Expansile bone lesions in a three-generation family.

We report on a three-generation family with "expansile" bone lesions of the distal radius and ulna, cortical thickening of the proximal long bones, and pathologic fractures. The differential diagnosis of expansile bone lesions includes isolated bone cysts and tumors, such as enchondromas and fibrous dysplasia; familial expansile osteolysis; and the genochondromatoses. Our patients have findings most similar to the genochondromatoses; however, the distribution of the lesions and the accompanying manifestations may be evidence for a unique genetic condition in this family.

Pulmonary and endocrine function before and after therapy with cromolyn sodium in asthma. Studies in steroid-dependent and nonsteroid-dependent asthmatic children and adolescents.

This study evaluated growth, chest radiographic manifestations, pulmonary function, and function of the pituitary-adrenal axis before and after therapy with cromolyn sodium in two groups of asthmatic youngsters, ie, 18 steroid-dependent patients and ten nonsteroid-dependent patients. The following three groups evolved: (1) steroid-dependent patients; (2) patients weaned from therapy with steroids; and (3) nonsteroid-dependent patients. Growth failure and cataracts were limited to the steroid-dependent group, while abnormalities of the lungs and pituitary-adrenal axis occurred in all three groups. Symptomatic benefits from therapy with cromolyn were striking for all groups. Chest x-ray films and the distribution of alveolar ventilation were more likely to reflect this clinical improvement than tests of pulmonary function and analyses of blood gas levels. Endocrine abnormalities in the steroid-dependent group were significant and were not quickly reversed by withdrawal of therapy with steroids. Even nonsteroid-dependent patients had abnormalities which may be related to having chronic asthma. Therapy with cromolyn seemed to promote some restoration of the function of the pituitary-adrenal axis, as indicated by better responsiveness to administration of metyrapone, which correlated with improved symptomatic control of asthma.

Issues in cerebrospinal fluid management. CSF Venereal Disease Research Laboratory testing.

Three policies for decreasing unnecessary cerebrospinal fluid (CSF) management Venereal Disease Research Laboratory (VDRL) tests were compared. The first policy attempted to educate physicians about the use of serologic tests for diagnosing neurosyphilis but allowed the CSF VDRL to be performed either as a screening test or as a retrospective test. The second policy required that the CSF VDRL be performed as a retrospective test without regard to the patient's serologic status. The third policy required that a patient be seropositive by either rapid plasma reagin (RPR) or fluorescent treponemal antibody absorbance (FTA-ABS) before a CSF VDRL could be performed. Before these policies were instituted, VDRL testing was performed on 18.2% of all CSF samples. The optional and required retrospective policies decreased the CSF VDRL rate to 13.0% and 8.5%, respectively, but the percentages of seropositive patients for whom these procedures were performed were only 7.3% and 12.9%. The third policy decreased the CSF VDRL test rate to 1.8% (P less than 0.001) with seropositivity improving to 90%. To assure serologic tests are obtained in the evaluation of neurosyphilis, requirement for seropositivity must be implemented with the use of retrospective CSF VDRL testing.

Issues in cerebrospinal fluid management. Acid-fast bacillus smear and culture.

Meningeal tuberculosis is an uncommon disease in the United States with an annual incidence of fewer than 200 cases. This study evaluates three approaches to improving the use of the cerebrospinal (CSF) acid-fast bacillus (AFB) smear and culture procedure: (1) education alone; (2) optional screening by which physicians can select to have the AFB analysis stopped if the initial CSF findings are unremarkable; and (3) mandatory screening before the performance of all CSF AFB analyses. With education alone, the CSF AFB culture rate decreased from 20.6% of all CSF acquisitions to 15.7% (P less than 0.001); however, the effect may have been related to a decrease in all types of AFB testing. Optional screening had no impact on the AFB testing rate. Mandatory screening significantly decreased the CSF AFB rate to 6.7% (P less than 0.001), unrelated to changes in other types of AFB testing. Laboratories that employ mandatory screening should report the screening results immediately and have a mechanism whereby physicians can bypass the screen, providing CSF AFB analysis on unremarkable fluid from high-risk patients.

Screening CT of the brain determined by CD4 count in HIV-positive patients presenting with headache.

