Richard L. Wesenberg

Radiological findings in the kinky-hair syndrome.

THE KINKY-hair syndrome was described in 1962 by Menkes and his associates (5) as a new degenerative disease of the central nervous system. Features of the syndrome include a sex-linked mode of transmission, failure to thrive, mental and motor retardation, clonic seizures, peculiar, kinky hair, and profound neuropathological disease. The purpose of this paper is to present a report of radiographic findings in the kinky-hair syndrome. Incidence and Inheritance Fifteen cases of this syndrome, occurring in three families, have appeared in the literature (1, 3, 5) (including two of the present series). Only males have been affected, consistent with a sex-linked recessive type inheritance. The mother of the three patients presented herein bore 7 sons and 2 daughters by 3 husbands. Six of the sons had coarse, sparse, kinky scalp and eyebrow hair, and 5 died before the age of three years, with signs of progressive central nervous system deterioration. The last-born (CASE III) is stillliving but has severe centra...

Radiological findings in wet-lung disease.

Abstract The authors give details of 2 cases in a review of 20 newborn infants with clinical and radiographic findings of delayed resorption of normal lung fluid, i.e., wet-lung disease. Characteristic radiographic findings are observed when serial films are obtained. The disease occurs most often in infants delivered by cesarean section, in prematures, and in infants of diabetic mothers. A new finding of hypoproteinemia was consistent in this series.

Roentgenographic Findings in Fanconi's Anemia

Atriad of severe refractory hypoplastic anemia with pancytopenia, brown pigmentation of the skin, and multiple congenital anomalies was first described by Fanconi (9) in 1927. He reported three siblings who presented this triad which is now known as Fanconis syndrome or Fanconis hypoplastic anemia. The condition is rare, about 90 cases having been reported up to 1960, according to Nilsson and others (1–11, 14–17, 19–21, 23). Its distribution is world-wide; it has been reported throughout Europe and the United States as well as in Japan, Turkey, South Africa, and South America. There is no racial or geographic preponderance. The disease is somewhat more common in males than in females in a ratio of approximately 2 to 1. The purposes of this report are to present the clinical and roentgenographic findings in 14 cases, with case histories of 4 of them, to review briefly the clinical manifestations, particularly as they relate to roentgenographic findings, and to discuss the roentgenographic diagnosis of th...

Radiological Findings in Congenital and Acquired Occlusions of the Foramina of Magendie and Luschka

Hydrocephalus secondary to occlusion of the outlets of the fourth ventricle was initially described by Dandy and Blackfan in 1914 (15). In 1921 Dandy (16) described the surgical and pathological findings in the two major types of occlusion of these foramina; congenital and acquired (post-traumatic or postinfectious) and set forth the roentgenographic findings in the latter (basilar adhesive arachnoiditis). Taggart and Walker (45) have done the most extensive work on the congenital variety to date. Because of the distinctive radiographic, clinical, and pathological findings, Benda (3) in 1954 referred to the congenital type as the Dandy-Walker syndrome. Since several cases of basilar arachnoiditis and postsurgical cyst formation have been reported as examples of the Dandy-Walker syndrome (12, 19, 20, 42, 46), it is the purpose of this paper to attempt to clarify the differentiation of congenital occlusion of the foramina of the fourth ventricle (Dandy-Walker syndrome) from acquired occlusion (basilar adhes...

A Variable Aperture Fluoroscopic Unit for Reduced Patient Exposure

A real time fluoroscopic imaging system which provides capability for reduced patient exposure by as much as a factor of five has been developed. Modifications to the system include the incorporation of a variable aperture iris between the image intensifier output phosphor and television camera and the use of the video signal as the feedback element in the fluoroscopic automatic exposure rate control system. Quantitative and qualitative performance of the system is described.

Thick blood syndrome.

Twenty cases of hyperviscosity were studied prospectively to determine the presence and incidence of radiological findings and whether or not exchange transfusion had an appreciable effect on these findings. Serial chest radiographs revealed increased pulmonary vascularity, hyperaeration, and mild, bilateral alveolar infiltrates (perihilar and/or lower lobe). Ten patients were treated with partial plasma exchange transfusions which resulted in improvement of radiological findings. Hyperviscosity is more common than previously recognized. This entity may have profound significance as a potentially treatable cause of central nervous system damage in the neonate.

Radiological findings in lissencephaly (congenital agyria).

Lissencephaly is a rare congenital malformation of the central nervous system characterized by a failure in development of the cerebral sulci and gyri (agyria). The term itself means smooth brain (21). Absence of gyri is normal in the human fetus under four months of age, but the persistence of agyria after this age indicates an arrest in the brain development. Its etiology is unknown; there is no definite evidence to suggest a causative environmental agent, and no chromosomal abnormalities have been recorded or were found in the two cases to be presented. This does not rule out a genetic basis, which must be considered in view of the two cases in one family reported by Miller (15). The clinical findings in lissencephaly include microcephaly, decerebrate posture, unresponsiveness to the environment, severe motor retardation, seizures before the age of one year, failure to thrive, associated congenital anomalies, recurrent infection, and early death (7). Of special interest has been the observation of char...

Radiation exposure in radiographic examinations of the newborn.

Radiation exposure of the newborn during routine chest and abdominal radiographic examinations has been determined. The exposure has been measured at sites representing the entrance and exit chest, entrance, midline, and exit abdomen, the gonads, and the thyroid. Results of these measurements are reported as a function of kVp and in terms of mR received at the anatomical site per mR output of the generator at 24 in. (61 cm). This reporting procedure facilitates application of the results to exposure estimates under similar conditions at other institutions.

Selective bronchial catheterization and lavage in the newborn. A new therapeutic procedure for diagnostic radiology.

A simple technique for catheterization and lavage of the newborn lung is described. A mild “J”-curve catheter is positioned under fluoroscopic control. Between lavages, the infant receives oxygen. Improvement is usually seen during fluoroscopy as the bronchi are cleansed and the lungs re-expanded. This treatment is recommended for atelectasis or mucus plugs on the left side or when “blind” lavage has been unsuccessful on the right.

925 A NEW SYNDROME OF LETHAL MESOMELIC SKELETAL DYSPLASIA WITH OCULAR AND CARDIAC ABNORMALITIES

We have seen two unrelated infants with a lethal form of mesomelic dwarfism, which to our knowledge has not been previously reported. Both cases had a flat face with low set ears and micrognathia, small rib cage, short bowed limbs with a maximal shortening of the middle segments, ulnar deviation of fingers of a normal length. One infant had a cleft palate. Microcornea and retinal dysplasia were found in the infant who survived longer. Both infants had congenital heart disease and neonatal respiratory distress and died at 1 and 30 days respectively. The radiograms of both infants showed among other abnormalities a separation of the dorsal and ventral ossification centers of the vertebral bodies by vertical radiolucent bars, severe shortening and bowing of the long bones with meta-physeal flaring, normal size of metacarpal and phalangeal bones. Differential diagnosis from other forms of lethal mesomelic dysplasias tabulated on the basis of the clinical and radiologic findings will be presented.