John F. Holt

The radiologic features of neurofibromatosis.

Neurofibromatosis (von Recklinghausen) is a curious, often familial disease which in its severe forms is readily recognized by the association of multiple tumors of the peripheral nerves with areas of pigmentation in the skin, so-called cafe au lait spots. Other features, such as involvement of the central nervous system and the skeleton, are less frequently encountered but are of relatively greater importance to the radiologist. In order to investigate particularly the bone manifestations of this disease, we have reviewed the records and roentgenograms of 127 patients with von Recklinghausens disease seen at the University of Michigan Hospital in the thirteen-year period between 1934 and 1947. Material derived from this study forms the basis for the present report. Historical Smith in 1849 comprehensively described neurofibromatosis, but failed to recognize the nerve-sheath origin of these multiple tumors (1). In spite of frequent additional references to molluscum fibrosum in the interim, it was not un...

The Osseous Lesions of Tuberous Sclerosis

It is a generally accepted fact that there is a group of closely related congenital malformations which affect primarily ectodermal structures (skin, nervous system, etc.), but which may also present abnormalities in structures of mesodermal and, to a lesser degree, endodermal origin. Although not mutually exclusive in their manifestations, three syndromes in this group are particularly well defined and, as a result, have attracted most attention. They are (1) Recklinghausens neurofibromatosis, (2) Bournevilles tuberous sclerosis, and (3) Sturge-Weber cephalotrigeminal angiomatosis. Each syndrome has fairly characteristic roentgenologic signs, which we have been trying to delineate more clearly by a systematic study of large series of patients with fairly typical clinical findings. By far the most fruitful site of roentgenologically demonstrable lesions to date has been the osseous system. In 1948 Holt and Wright (1) published an analysis of the skeletal x-ray findings of 127 unequivocal cases of genera...

The osseous lesions of sarcoidosis.

In the fifty years which have passed since Caesar Boeck (1) first described an apparently rare dermatologic condition which he chose to call “multiple benign sarkoid of the skin,” this disease has come to be recognized as a generalized systemic disorder of interest and importance not only to dermatologists but to physicians in virtually all branches of medical practice. On occasion sarcoid lesions apparently confined to the skin are encountered, but the consistency with which deep-seated sarcoidosis occurs with or without skin alterations warrants thorough investigation of all organ-systems of patients in whom the disease is suspected. The evolution of sarcoidosis as we now recognize it has been carefully documented by many writers, notably Hunter (2) and Longcope and Pierson (3). Their accounts of Hutchinsons “Mortimers malady,” Besniers lupus pernio, Boecks multiple benign sarcoid, Heerfordts uveoparotid fever, Schaumanns lymphogranuloma benignum, Junglings osteitis tuberculosa multiplex cystica,...

The thumb in the congenital malformation syndromes.

Abstract Anomalies of the thumb which may be associated with congenital malformation syndromes include enlargement, duplication, and hypoplasia. The thumb may also be absent, have abnormal ossification centers, or be abnormal in position. The normative values of the ratio of the lengths of each bone to the others as well as to the second metacarpal are tabulated. These ratios are useful for objective evaluation of relative lengthening or shortening of the thumb bones. The radiographic appearances of the thumb in various syndromes are described and illustrated.

Congenital Atresia of the Esophagus and Tracheo-Esophageal Fistula

The relatively meager roentgenologic literature on the subject of congenital esophageal atresia has dealt almost exclusively with isolated case reports. The apparent reason why more comprehensive analyses of the subject have not appeared is that, until very recently, this interesting anomaly has been universally fatal and generally regarded as a distinct medical oddity. The condition is relatively uncommon, but through various improvements in surgical technic and postoperative care it has been brought into the realm of surgically correctable abnormalities, and greater interest is being taken in the establishment of its diagnosis. Many of the diagnostic and therapeutic problems which have arisen confront the roentgenologist directly, because it is largely by his methods that the diagnosis of esophageal atresia, the recognition of its complications, and the results of surgical management are graphically recorded. It may be stated justifiably that roentgen examination is essential in the proper management of...

