Diagnostic Dilemma of Vanishing Bone Disease - A Case Report and Review of Literature.

Rationale: Vanishing bone disease (VBD) is a rare bone disorder in which progressive osteolysis may lead to complete disappearance of involved bones. The diagnosis of this disease requires a high degree of clinical suspicion. We present a case of progressive osteolysis of mandible in a patient. Patient Concerns: The patient had been without definitive diagnosis and treatment for over a year. Diagnosis: Diagnosis was made by exclusion of genetic, traumatic, inflammatory, infective, endocrine and neoplastic aetiologies and by carefully correlating clinical, imaging and histopathological findings of the patient. Treatment: Segmental resection of the advancing edge of the lesion was carried out. Outcome: The patient is disease free, with no evidence of further osteolysis, after six months of follow-up. Take-Away Lessons: This article describes the exclusion-based approach adopted to diagnose a case of VBD, aiming to standardise a workup for the diagnosis.

"Bridging the Breach": Cranioplasties Using Different Reconstruction Materials-An Institutional Experience.

Introduction: Cranioplasty is a time tested surgical procedure to restore the form and function of either congenital or acquired calvarial defects. Both autologous bone flaps and alloplastic substitutes have been surgically explored over time to achieve the pre-morbid contour and eliminate the existing and anticipated complications like the "Sinking flap Syndrome". Though autologous bone flap, if preserved, is generally considered the first choice for reconstruction, however its absence/large defect reconstruction calls for alternative options. The selection of the reconstructive material is governed by various patient factors and material-related issues. The current study is an institutional experience of calvarial reconstruction with different materials. Though the aim of the surgery is always maximum patient comfort and satisfaction, post-operative outcome may vary from case to case. Materials and Method: Patients with calvarial defects post decompressive craniectomy, referred to the Department of OMFS from the Department of Neurosurgery/Neurology at our tertiary care centre, were successfully managed for the same using autologous Bone flap, customized Titanium and PEEK patient specific implant (PSI). Post-op evaluation for aesthetics, ease of adjustment/workability, thermal conductivity and infection/exposure was done at 01 and 06 months. Results: Fifteen patients of cranial defects post decompressive craniectomy were taken up of calvarial reconstruction using autologous Bone flap (n = 5), Titanium (n = 5) and PEEK (n = 5) patient specific implant (PSI). Satisfactory restoration of cranial contour was seen in all cases immediately after surgery. One patient underwent flap necrosis in bone flap group, while thermal conductivity was reported in 2 out of 5 cases of titanium PSI. Ease of workability was relatively low in all cases of PEEK group while increased overall surgical duration was encountered in bone flap group owing to second surgical site in abdomen. Conclusion: A variety of reconstruction materials may be used for cranial contouring depending on the defect and surgeon's experience, however the results may vary from case to case thus mandating tailor-made treatment for each patient.

Successful second hematopoietic cell transplantation in severe congenital neutropenia.

Allogeneic HCT is curative for SCN; however, a standard conditioning regimen or intensity has not been established. We describe a patient with SCN associated with c.1A>G (M1V) mutation in ELANE gene resulting in refractoriness to G-CSF, who received reduced-intensity HCT and developed secondary graft failure requiring a second myeloablative HCT. This case suggests that M1V mutation confers a poor G-CSF response and HCT using the best available donor is beneficial.

Cranioplasty of Hemispherical Defects Using High Impact Methylmethacrylic Plate.

UNLABELLED: Decompressive craniectomy is the most common neurosurgical procedure performed in today's scenario, usually posttrauma or a cerebrovascular event. Cranioplasty is the repair of a cranial defect or deformation. In the last decade, there has been an increase in the number of cranioplasties performed because of an increase in the number of decompressive craniectomies. Although the main purpose of cranioplasty is to protect the brain and restore aesthetics, it has been proved beyond doubt that there is also an improvement in function and patient self-esteem.Reconstructing the skull after a decompressive craniectomy is a challenge because of the size and contour of the defect, the projection of the brain outside in many cases, and the attendant risks of infection, hematoma, seizures, and CSF leak. In the last few decades, an enormous array of biomaterials has been used for cranioplasty, but there is no consensus on the best material. Each has its own advantages and disadvantages. Polymethylmethacrylate has been used for cranioplasty since the World War II and is still the most widely used reconstructive material. MATERIALS AND METHODS: Patients requiring reconstruction of hemispherical cranial defects were taken up for the study. An impression of the defect was taken over the skin using impression compound first and then silicone impression material. The model was trimmed to size, and an acrylic plate was made from High Impact Acrylic. Under general anesthesia, the acrylic plate was fixed to the margins of the defect using titanium plates and screws. Suction drain was placed and the wound closed with Vicryl Rapid. All patients were followed up for 2 years to note any postoperative complications and change in neurological status. There were 12 male patients and 3 female patients. Age of the patients ranged between 8 and 55 years. RESULTS: All patients were happy with the aesthetic results. There were no complications in all our patients. A few patients showed dramatic improvement in their neurological status. CONCLUSION: High Impact Acrylic is an excellent restorative material for reconstructing large sized cranial defects.

Comparative evaluation of vertical body osteotomy and sagittal split osteotomy for mandibular corpus distraction.

PURPOSE: Mandibular corpus distraction is conventionally carried out by fixing miniaturized intraoral distractors to the body of the mandible after vertical osteotomy posterior to the last tooth. This procedure is not only technically difficult but also has high chances of damaging the inferior alveolar neurovascular bundle. The third molars are also required to be extracted. To overcome these problems, bilateral sagittal split ramus osteotomy was used and the distractor was fixed. The study was carried out to compare the results of the 2 osteotomies for mandibular corpus distraction. PATIENTS AND METHODS: Twenty patients with nonsyndromic mandibular hypoplasia requiring corpus distraction were divided into 2 groups of 10 each. In group 1 osteotomy was carried out by conventional vertical body osteotomy and in group 2 by bilateral sagittal split osteotomy, and distractors were fixed. All cases were evaluated for 24 months. The results were compared clinically and radiologically. RESULTS: The average amount of bone lengthening achieved was 12 mm. Two patients in group 1 had paresthesia of the left lip throughout the follow-up period. One patient in group 2 had uncontrolled flair of the proximal segment, leading to a skeletal relapse of 5 mm. There were no other complications. Improvements in facial profile and occlusion were well maintained during follow-up. CONCLUSION: Mandibular corpus distraction with bilateral sagittal split osteotomy is a better option than distraction with conventional vertical osteotomy.