Sridhar Gibikote

Schwannoma of the fibula

We describe a schwannoma located in the mid-diaphyseal region of the fibula of a 14-year-old boy. Radiologically this was an expansile, lytic, globular and trabeculated lesion. MRI showed a narrow transition zone with a break in the cortex and adjacent tissue oedema. Differential diagnosis included schwannoma, fibrous dysplasia, giant cell tumour and aneurysmal bone cyst. The tumour was excised en bloc, with marginal resection limits, and there has been no recurrence two years after surgery. Histopathological examination confirmed the diagnosis of classic schwannoma. There were typical hypercellular Antoni A zones, less cellular Antoni B zones, and diffuse immunoreactivity to S100 protein. This is the first report of schwannoma involving a long bone in a child.

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis

BACKGROUND Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). OBJECTIVE To study the clinical and radiographic presentation of PPAC in Indian patients and to compare with described features of PPAC and Juvenile Idiopathic Arthritis (JIA) from published literature. METHODS All cases (n = 14) of PPAC seen in the Rheumatology and Clinical Genetics outpatient clinic between 2008 and 2011 with classical, clinical, and radiological features were studied. The demographic and clinical data were obtained from medical records of the outpatient visits. RESULTS Slight female preponderance (57%) and history of consanguinity in parents (43%) was observed in this group. The median age at onset was 4.5 years (range from birth to 9 years of age). Early presentation below the age of 3 years was seen in 3/14 patients (21%) in this group. The growth of all the patients fell below the 3rd percentile for the age. Historically, hip joint involvement was the most common presenting feature; however, elbow, wrist, knees, feet, spine, shoulder joints and small joints, namely proximal interphalangeal (PIP), distal interphalangeal (DIP), metacarpophalangeal (MCP), metatarsophalangeal joints (MTP), and interphalangeal joints (IP) of the feet, were also involved, either clinically or radiologically in varying proportions. Platyspondyly was noted in all. Molecular analysis of the WISP3 gene identified mutations in all the 5 individuals in whom it was done. CONCLUSION This descriptive case series of PPAC from India reports distinctly differentiating clinical, radiological, and molecular markers in contrast with classically described features of JIA, its mimic. Early presentation (age of onset below 3 years) with involvement of interphalangeal joints seen in three patients (21%) was a unique finding, with missense WISP3 gene mutations in all of them. Timely diagnosis of this entity can spare the patient from unnecessary investigations and toxic medications.

Congenital nasal pyriform aperture stenosis: A rare cause of nasal airway obstruction in a neonate

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management. We present a case of CNPAS, to highlight the importance of recognizing the classic signs of CNPAS on cross-sectional imaging.

Florid reactive periostitis of the forearm bones in a child

Florid reactive periostitis is a pronounced periosteal reaction, usually affecting the hands and feet, for which there is no obvious cause. It is rare in children and in long bones. We report an unusual case of florid reactive periostitis in a ten-year-old girl that involved both bones of the forearm. The lesion resolved over a period of one year, leaving a residual exostosis. She developed a physeal bar in the distal ulna in the region of the lesion at one-year follow-up. This was thought to be a complication of the biopsy procedure and was treated by resection and proximal ulnar lengthening.

Prolonged Neurologic Course of Familial Hemophagocytic Lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis is a very unusual cause for demyelination and the clinician would do well to be aware of the condition, especially when children present with atypical findings on magnetic resonance imaging associated with fever, pancytopenia, and hepatosplenomegaly. This is a rare autosomal recessive, multisystem inflammatory disorder characterized by widespread organ infiltration by macrophages and activated lymphocytes. It is usually diagnosed in the first 2 years of life and is rapidly fatal if untreated. Reported here is the case of a 12-year-old boy, from a poor family, with a 6-year history of visual loss and fever for 5 months, and transient hemiparesis with hepatosplenomegaly and pancytopenia. Cranial magnetic resonance imaging showed multiple areas of hyperintense signal, predominantly involving white matter. The boy also had elevated triglycerides and ferritin, with low fibrinogen level. Bone marrow aspiration revealed hemophagocytosis. He was diagnosed as having familial hemophagocytic lymphohistiocytosis and treated with the HLH 2004 protocol. A sibling also had evidence of hemophagocytosis. Remission was achieved, but his parents could not afford the cost of hematopoietic stem cell transplantation. He relapsed after 8 months and later died.

Imaging evaluation of hemophilia: musculoskeletal approach.

