Neurocutaneous melanosis: Review of a rare non-familial neuroectodermal dysplasia with newer association of cerebellopontine angle cistern lipoma.

Neurocutaneous melanosis is a rare neuroectodermal dysplasia with a grave prognosis. It is actually a disorder of neuronal migration at the time of the embryogenesis hence classified as a neurocristopathy. The patients are initially identified by the skin manifestations of the disease in the form of melanocytic naevus which can be hairy or non-hairy. These patients may or may not present with neurological symptoms but often show CNS abnormalities especially on MRI of the brain and the spine. A lot has been described about the disease since the first case described by Rokitansky in 1861, but every time a new CNS pathology is being added to the long list of currently documented pathologies. Herein we describe a case of a 5 yr old boy with seizures and hairy melanocytic naevus over the trunk and back who was diagnosed as a case of Neurocutaneous melanosis on subsequent evaluation by CT and MRI. We also describe the new association of CP angle cistern lipoma with neurocutaneous melanosis.

Initial experiences with a new MRI scoring system for differentiating advanced femoral osteonecrosis from tubercular arthritis.

The purpose of this study was to formulate a magnetic resonance imaging-based scoring system for differentiating tuberculous arthritis from advanced osteonecrosis of the femoral head. Magnetic resonance imaging findings in 18 hips with tuberculous arthritis and 36 hips with advanced osteonecrosis of the femoral head were reviewed retrospectively. Confirmation of tuberculous arthritis was based on enzyme-linked immunosorbent assay and/or synovial biopsy. Osteonecrosis was confirmed either by histopathology or eventual radiographic evidence on follow-up. The findings were analyzed with an emphasis on the changes in femoral head marrow, joint cavity, synovium, acetabulum, and contrast enhancement patterns. A score of 2 was assigned for the presence of each of the following: T2 hyperintensity of the femoral head, synovial hypertrophy, articular cartilage erosion, unilateral involvement of the femoral head, acetabular edema/sclerosis, and enhancement of the involved head. A score of 1 was assigned for each of the following: joint effusion, edema of adjacent marrow, and enhancement of adjacent soft tissue. A cutoff value of 10 of 15 points was considered to be positive for tuberculous arthritis. Sixteen of 18 cases of tuberculous arthritis were correctly identifiable on the basis of this scoring system. The 2 remaining cases had a score of 9. No case of osteonecrosis of the femoral head scored more than 9. A score of 10 for a positive diagnosis of tuberculous arthritis had a sensitivity of 88.89% and specificity of 100%. Positive and negative predictive values were 1 and 0.94, respectively. Statistical significance for each of the parameters and the entire model was established with logistic regression analysis. This new scoring system is effective in solving the imaging dilemma pertinent to endemic regions.

Correlation between serum neuron specific enolase and functional neurological outcome in patients of acute ischemic stroke.

CONTEXT: The use of biomarkers to predict stroke prognosis is gaining particular attention nowadays. Neuron specific enolase (NSE), which is a dimeric isoenzyme of the glycolytic enzyme enolase and is found mainly in the neurons is one such biomarker. AIMS: This study was carried out on patients of acute ischemic stroke with the aims to determine the correlation between NSE levels on the day of admission with infarct volume, stroke severity, and functional neurological outcome on day 30. MATERIALS AND METHODS: Seventy five patients of acute ischemic stroke admitted in the Department of Medicine were included in the study. Levels of NSE were determined on day 1 using the human NSE ELISA kit (Alpha Diagnostic International Texas 78244, USA). Volume of infarct was measured by computed tomography (CT) scan using the preinstalled software Syngo (version A40A) of Siemen's medical solutions (Forchheim, Germany). Stroke severity at admission was assessed using Glasgow coma scale (GCS) and functional neurological outcome was assessed using modified Rankin scale (mRS) on day 30. STATISTICAL ANALYSIS USED: Statistical analysis was performed using the SPSS software for windows version 15.0 (SPSS). RESULTS: A positive correlation was found between concentration of NSE on day 1 and infarct volume determined by CT scan (r = 0.955, P < 0.001). A strong negative correlation was found between GCS at presentation and concentration of NSE on day 1 (r = -0.806, P < 0.001). There was a positive correlation between NSE levels at day 1 and functional neurological outcome assessed by mRS at day 30 (r = 0.744, P < 0.001). CONCLUSIONS: Serum levels of NSE in first few days of ischemic stroke can serve as a useful marker to predict stroke severity and early functional outcome. However, larger studies with serial estimation of NSE are needed to establish these observations more firmly.

Neonatal sacrococcygeal teratoma with acute renal failure.

