John A. Smith

The radiographic spectrum in neurofibromatosis

N EUROFIBROMATOSIS (von Recklinghausen disease) is a hereditary condition resulting from dysplasia of neuroectodermal and mesoderma1 tissues. Any organ or system of the body may be primarily or secondarily involved in this disease. It is estimated that the incidence of neurofibromatosis is one in 3000 births.g It is transmitted as an autosomal dominant, but 50% of cases arise as spontaneous mutants. There is no known sex or racial predominance. von Recklinghausen gave the first organized description of the disease in 1882,57 although other authors had previously described some of its manifestations. From that time forward, knowledge of the entity has been broadened by hundreds of reports and studies. The etiology is not known. There is marked variation of the histologic pattern of lesions in neurofibromatosis and considerable disagreement as to the cell or cells of origin. It is known that the serum of a high percentage of these patients contains increased nerve growth stimulating activitypg which may account for the apparent multiple cell origin. l6 Primary neuroectodermal and mesodermal dysplasia apparently are responsible for most of the manifestations of neurofibromatosis. Lesions may arise from the neuroectodermal sheath cells of Schwann and mesodermal connective tissue elements.47 The classical clinical signs include cutaneous pigmentation (cafe au lait spots), multiple soft cutaneous tumors, and palpable neurofibromas of peripheral nerves. To this can be added manifestations of dysfunction of every organ system. Some of us were taught early in our medical careers that syphilis is the great imitator of other diseases. This statement is also true of neurofibromatosis. The purpose of this paper is to describe and

Mild autosomal dominant hypophosphatasia: In utero presentation in two families

We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects. Recognition of this presentation for hypophosphatasia by family investigation and assessment of the fetal skeleton for degree of ossification and chest size using ultrasonography is important. The prognosis for this condition is considerably better than for more severe forms of hypophosphatasia and for many other disorders that cause skeletal defects with long bone bowing in utero.

Tumors of the chest wall in infants and children.

Chest wall tumors of children may arise from subcutaneous tissues, the bony thorax, or extrapleural region. Review of experience at our institution and the literature indicates that primary bony tumors are most often malignant; Ewings sarcoma is the most frequent in this category. Extrapleural tumors are rare but also usually malignant. Clinical and roentgen features of these lesions are discussed.

Intestinal Pseudo-Obstruction in Mucocutaneous Lymph-Node Syndrome

Mucocutaneous lymph-node syndrome (MCLS) is an acute exanthem with specific clinical features, sometimes complicated by involvement of internal organs. Two patients with MCLS had clinical and radiographic evidence of mechanical small-bowel obstruction, probably on the basis of focal vascular insufficiency, as anatomic obstruction was not documented in either instance. The cases indicate that intestinal involvement in patients with MCLS can simulate intestinal obstruction, and conservative management of such patients is appropriate.

The use of metrizamide (amipaque) to visualise the gastrointestinal tract in children: A preliminary report

Metrizamide (amipaque) has not been used previously as a diagnostic contrast agent in the gastrointestinal tract. Metrizamide is a water-soluble isotonic contrast material having many advantages over barium and existing hypertonic water-soluble agents. There are many clinical situations in children in which metrizamide should be the contrast agent of choice for investigating the gastrointestinal tract. Four neonates are presented in whom barium or gastrografin were absolutely contraindicated. In each case metrizamide gave excellent visualization of the gastrointestinal tract. It could be followed through be bowel giving excellent visualisation even up to 120 h after ingestion. No harmful effects were noted in the four cases studied.

Digital imaging of the newborn chest

The study reports initial experience on utilising an area plate digital imaging system to obtain portable radiographic images on newborn infants. Initial results suggest that the system is a practical alternative to conventional portable radiography with potential advantages of decreasing the number of retake films and also of decreasing radiation dose.

Magnetic resonance imaging of lymphomas in children

Magnetic resonance imaging has been used to evaluate 10 children with lymphomas and was able to identify disease in all 10 cases and monitor response to therapy in all three patients with follow-up studies. It could not distinguish between the different histological types of lymphoma. The image intensity of a diseased spleen in one case was different from that of five other normal spleens in six children with Hodgkins disease. Magnetic resonance imaging compared well with computed tomography and it was especially good at identifying blood vessels.

Neurosonographic identification of ventricular asymmetry in premature infants.

Routine head ultrasound scans have been performed on 185 consecutive infants weighing under 1500 g at birth. In 40 of these infants a significant difference in the size of the lateral ventricles was observed on one or more occasions. In 38 of these infants the left ventricle was larger than the right. The aetiology of this ventricular asymmetry is unknown. It is not believed to be due to germinal matrix or ventricular haemorrhage, hydrocephalus or the position of the infant at the time of scanning.

A Practical Method for Monitoring Diagnostic Radiation Dosage in the Newborn Nursery

Diagnostic radiation exposure in 133 consecutive newborns was studied using a TLD monitoring system. Eighty-eight per cent of dosimeters received less than 1 mSv (100 mrem) total exposure. The mean exposure per chest radiograph was 0.044 +/- 0.023 mSv (4.4 +/- 2.3 mrem). Abdominal surface exposure was 0.053 +/- 0.03 mSv (5.3 +/- 3.0 mrem) for boys and 0.044 +/- 0.021 mSv (4.4 +/- 2.1 mrem) for girls. The gonadal exposure, which was calculated from the abdominal exposure data, was 0.053 +/- 0.030 mSv (5.3 +/- 3.0 mrem) for boys and 0.026 +/- 0.012 mSv (2.6 +/- 1.2 mrem) for girls. The correction factor for beam attenuation over gonads in girls was 0.58. In general, the radiation received by these infants did not exceed the currently published protection limits.

Evaluation of pulmonary parenchymal disease by magnetic resonance imaging

Thirty-eight patients with a wide variety of different disorders of the lung have been imaged using magnetic resonance. The disorders studied include congenital abnormalities, acute and chronic inflammation, vascular disorders, primary and secondary tumours of the lung, haematomas and infarcts. Magnetic resonance imaging identified all lesions seen on chest radiographs, but it is not quite as sensitive as computed tomography is for detection of very small abnormalities. Magnetic resonance may provide information to aid in differentiation of a wide variety of disorders causing diffuse pulmonary abnormality and might also prove helpful in differentiating acute inflammation from pulmonary collapse or fibrosis. In some disorders, such as lobar emphysema, cystic adenomatoid malformation and sequestration, the findings on the magnetic resonance scan alone will permit a correct diagnosis to be made in many cases. It is believed that magnetic resonance imaging has more potential for pulmonary imaging than has previously been recognised.