Cranial manifestations of familial metaphyseal dysplasia.

Familial metaphyseal dysplasia (Pyles disease), characterized by idiopathic symmetrical metaphyseal splaying of the tubular bones, has been considered one of the rarest of the generalized osseous dysp1asias. Pyles patient, described in 1931 (1), and a sibling with identical findings described by Bakwin and Krida in 1937 (2), were generally regarded as unique in the annals of medical reporting for nearly twenty years. Recent observations, however, indicate that the disorder is not as rare as was previously supposed and that strikingly characteristic cranial manifestations may accompany the metaphyseal splaying. Our purpose in presenting this paper is to report 3 cases of combined cranial-metaphyseal dysplasia and to suggest that this disorder represents a distinct clinical and roentgenologic entity worthy of more widespread recognition than it has been accorded in the past. Among the more significant recent contributions bearing upon this disorder is that of Neuhauser, who in his 1952 Caldwell Lecture (3...

Humeral-Head and Coracoid Ossification in the Newborn

Abstract Humeral-head ossification on the chest radiograph of the newborn is more reliable than coracoid-epiphysis ossification in assessing gestational age. The humeral head is almost never present before 38 weeks of gestational age. It is seen in 15% of newborns at 38–39 weeks, 40% of infants at 40–41 weeks, and in 82% of newborns of 42 weeks or more gestational age. Humeral-head ossification is present in a high percentage of newborns with meconium aspiration and uncorrected transposition of the great vessels. These conditions are usually associated with term or advanced maturation.

Roentgenographic appearance of lumbosacral spine and pelvis in tuberous sclerosis.

Anumber of isolated case reports have described lesions of the lumbosacral spine and pelvis in tuberous sclerosis (2–7, 9–11, 13–30). This study was undertaken to evaluate more completely the roentgenographic appearance and frequency of such lesions. Material Only cases with a well documented diagnosis of tuberous sclerosis have been included. Roentgenograms of the lumbosacral spine and pelvis were available on 58 patients ranging in age from eight to sixty-six years (Fig. 1). There were 23 males and 35 females. Findings Lesions in the lumbosacral spine and pelvis were found in 23 of our 58 patients. The age, sex, and extent of such skeletal involvement in these 23 cases are summarized in Table I. The osseous abnormalities were arbitrarily graded as minimal, moderate, or marked on the basis of the number and size of lesions. All were osteoblastic or sclerotic in appearance and ranged in diameter from a few millimeters to a few centimeters. They were usually round or ovoid, although some of the larger lesi...

Macrocranium and macrencephaly in neurofibromatosis

Data were collected on 52 patients (30 males and 22 females) with neurofibromatosis. Using the volumetric method of Gordon, it was found that 44% of the patients had cranial capacities above the 95th percentile (70% were above the 50th percentile). The presence of intracranial tumors and/or hydrocephalus did not influence skull size. Four patients above the 95th percentile had normal pneumoencephalograms and cerebral angiograms, indicating that the cause of the macrocranium, in some instances at least, is macrencephaly. Volumetric measurement of the sella turcica in 27 of the 52 patients gave results which strongly suggest that idiopathic enlargement of the sella in neurofibromatosis is uncommon, if not rare. Skull films of 26 patients with tuberous sclerosis did not show an increase in cranial capacity similar to that found in neurofibromatosis.

Measurement of Thoracic Spine Length on Chest Radiographs of Newborn Infants

The relationship of thoracic spine length and birth weight was evaluated in newborn infants of 26-41 weeks gestational age, and standards of thoracic spine length were established. Thoracic spine length is an accurate index of trunk length in the: if the gestational age is known, a markedly lengthened thoracic spine suggests that the mother is diabetic, while a markedly shortened thoracic spine suggest retarded intrauterine growth.