Teratomas are germ cell tumours composed of multiple types of cells derived from more than a single germ cell layer. The most common site of an extragonadal teratoma is the sacrococcygeal region. We report a case of a 16-day-old female child with a large swelling in the sacrococcygeal region extending laterally into the buttocks with severely deranged renal functions. Ultrasonography and CT helped in making the diagnosis and, more importantly, to delineate the extent of the tumour and the involvement of adjacent organs and tissues: in our case, lower bilateral ureters. Imaging findings and clinical presentation led to the diagnosis of sacrococcygeal teratoma with renal failure.

Clinical examination vs. MRI: evaluation of diagnostic accuracy in detecting ACL and meniscal injuries in comparison to arthroscopy.

BACKGROUND: To compare the diagnostic accuracy of clinical examination and MRI in evaluation of meniscal and ACL injuries using arthroscopic findings as reference standard. MATERIAL/METHODS: A total of 51 patients with traumatic knee injuries were identified and prospectively followed up with clinical examination, MRI and arthroscopy. Clinical examination and MRI findings were compared with arthroscopic findings. Sensitivity, specificity, PPV, NPV and diagnostic accuracy were calculated with statistical analysis. RESULTS: Out of 24 patients with arthroscopic evidence of medial meniscal injury, clinical examination and MRI correctly identified 20 and 18 patients, respectively. Clinical examination was characterized by better sensitivity and specificity with regard to diagnosis of medial meniscal tear. On arthroscopy, lateral meniscal tear was present in 13 patients; clinical examination and MRI both identified 8 of them correctly. Similarly, out of 9 patients with arthroscopic evidence of ACL tear, clinical examination and MRI correctly identified 7 and 8 patients, respectively. There were only marginal differences in sensitivity and specificity of clinical examination and MRI in diagnosis of lateral meniscal and ACL injury. CONCLUSIONS: Careful clinical examination is much better than MRI with regard to the diagnosis of medial meniscus injury and is as reliable as MRI with regard to diagnosis of lateral meniscus injury and ACL tears. MRI should be used to rule out such injuries rather than to diagnose them.

Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma.

Bilateral persistent hyperplastic primary vitreous (PHPV) is a rare disorder of eye. It is one of the most important differential diagnoses of retinoblastoma, hence early and accurate diagnosis is important. We here report a case of an 11-month-old child which was referred to ocular OPD with complaints of bilateral leukocoria. Examination revealed greyish-white masses posterior to both lenses, raising the clinical suspicion of retinoblastoma. Ultrasonography demonstrated echogenic masses extending from the posterior surface of the lens to the optic disc with reduced axial lengths. These masses demonstrated flow on color Doppler evaluation. CT scan revealed hyperdense masses behind the lens without any evidence of intralesional calcification. Clinical features and imaging findings point towards the diagnosis of bilateral PHPV. PHPV is a developmental disorder of the globe in which the hyaloid vasculature fails to regress normally. While unilateral PHPV is common, bilateral PHPV is a rare entity. It is one of the most important conditions mimicking retinoblastoma; hence early and accurate diagnosis is required. Ophthalmological examination is still the best way to confirm the diagnosis. However, if the diagnosis remain unclear, further evaluation using ultrasonography, Color Doppler, and CT scan is useful.

Sonography of multifocal hydatidosis involving lung and liver in a female child.

Hydatid disease, caused by Echinococcus granulosus, is a zoonotic infection encountered worldwide. Though involvement of the liver and lungs is quite common, pelvic involvement is rarely reported, with the incidence being 0.2-2.2 %. Ovarian and broad ligament hydatids are rare entities and are usually seen after rupture of a hepatic hydatid cyst. These cysts are usually asymptomatic, and a high index of clinical suspicion coupled with unequivocal imaging findings is required to make an accurate and timely diagnosis. We present a case of multifocal hydatid disease in a female child involving the lungs and liver and provide an account of the quintessential radiological findings.

Primary hyperparathyroidism having multiple Brown tumors mimicking malignancy.

Primary hyperparathyroidism is a disease characterized by excessive secretion of parathormone. During the course of this disease, bone loss occurs, particularly depending on resorption of the skeletal system. One of the complications of primary hyperparathyroidism is fibrotic, cystic bony changes which is called Brown tumor. Skeletal manifestations in the form of Brown tumors are rare and according to literature occur in less than 2% of patients suffering from any form of hyperparathyroidism. Such rare and multiple benign lesions may simulate a malignant neoplasm and pose a real challenge for the clinician in its differential diagnosis. We present a case of a 23-year-old Indian woman who was evaluated for multiple lytic expansile lesions with a strong suspicion of malignancy and fibrous dysplasia but turned out to be a case of primary hyperparathyroidism.

Kirner's Deformity Misdiagnosed as Fracture: A Case Report.

Kirner`s deformity or dystelephalangy is a rare entity which presents with painless, progressive, bilateral radiovolar curving of the terminal phalanges of the little fingers. It is a clinicoradiological diagnosis. Herein, we present a case where the patient was being treated as having a fracture of the distal phalanx because of misdiagnosis of Kirner`s deformity. Given the rarity of the deformity, we believe it useful to present our case report as a contribution to the literature.

