Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) iliac bones, femora, tibiae and left fibula.
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Biomedical subjects
Publications and source records attributed to H J Kaufmann.
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Comparative radiologic/pathologic study of 45 newborns with primary and secondary pulmonary hypoplasia is presented and 43 cases were proven at autopsy. From 9 cases with primary pulmonary hypoplasia, 7 could be identified by 3 independent observers on chest radiographs. The roentgen criteria of primary pulmonary hypoplasia are evaluated and should serve in future to diagnose this condition clinically.
The results of the first 71 magnetic resonance studies in 57 children are analysed. Indications, advantages and disadvantages of MR in this age group are described and compared with the results reported in recent literature.
Metallic foreign bodies ingested by eight patients (seven children) were removed from the upper gastrointestinal tract by means of a magnet inserted into the end of an orogastric tube. No patient required hospitalization, anesthesia, surgery, or subsequent radiography, and all patients remained asymptomatic. In no case did the foreign body uncouple from the orogastric tube-magnet arrangement during retrieval. The procedure is an alternative to endoscopic or surgical removal in some cases of metallic foreign body ingestion.
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A female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated. In addition, our patient exhibits genu recurvatum on the left side resulting from intrauterine deformation. Sonography of the head reveals normal formation of the corpus callosum. The neurological status of our baby is inconspicious, and the psychomotor development up to the age of 2 5/12 years normal. The differential diagnosis of this characteristic combination of pre- and postaxial polydactyly has to consider the acrocallosal syndrome. In sporadic cases of Greig cephalopolysyndactyly syndrome it is important to investigate and follow the neurological status of the patients and in particular to use sonography to document the intact corpus callosum. Patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded.
Ultrasound studies of 46 infants with clinically suspected hypertrophic pyloric stenosis and of a control group of 30 infants were performed. The value and the limits of ultrasound in the diagnosis of hypertrophic pyloric stenosis, and the indications for upper gastrointestinal studies are discussed. Criteria for the ultrasound diagnosis of pyloric stenosis are established.
Report of 77 cases with postpartal adrenal hemorrhage. The diagnoses were made by ultrasonography. The ultrasonographic features, the findings of plain abdominal X-ray studies, and of intravenous urography are described.
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Three brothers with a constitutional skeletal dysplasia characterized by an excessively retarded ossification, principally of the epiphyses, the pelvis, the hands and the feet, are reported. In the hands and feet the retarded ossification is combined with an abnormal modeling of the bones. All the children appeared normal at birth. At the time of examination a moderate degree of dwarfism could be predicted. There was no mental retardation. All laboratory investigations including chromosomal analyses and examination for acid mucopolysaccharides in the urine were normal. Parental consanguinity suggest an autosomal recessive inheritance. There is no resemblance of this disorder to any of the hitherto described groups of constitutional diseases of bones.
Thirteen patients who had undergone prolonged adrenocorticotropic hormone (ACTH) therapy for infantile spasms or myoclonic encephalopathy were examined with sonography. Nine patients were found to have appearances characteristic of medullary nephrocalcinosis. In each of these infants the cortical echogenicity was normal in the presence of focal areas of increased echogenicity within the renal pyramids. Five patients also showed a homogeneously increased echogenicity of the whole pancreas on sonography, and two of these showed increased density on computed tomography. Density measurements were in the range of calcific material within the papillae and pancreatic tissue. On abdominal survey radiographs, even in retrospect no calcifications could be recognized.
Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a 'new' syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this 'new' syndrome.
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Esophageal roentgenographic studies were done on 100 persons with no esophageal symptoms to determine the range of normal anatomy and motor activity. Sixty-three persons had at least one "abnormality." Fifty-eight had an hiatal hernia, 42 had rings of one sort or another, and 21 had motor disorders. The high incidence of rings which can be demonstrated by maximal distention of the lower esophagus is of special interest in view of the recent additions to knowledge of the anatomy of this area. The range of what should be considered normal roentgenographically should be widened, and the physician should interpret with caution reports of esophageal abnormalities in asymptomatic persons.