BACKGROUND AND PURPOSE: Few studies have examined HIV-positive patients presenting with uncomplicated headache for clinical variables that might be predictive of those patients who would most benefit from CT. Because of the value of CD4 counts in predicting the relative risk of developing opportunistic infections and neoplasms, we assessed the diagnostic yield of screening CT in HIV-positive patients presenting with headache as sorted by CD4 count. METHODS: We reviewed CT scan results and CD4 counts in patients presenting with headache uncomplicated by altered mental status, meningeal signs, neurologic findings, or symptoms of subarachnoid hemorrhage. For analysis, scans were considered positive or negative and were grouped according to CD4 counts of less than 200 cells/microL, 200 to 499 cells/microL, and equal to or greater than 500 cells/microL. The results were then analyzed using the chi2 test. RESULTS: One hundred seventy-eight HIV-positive patients underwent a total of 204 unenhanced and contrast-enhanced CT examinations. One hundred twenty-eight (62.7%) of the scans were negative, and 76 (37.3%) were positive. Of the positive scans, 58 (76.3%) showed atrophy only and 18 (23.7%) showed mass lesions or white matter lesions. All cases that were positive for mass lesions or white matter lesions occurred in patients with CD4 counts less than 200 cells/microL (P = .04). CONCLUSION: A recent CD4 count provides an important predictor variable when considering performing CT in HIV-positive patients presenting with uncomplicated headache. Performing CT of the head for patients with CD4 counts equal to or greater than 200 cells/microL is of questionable value considering the low prevalence of positive CT findings. For this select group of patients, MR imaging may be more appropriate than CT. Patients with CD4 counts less than 200 cells/microL should undergo CT because of the high prevalence of positive scans.

Magnetic resonance imaging in internal carotid artery agenesis with computed tomography and angiographic correlation--case reports.

The authors present two cases of agenesis of the internal carotid artery (ICA) discovered incidentally on magnetic resonance imaging and confirmed on computed tomography, magnetic resonance angiography, and conventional angiography. They also propose a clinical algorithm for the workup of patients with suspected absence of the ICA.

Management of cerebrospinal fluid.

In traditional practice, doctors order tests and the laboratory performs them. A series of tests are requested before the results of any of the tests are known. The authors of this paper examine the interface between the clinicians and the laboratory. They produce a cost effective and clinically useful routine for handling spinal fluid. They bring to their practice an excellent example of quality assurance which is genuine, improves practice and is not "busy work." The editor heard Dr. Albright present this material and urged him to make it available to North Carolina doctors.

Neonatal tension pulmonary interstitial emphysema in bronchopulmonary dysplasia: treatment with lateral decubitus positioning.

Persistent foci of tension pulmonary interstitial emphysema (TPIE) may represent a clinically significant threat to the neonate with bronchopulmonary dysplasia. A 5-year experience with 21 cases of TPIE is reported. These patients were treated with lateral decubitus positioning (LDP). The emphysematous side was placed down approximately 70% of the time for an average of slightly over 3 days. Progress was followed by serial chest radiographs. The overall success rate of LDP was 90%. Respiratory status either improved or remained stable in all responding neonates, and no proved complications were observed. The authors recommend lateral decubitus positioning as the initial treatment of choice in managing neonatal tension pulmonary emphysema.

Prenatal diagnosis of thrombocytopenia with absent radii.

Six pregnancies at risk for thrombocytopenia and absent radii (TAR) have been studied between 16 and 20 menstrual weeks utilizing fetal radiography. Two affected and four unaffected fetuses have been correctly identified. Fetal radiography can provide reliable prenatal diagnosis in pregnancies at risk for TAR.

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature. Although craniosynostosis is either lacking or relatively mild in the members of this family, their features are otherwise strikingly similar to those of patients with the Saethre-Chotzen syndrome. We believe the findings in this family indicate that the Saethre-Chotzen syndrome comprises a broad pattern of carniofacial and other skeletal malformations in which craniosynostosis may sometimes occur.

Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.

Craniodiaphyseal dysplasia is a rare, sporadic form of craniotubular bone dysplasia, characterized by massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, leading to severe deformity. The clinical course is typically characterized by progressive encroachment of the craniofacial foramina and brain by the relentless deposition of bone. Compression of cranial nerves, the foramen magnum, and intracranial contents commonly leads to blindness, loss of hearing, and death. This report describes a unique case of craniodiaphyseal dysplasia manifesting with asymmetric craniofacial and axial hyperostosis. The tubular bones demonstrated the characteristic diaphyseal endostosis, undertubulation, and relative overgrowth on the involved side. Significant brain compression with signs and symptoms of increased intracranial pressure was managed successfully with decompressing craniectomy at age 12 years, enlarging the anterior and middle fossae. Calvarial thickness measured nearly 4 cm. Further calvarial, midfacial, and mandibular recontouring were performed 6 and 22 months later. Follow-up in our case indicates that close observation is mandatory to manage further progression of the disease.