Imaging assessment is an important tool to evaluate clinical joint outcomes of hemophilia. Arthropathic changes have traditionally been evaluated by plain radiography and more recently by ultrasound and magnetic resonance imaging (MRI). Early arthropathic changes can be identified by modern imaging techniques such as T2 mapping MRI of cartilage even before clinical symptoms become apparent. Cross-sectional imaging modalities such as CT, ultrasonography, and MRI are useful in assessing bleeding-related musculoskeletal complications such as pseudotumors that still exist in some parts of the world. This article provides an overview of imaging of hemophilic arthropathy, and discusses the role and scope of individual imaging modalities currently in use in clinical practice, as well as of promising techniques that require further investigation in the immediate future.

US as a primary tool in the work-up of malrotation

Sir, We wish to compliment Dr. Yousefzadeh [1] for his efforts in bringing down radiation dose to pediatric patients during diagnostic work-up of suspected malrotation. However, a few issues need to be addressed before we can consider USG as the gold standard in evaluation of patients suspected of having malrotation. From a medicolegal viewpoint, the false-negative and false-positive examinations need to be ascertained. The falsenegative examinations would be patients where US did not reveal malrotation. Were these children followed up and did any of them require surgery? How long (range andmean value in days/months) was the period of follow-up? We believe that the author’s proposition of using US as an effective screening tool to exclude malrotation and thereby the risk of future midgut volvulus is an over-simplification. This is because malrotation of gut can occur in various permutations and combinations and US will work only for the garden variety malrotation, approximately 60% of which includes the nonrotation of gut and a few forms of incomplete rotations. In cases of partial rotation of duodenum (22%) and the small percentage (2%) of malrotation where duodenum is normally positioned, US will still show the third part of duodenum interposed between the superior mesenteric artery (SMA) and aorta, thus malrotation may be missed [2, 3]. In reversed rotation, the transverse colon is in between the SMA and aorta and the third part of duodenum is anterior to the SMA. On US, the transverse colon may be mistaken for duodenum as it can be difficult to differentiate between duodenum and transverse colon, resulting in malrotation being missed. False-positive diagnosis of malrotation on an upper GI contrast study can occur because of failure to identify the duodenum as a normal variant [4–6]. In this condition, the position of the third part of duodenum is higher than usual and the sonographer may miss that segment of duodenum. It is pertinent to note that the sonographic features of duodenum inversum are not described in literature. Apart from the technical difficulties, an important issue is observer experience. US is known to be operatordependent and expertise in neonatal abdominal sonography is not readily available even in developed countries. Thus the risk of false-positive examinations is likely to be much higher unless you have the sonographic experience and expertise that Dr. Yousefzadeh is lucky to have! Last, but not the least, preferences of the treating surgeon need to be taken into consideration. In a situation where even the radiologists are not comfortable with US, it is unlikely that surgeons are going to risk depending on sonographic findings. Thus, we conclude that although US may be an excellent modality for diagnosis of malrotation in expert hands, its role in less-experienced organizations should be explored using prospective studies.

Imaging in Pediatric Demyelinating and Inflammatory Diseases of the Brain- Part 1.

Imaging plays an important role in the diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of the brain and forms an integral part of the diagnostic criteria. Conventional and advanced MR imaging is the first and only reliable imaging modality. This article reviews the typical and atypical imaging features of common and some uncommon demyelinating and inflammatory diseases with emphasis on the criteria for categorization. Imaging protocols and the role of advanced imaging techniques are also covered appropriately.

Role of Computed Tomography in Pediatric Chest Conditions

CT is the preferred cross-sectional imaging modality for detailed evaluation of anatomy and pathology of the lung and tracheobronchial tree, and plays a complimentary role in the evaluation of certain chest wall, mediastinal, and cardiac abnormalities. The article provides an overview of indications and different types of CT chest, findings in common clinical conditions, and briefly touches upon the role of each team member in optimizing and thus reducing radiation dose.

Pneumorrhachis and pneumomediastinum in connective tissue disease-related interstitial lung disease: case series from a tertiary care teaching hospital in South India

Pneumomediastinum has been described as a rare complication of connective tissue diseases. Here, we report four cases of pneumomediastinum: three of which are associated with dermatomyositis and one with mixed connective tissue disease. All our patients had interstitial lung disease. The first case of dermatomyositis described below was complicated by epidural emphysema (pneumorrhachis) in addition to pneumomediastinum. Pneumorrhachis is reported in many isolated case reports and series in the setting of asthma, pneumothorax, blunt chest trauma, etc. Less than 10% of pneumomediastinum cases develop this complication and vast majority of cases resolve spontaneously. The mechanism behind this has been postulated to be the passage of air through the intervertebral foramen. Others suggest entrapment of air which dissects between paraspinal soft tissues and along the vascular and nerve sheaths into the epidural space. This is the first ever reported case of epidural emphysema in connective tissue disease to the best of our knowledge.