Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.

Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist. These entities are routinely evaluated with a detailed skeletal survey and hand radiographs form a crucial part of a complete survey. Certain conditions have characteristic imaging findings that enable a diagnosis be made on hand radiograph alone. Additionally, hand radiographs may also demonstrate findings that may be suggestive of a particular diagnosis/differential diagnoses and would warrant further assessment for proving the same. We aim to demonstrate the use of hand radiographs in diagnosis of various such entities through this review. Although they cannot replace a complete skeletal survey in the diagnosis, hand radiographs performed for other indications might alert a radiologist to the diagnosis of an unsuspected skeletal dysplasia.

Intramural Duodenal Hematoma in a Case of Hyper IgM Syndrome.

Three-year-old boy who presented with colicky abdominal pain, diarrhoea and vomiting was investigated with computed tomography which revealed a mass in the peripancreatic region. An imaging possibility of duodenal intramural hematoma was considered after reassessment with ultrasound which was subsequently confirmed by magnetic resonance imaging. The development of a spontaneous duodenal hematoma lead to further evaluation of the patient and revealed X linked hyper IgM syndrome.

Case 316: Progressive Pseudorheumatoid Dysplasia.

HISTORY: A 10-year-old North Indian boy presented with swelling of multiple joints in his hands for the past 3 years. This swelling involved the small joints of his hands and some restriction of joint movement, without any associated tenderness or morning stiffness. No other joints were symptomatically involved. Prior to visiting our hospital, he had received disease-modifying antirheumatoid drugs for suspected juvenile idiopathic arthritis, without any clinical benefit. On examination, the metacarpophalangeal and interphalangeal joints were nontender but had swelling and flexion deformities. He also had a short stature (below the third centile) for his age. Inflammatory markers, including erythrocyte sedimentation rate (7 mm per hour; normal range, 0-22 mm per hour) and C-reactive protein level (1.5 mg/L; normal level, <10 mg/L), were normal, and the rheumatoid factor test result was negative. A skeletal survey of the patient was performed.

Technical Report.

Diaphragmatic structure and function assessment can be performed using grayscale as well as M-mode ultrasound. This article discusses the application of M-mode ultrasound in the assessment of diaphragmatic dysfunction.

Transperineal Ultrasound as an Adjunctive Modality in the Evaluation of 'H or N' Type of Recto-urethral Fistula: Technical Note.

Anorectal malformations (ARMs) encompass a complex spectrum of congenital anomalies and H/N type anorectal malformations are extremely rare. In the presence of colostomy, an augmented pressure colostogram with or without retrograde or micturating cystourethrogram is the investigation of choice. Transperineal ultrasound is an imaging technique that allows a fairly accurate morphological assessment of ARMs along with dynamic evaluation of the anorectal structures and pelvic floor anatomy. Here we describe the role of transperineal ultrasound as an adjunctive modality in diagnosis of one such complex anomaly.

Case 316.

HISTORY: A 10-year-old North Indian boy presented with swelling of multiple joints in his hands for the past 3 years. This swelling involved the small joints of his hands and some restriction of joint movement, without any associated tenderness or morning stiffness. No other joints were symptomatically involved. Prior to visiting our hospital, he had received disease-modifying antirheumatoid drugs for suspected juvenile idiopathic arthritis, without any clinical benefit. On examination, the metacarpophalangeal and interphalangeal joints were nontender but had swelling and flexion deformities. He also had a short stature (below the third centile) for his age. Inflammatory markers, including erythrocyte sedimentation rate (7 mm per hour; normal range, 0-22 mm per hour) and C-reactive protein level (1.5 mg/L; normal level, <10 mg/L), were normal, and the rheumatoid factor test result was negative. A skeletal survey of the patient was performed and is shown in Figures 1-6.

Significance of Clinico-radiological Correlation in a Patient with Pulmonary Intimal Sarcoma Simulating as Pulmonary Thromboembolism.

Pulmonary intimal sarcoma (PAS) is a highly aggressive malignant mesenchymal tumor affecting the central pulmonary arteries. Similar clinical presentation and indeterminate laboratory parameters often result in misdiagnosis of this condition as pulmonary thromboembolism, which is a relatively common disease. Certain imaging features can however allow differentiation between these two diagnoses. We present one such case of PAS that was initially treated as pulmonary embolism; and briefly review the relevant imaging characteristics to avoid overlooking PAS especially in patients with an atypical clinical history for thromboembolism.

Imaging features of breast cancer subtypes on contrast enhanced ultrasound: a feasibility study.

The objective of this research was to study the contrast enhancement patterns of the different molecular subtypes of breast cancer on contrast-enhanced ultrasound (CEUS) using both qualitative and quantitative parameters. This prospective study included females with a single breast mass which was histopathologically proven carcinoma. B mode ultrasound (USG) and CEUS were performed in all patients during baseline assessment. Qualitative CEUS assessment encompassed enhancement pattern, presence of fill-in and washout. Quantitative assessment included measurement of peak enhancement, time to peak; area under the curve and mean transit time. A p-value < 0.05 was considered statistically significant for differentiating the subtypes. The included thirty masses were categorised into two subtypes-triple negative breast cancer (TNBC) (36.7%) and non-TNBC (63.3%) subtypes. With B-mode USG, a statistically significant difference was observed between the two groups with respect to their shape and margins. TNBC lesions showed an oval shape, circumscribed margins and peripheral nodular enhancement on CEUS with the absence of fill-in even in the delayed phase (p-value - 0.04). The two subtypes did not significantly differ in terms of quantitative perfusion parameters. The various subtypes of breast cancer therefore possess distinct contrast enhancement patterns. CEUS potentially allows differentiation amongst these molecular subtypes that may aid in radiology-pathology (rad-path) correlation and follow up of the patients.

Spinal Chloroma - Herald of blast crisis in a patient with chronic myeloid leukaemia: A case report.

Myeloid sarcoma or chloroma is a localised tumour characterised by extramedullary proliferation of precursor myeloid cells. Commonly occurring in association with acute myeloid leukaemia, chloroma can occasionally be seen in myeloproliferative disorders with subsequent blastic transformation. Imaging plays an important role in the diagnosis and evaluation of this entity. A case of chloroma involving the dorso-lumbar vertebral region is presented in a patient with chronic myeloid leukaemia with subsequent blastic transformation.