Rs Solanki

Ellis–van Creveld Syndrome: A Report of Two Cases

Ellis–van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound‐down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.

Neuroimaging of Langerhans cell histiocytosis: a radiological review

The neuroimaging of Langerhans cell histiocytosis (LCH), in most of the cases, is nonspecific and can vary depending on the location, especially as shown on magnetic resonance imaging (MRI). In the absence of a clinical history of LCH, isolated central nervous system (CNS) lesion presents a diagnostic challenge. LCH should be considered in the differential diagnosis of craniofacial tumors and neurodegenerative (ND) lesions of the brain. MRI is the modality of choice for investigating the CNS-LCH. Long-term follow-up with MRI is indicated in patients with ND-LCH. This retrospective study provides a comprehensive description of the spectrum of neuroimaging findings in patients with LCH, the underlying neuropathology, and follow-up study of the disease.

Successful management of airway hemangioma with propranolol.

Airway hemangiomas can be difficult to manage and cause anxiety in both the parents and the treating physician. Propranolol, a nonselective beta‐blocker, has recently been used for treating proliferating infantile hemangiomas. We report successful management of a proliferating, large, mixed infantile hemangioma with subglottic extension in an Indian infant using oral propranolol in a dose of 2mg/kg/day without any side effects. Induction of early involution and freedom from the side effects of steroid therapy seem encouraging for using propranolol as a first line treatment modality in the management of troublesome hemangiomas.

Xanthogranulomatous cholecystitis masquerading as malignancy with liver metastasis.

A 52-year-old diabetic woman was admitted to our hospital with a history of intermittent pain in her right upper abdomen, radiating to the back for 5 years. There was no history of jaundice, anorexia or weight loss. Her physical examination was unremarkable except that a firm non-tender liver was palpable about 2 cm below the right coastal margin in midclavicular line. Routine biochemical parameters were within normal limits. Abdominal ultrasonography showed gall bladder stones with loss of interphase between gall bladder and segment V of liver showing evidence of contiguous metastasis. Contrast enhanced computed tomography (CECT) of abdomen and gall bladder showed irregular circumferential wall thickening with evidence of metastasis into segment IV and V and a separate nodule with a small hypoattenuated area in segment V of the liver (Fig. 1). It also showed few small lymph nodes in peripancreatic regions. Fine needle aspiration (FNAC) from the lesion was inconclusive with no evidence of dysplasia. As her imaging findings were strongly suggestive of malignancy, she was taken up for surgery. Gall bladder mass was densely adherent to and invading the liver bed with a single nodule about 3 cm distant from the gall bladder (Fig. 2). There were no obvious nodes in the area, however, the hepatoduodenal ligament tissues were a bit densely adherent. Assuming malignancy, extended cholecystectomy with wedge resection of about 5 cm from liver bed including the mass was done along with clearing of hepatoduodenal ligament tissue. Patient had an uneventful post-operative period. Histological examination showed acute on chronic xanthogranulomatous cholecystitis (XGC) with cholelithiasis. The liver bed showed collection of foamy histiocytes and lymphocytes forming nodules in liver, with no evidence of malignancy.

Avascular necrosis: a rare complication of steroid therapy for pemphigus.

A patient of pemphigus vulgaris presented with avascular necrosis of the femur after long-term high-dose corticosteroid therapy. Corticosteroids used on a long-term basis can cause avascular necrosis of bone and this has been seen in various diseases. This is attributable to both the disease process itself and the therapy i.e. corticosteroid usage. In dermatological practice avascular necrosis of bone has been seen more commonly with SLE and also with psoriasis using long-term steroids. Avascular necrosis in a case of pemphigus on steroid therapy is a rare finding. We report such a case of pemphigus vulgaris developing avascular necrosis of bone following corticosteroid therapy.

Myxopapillary ependymoma of the filum terminale

A 3-year-old girl presented with pain and tenderness over the midline of the buttock area after trauma to the sacrococcygeal region and antecedent history of radiating pain in her lower limbs. MRI demonstrated a 3-cm, intensely enhancing, welldefined oval extramedullary intradural filar mass, isointense to the spinal cord on T1-W images and hyperintense on T2-W images in the cauda (Figs. 1 and 2). Histology confirmed an encapsulated intradural myxopapillary ependymoma. Ependymomas account for 40–60% of primary spinal cord tumors and almost 50% occur in the cauda equina region. In

Color and duplex doppler imaging evaluation of extracranial carotid artery in patients presenting with transient ischaemic attack and stroke : a clinical and radiological correlation.

OBJECTIVES -Present study was done to evaluate carotid artery disease by color and duplex imaging in 63 patients (126 vessels) presenting with transient ischaemic attack and stroke. METHODS Vessel wall thickness and plaque characterization were done by gray scale ultrasound and site and severity of stenosis was assessed on color and duplex Doppler. Doppler finding were correlated with clinical presentation, risk factors, CT and echocardiographic findings. RESULTS-Male sex (p 40% stenosis had a cortical infarct, none of patients with >40% stenosis had a subcortical infarct. All 22 patients with sub cortical infarcts had either normal extra-cranial carotids or had <40% stenosis. . Majority of plaques (50%) in the present study were located at the bifurcation. Color Flow imaging showed a definite advantage over B-mode scanning in identification of the hypoechoic plaques and in identification of plaque ulcerations. The overall perfect agreement between Color Doppler Flow Imaging and Conventional Duplex scanning was 96.8%. In patients with complete occlusion findings of color flow imaging and spectral analysis were confirmed on power Doppler imaging. Mean IM thickness of patients with normal echocardiography was 0.9250 ( 0.2863) and IM thickness of patients with echocardiographic evidence of IHD was 1.3455 ( 0.2734). CONCLUSION-As progression of the atherosclerotic disease can be stopped by reducing the risk factors and critical (>70%) stenosis treated surgically present study highlights the importance of doppler imaging in stroke prevention through surveillance for atherosclerosis that predisposes a person to cerebral ischaemia.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

Background: Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. Objective: To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Materials and Methods: Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Results: Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Conclusion: Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases.

Multifocal intrathoracic inflammatory myofibroblastic tumour in children

Pulmonary inflammatory myofibroblastic tumour is the most common benign pulmonary tumour in childhood; however it is seldom diagnosed radiologically. We report three cases of biopsy-proven inflammatory myofibroblastic tumour that presented as large aggressive intrathoracic masses mimicking a malignant process. Two cases also had multifocal areas of origin. The possibility of inflammatory myofibroblastic tumour should be considered in a child presenting with a large aggressive pleuropulmonary mass lesion even with multifocal origin.

Filarial dance—sonographic sign of filarial infection

A 17-year-old boy presented with a 3-month history of swelling and vague pain in the scrotum. US revealed multiple anechoic cyst-like lesions in the body of left epididymis. These cysts showed tubular echogenic internal structures with peculiar twirling motion. This was recognised as the sonographic filarial dance-sign of live adult filarial worms. The boy subsequently underwent needle aspiration of the lesion, which microscopically demonstrated microfilaria of Wuchereria bancrofti. Our report includes an online video clip that will help familiarise readers with the filarial dance.