Metachondromatosis: more than just multiple osteochondromas.

INTRODUCTION: Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Lesions are typically reported to regress in adulthood. METHODS: We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. RESULTS: Long-term follow up data reveal spontaneous regression of lesions by skeletal maturity. Complications may include nerve palsy due to the mass effect of lesions, avascular necrosis of the femoral head and angular deformity of long bones. Histopathological analysis has demonstrated that lesions in metachondromatosis are a mix of osteochondromas and enchondromas; however, one case of chondrosarcoma has been reported. CONCLUSION: Lesions associated with metachondromatosis may cause a variety of complications due to mass effects; however, they are often asymptomatic, cause cosmetic concerns and, importantly, most regress spontaneously. Regular clinical review with selective imaging to monitor for such complications is appropriate, but uncomplicated lesions are unlikely to require surgical intervention.

Preoperative use of ultrasonography to localize an ingested foreign body.

We report a 9-year-old boy who had swallowed a small dressmaker's pin during an art & craft class. Confirmation of ingestion of the pin and its passage through the gut was achieved with abdominal radiography. When the pin had not passed after 8 days, and with increasing concern about the likelihood of perforation, US was used to locate its exact position to allow surgical removal. This case report illustrates the unique use of US to reveal the intraappendiceal location of an ingested foreign body, facilitating its surgical removal.

Radiographic inguinal curl may indicate paraspinal misplacement of percutaneously inserted central venous catheters: report of three cases.

BACKGROUND: Misplacement of percutaneously inserted central venous catheters (PCVCs) into the paraspinal venous plexus can result in devastating outcomes. Several cases have been reported in the literature together with an explanation of the mechanism. OBJECTIVE: To describe three premature babies with their PCVCs inserted through the left saphenous vein that ended up in the lumbar spinal dural venous plexus. RESULTS: Plain radiographs obtained to check positions showed an unusual 360 degrees curl of the PCVC in the left inguinal area. CONCLUSION: We believe that misplacement of the catheter into the paraspinal venous plexus could be diagnosed with great accuracy if such a curl is seen.

Longitudinal study of normal hip development by ultrasound.

In the management of a newborn's hips, ultrasonography has proven to be useful. The progression of measurements at different ages in normal hips has not been thoroughly investigated. The purpose of this prospective study was to assess the longitudinal development of clinically stable hips. Forty newborns (80 hips) were assessed by ultrasonography at birth and at 6 and 12 weeks of age. Femoral head coverage (FHC), alpha angles, and beta angles were measured. The results showed a significant change in values between the three points in time for all measurements (P < 0.001). The mean FHC progressed from 58.4% to 65.6% to 69.3%, the mean alpha angle from 70.2 degrees to 76.8 degrees to 80.3 degrees , and the mean beta angle from 52.1 degrees to 45.7 degrees to 42.9 degrees . In clinically stable hips, the FHC and alpha and beta angles change significantly over time; therefore, it is important to consider the child's age when interpreting ultrasound images.

Gastric duplication cyst causing gastric outlet obstruction.

We report a rare case of gastric outlet obstruction in a newborn infant caused by a gastric duplication cyst. Ultrasound provided a non-invasive and conclusive diagnostic technique, which should be used as a baseline investigation for cases of suspected gastric outlet obstruction.

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

We report a 56-year-old woman, mainly suffering from painful legs and the inability to run. Radiologically, marked sclerosis and hyperostosis of the skull bones is present resulting in macrocephaly. Most tubular bones of the limbs, as well as the clavicles, are affected by sclerosis. By mutation analysis of the TGFB1, SOST and LRP5 genes, we were able to exclude the diagnoses of Camurati-Engelmann disease, Van Buchem disease, sclerosteosis, high-bone-mass trait and endosteal hyperostosis (Worth type). We believe this patient represents one of the very few examples of adult craniodiaphyseal dysplasia with a mild form of the disease and moderate facial changes.