Isolated pontine tuberculoma presenting as "fou rire prodromique".

The authors present the case of a young child with "fou rire prodromique" as an initial manifestation of pontine tuberculoma. This report is the first description of fou rire prodromique as the presenting sign of CNS tuberculosis. The combination of clinical information and CT findings allowed for precise localization of the lesion and suggested tuberculoma as the possible etiology.

Atypical multifocal hydatid disease of cranial vault: simultaneous orbital and extradural meningeal involvement.

Hydatid disease is endemic in regions where livestock is raised. Liver and lungs are the most commonly affected organs by the disease. Cranial vault and orbital hydatid disease is extremely rare. Signs and symptoms along with serological investigation are often inconclusive in cranial hydatid, making radiological diagnosis extremely important. Surgical removal of the cyst is the mainstay of treatment. Postoperative medical therapy, along with regular follow-up, is the key to detect any recurrence. We report an unusual case of cranial hydatid which showed diffuse scalp infiltration along with orbital and extradural extension.

Neonatal Intracranial Ischemia and Hemorrhage : Role of Cranial Sonography and CT Scanning.

OBJECTIVE: To evaluate the role of cranial sonography and computed tomography in the diagnosis of neonatal intracranial hemorrhage and hypoxic-ischemic injury in an Indian set-up. METHODS: The study included 100 neonates who underwent cranial sonography and computed tomography (CT) in the first month of life for suspected intracranial ischemia and hemorrhage. Two observers rated the images for possible intracranial lesions and a kappa statistic for interobserver agreement was calculated. RESULTS: There was no significant difference in the kappa values of CT and ultrasonography (USG) for the diagnosis of germinal matrix hemorrhage/intraventricular hemorrhage (GMH/IVH) and periventricular leucomalacia (PVL) and both showed good interobserver agreement. USG, however detected more cases of GMH/IVH (24 cases) and PVL (19) cases than CT (22 cases and 16 cases of IVH and PVL, respectively). CT had significantly better interobserver agreement for the diagnosis of hypoxic ischemic injury (HII) in term infants and also detected more cases (33) as compared to USG (18). CT also detected 6 cases of extraaxial hemorrhages as compared to 1 detected by USG. CONCLUSION: USG is better modality for imaging preterm neonates with suspected IVH or PVL. However, USG is unreliable in the imaging of term newborns with suspected HII where CT or magnetic resonance image scan is a better modality.

Relevance of MRI in prediction of malignancy of musculoskeletal system--a prospective evaluation.

BACKGROUND: The purpose of this study is to evaluate the role of MRI in musculoskeletal tumours, especially, in prediction of malignancy & to compare whether the diagnosis made on MRI correlates with the cytological/histopathological diagnosis. METHODS: 50 consecutive patients presenting in the Outpatient and Inpatient department of the Department of Orthopaedics or Casualty of Jawaharlal Nehru Medical College and Hospital, AMU, Aligarh, India were included in this study. They were subjected to MR examination on 1.5 Tesla superconducting system (MAGNETOM Avanto, Siemens). After localizer sequences, T1W and STIR images were obtained in longitudinal planes followed by T2W and post contrast T1W images in axial planes. Additional sequences were taken when required. Various imaging characteristics of tumours were evaluated statistically and their respective sensitivity and specificity in prediction of malignancy were obtained. RESULTS: Features associated with benign diagnosis in a large percentage of cases, are size less than 8 cm, sharp margination, homogeneous T2 signal, absence of oedema, necrosis, calcification and fluid-fluid levels. Similarly, malignant tumours are commonly associated with presence of irregular margins, inhomogeneous signal intensity, oedema, necrosis, haemorrhage, fascial penetration, bone changes and neurovascular involvement. A correct histological diagnosis is reached on the basis of imaging studies alone in 65% to 75% of cases. The sensitivity for a MRI diagnosis of malignant tumour was 95% and specificity was 84%. CONCLUSION: Differentiation of malignant from benign lesions of musculoskeletal system is best made by a combination of clinical and imaging parameters rather than by any single MR characteristic. When a lesion has a non-specific MR imaging appearance, it is useful to formulate a suitably ordered differential diagnosis based on tumour prevalence, patient age, and anatomic location. A systematic approach markedly improves diagnostic results.

Posterior impingement in a pediatric population: a review and case report.

Fracture of the os trigonum is exceptionally rare, and it is even rarer in the pediatric age group. Symptomatically and radiographically, it may be confused with what is known as the os trigonum syndrome (constellation of symptoms produced by fracture of the lateral tubercle of the posterior talar process). The authors report a case of a fracture of the os trigonum, as well as its clinical features and management.