X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.

The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been stillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis was confirmed in this family by identification of a mutation within the LICAM gene.

X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.

The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been stillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis was confirmed in this family by identification of mutation within the L1CAM gene.

Computed tomographic assessment of vertebral bone mineral in childhood.

Quantitative computed tomography (QCT) was used to assess trabecular bone mineral concentration in the vertebrae of 132 children, 45 with suspected disorder of bone mineralisation, 54 with thalassaemia and 37 controls. The range for bone mineral concentration in controls, expressed as equivalent K2HPO4 concentrations, was 90-190 mg cm-3. Abnormally low values were seen in all untreated children with idiopathic juvenile osteoporosis, 3/9 steroid recipients, and three patients with osteogenesis imperfecta. Abnormally high values were seen in 10/14 chronic renal failure patients. Comparison of the single and dual-energy methods showed that the single energy method, which has a lower radiation dose and is less prone to error from movement artifact, is satisfactory in most paediatric applications.

Diseases of the spinal canal in children: diagnosis with noncontrast CT scans.

The spinal cord and its coverings were assessed in 131 CT studies performed without intrathecal contrast material in 108 patients ages newborn to 20 years old. The spinal cord, including the conus medullaris, and the theca can be readily identified in most patients, except in the upper thoracic region. Correlation with other radiologic studies and surgery showed few false-positive and false-negative results. Of particular importance, in no patient was unnecessary surgery performed nor was necessary surgery not performed as a result of the method. The technique was a useful screening test, often sufficient alone, for the assessment of congenital disease (proved lesions included 20 tethered spinal cords, 11 congenital mass lesions, five split cords, and 11 hydromyelic cysts or syrinxes). There were nine confirmed intraspinal neoplasms. The technique was good for identifying epidural lesions; however, we recommend myelography and/or CT myelography for suspected intradural tumors because of the greater anatomic definition required. Noncontrast CT requires careful attention to technique, and may be successful only with the use of late-model, high-resolution CT units. Noncontrast CT is a rapid, cost-effective method of assessing suspected disease in the pediatric spinal canal, at least while access to MR is still limited.

Glomerulocystic renal disease: ultrasound appearances.

Renal and hepatic sonography were performed in 2 neonates with glomerulocystic renal disease. One neonate had ultrasound findings of normal hypoechoic medullary pyramids, enabling differentiation from infantile polycystic renal disease. Previous case reports have highlighted the similarity of renal ultrasound findings in these two conditions.