: The specific aim of the study was to investigate the difference between AI measurements with two different methods and report on intraobserver and interobserver reliability of both the methods. Materials and Methods: Ninety-eight children with developmental dysplasia of the hip (DDH) (treated and untreated), younger than 9 years, were included in the study. Anteroposterior radiographs of the pelvis having acceptable pelvic rotation and pelvic tilt were included in the study. AI was measured using two different reference points for the affected and normal sides. AI was measured twice at 1-month interval by two investigators. The difference between the two measurement techniques was compared by the paired “t” test. Pearson’s correlation coefficient was calculated to test associations between the two measurement techniques. Results: The reproducibility of measurements of both the techniques was found satisfactory [intraclass correlation (ICC)-0.90 and 0.87]. Statistically significant difference (P value < 0.001) (5.7° for affected and 5.3° for normal side) between the indices measured by two techniques was noted. This difference was noted for all age groups. Significant positive correlations between both the techniques were noted in normal as well as dysplastic hips. Conclusion: Acetabular indices measured with two different medial points gave significantly different values. All subsequent assessment should be consistently carried out by the same method.

Fracture neck of femur in Factor XIII deficiency: Was better outcome possible?

The fracture in a Factor XIII deficiency patient is being reported for the first time in the literature. We report a displaced fracture neck of femur in a 17-year-old boy with Factor XIII deficiency. Open reduction and internal fixation was done 8 days after the following the initial injury. Two units each of fresh frozen plasma and cryoprecipitate were given perioperatively to prevent excessive bleeding. No perioperative bleeding complications were encountered. At 18-months follow-up, the fracture had united with evidence of avascular necrosis. The fracture neck of femur in a child or young adult needs to be reduced and stabilized at the earliest to prevent devastating complications. Its occurrence in a patient with Factor XIII deficiency is to be managed like in a normal patient, but with extra perioperative care. Undue delay in fixation as happened in this case should be avoided for a better outcome.

Longitudinal Midline Sacral Split Fracture – A Rare Entity

Fractures involving the central canal of the sacrum are rare injuries and can be transverse or longitudinal. Transverse fractures are by far common and associated with high incidence of neurological injuries. On the contrary, longitudinal midline split fracture is an extremely rare injury with minimal or no neurological injury. They are always associated with anterior pelvic ring fracture and are vertically stable needing only fixation of the anterior pelvic injury. Plating of the anterior pelvic ring in two planes would be beneficial than single plate to prevent gradual loss of reduction.

A rare tumour of hand: Angioleiomyoma

Angioleiomyoma is a benign tumour composed of smooth muscle and vascular tissue. Because of the paucity of smooth muscles in the hand other than tunica media of the blood vessels, its occurrence is quite rare in the hand and only few cases are reported in the English literature. We present the case of a 49-year-old man with benign painless swelling on the dorsum of hand. Differential diagnosis of ganglion cyst and tendon sheath tumour were considered. However, excision biopsy revealed angioleiomyoma. At 2-year follow-up, the patient remained asymptomatic with no evidence of recurrence.