CASE REPORTS

administration of drugs. He was not known to have injected agents intravenously. No abnormalities in neutrophil function or levels of serum complement or immunoglobulins were detected. The patient's infections appear most likely related to local factors such as the abnormal epidermal and epithelial barrier rather than to a systemic defect in phagocytic or immune mechanisms. Although frequent respiratory infections have been noted in other patients with anhidrotic ectodermal dysplasia,l"56 the occurrence of multiple cutaneous infections has not been described. Amyloidosis with nephrotic syndrome is a recognized complication of chronic inflammatory conditions including dermatoses. In a review oL 100 cases of systemic amyloidosis, eight were associated with cutaneous disorders." The dermatoses included hidradenitis suppurativa, stasis ulcers of 25 years' standing, psoriatic arthritis, recurrent basal cell carcinoma, dystrophic epidermolysis bullosa and three cases of lepromatous leprosy. The patient's family history is interesting because of the examples of partial expression in female carriers. In fact, one sister has all of the major manifestations of anhidrotic ectodermal dysplasia. The development in another sister of renal failure in association with chronic rheumatoid arthritis raises the interesting possibility of amyloidosis in another family member, although medical records could not be obtained for confirmation.

Summary A patient is described with anhidrotic ectodermal dysplasia, frequent cutaneous and respiratory infections and amyloidosis with nephrotic syndrome. The increased susceptibility to infections appeared to be related primarily to local factors since phagocytic and immune function were intact. Amyloidosis, a previously unreported complication of anhidrotic ectodermal dysplasia, probably developed as a consequence of the recurrent infections. REFERENCES 1. Reed WB, Lopez DA, Landing B: Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Derm 102:134-143, 1970 2. Darwin C: The Variations of Plants and Animals Under Domestication, 2nd Ed, Vol 2. New York, Appleton & Co., Inc., 1875, p 319 3. Kline AH, Sidbury JB Jr, Richter CP: The occurrence of ectodermal dysplasia and corneal dysplasia in one family: An inquiry into the mode of inheritance. J Pediatr 55:355-366, 1959 4. Passarge E, Fries E: X-chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. Nature New Biology 245:58-59, 1973 5. Upshaw BY, Montgomery H: Hereditary anhidrotic ectodermal dysplasia: A clinical and pathological study. Arch Derm Syph 60:1170-1183, 1949 6. Beahrs JO, Lillington GA, Rosan RC, et al: Anhidrotic ectodermal dysplasia: Prediposition to bronchial disease. Ann Intern Med 74:92-96, 1971

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7. Vanselow NA, Yamata M, Adams MS, et al: The increased prevalence of allergic disease in anhidrotic congenital ectodermal dysplasia. J Allergy 45:302-309, 1970 8. Kaplow L: Simplified myeloperoxidase stain using benzidine dihydrochloride. Blood 26:215-219, 1965 9. Gallin JI, Clark RA, Kimball RR: Granulocyte chemotaxis: An improved in vitro assay employing 5'Cr-labeled granulocytes. J Immunol 110:233-240, 1973 10. Pincus SH, Klebanoff SJ: Quantitative leukocyte iodination. N Engl J Med 284:744-750, 1971 11. Brownstein MH, Helwig EB: Systemic amyloidosis complicating dermatoses. Arch Derm 102:1-7, 1970

Refer to: Cohen IM, Vieweg WVR, Alpert JS, et al: Osteogenesis imperfecta tarda-Cardiovascular pathology. West J Med 126:228-231, Mar 1977

Osteogenesis Imperfecta Tarda Cardiovascular Pathology LCDR 1. M. COHEN, MC, USN CDR W. V. R. VIEWEG, MC, USN LCDR J. S. ALPERT, MC, USNR CDR J. A. KAUFMAN, MC, USN CAPT A. D. HAGAN, MC, USN San Diego

OSTEOGENESIS IMPERFECTA TARDA is a rare inherited disorder of connective tissue characterized by skeletal, ocular, cutaneous, otologic, dental and internal abnormalities. It is related to such conditions as Marfan's syndrome and pseudoxanthoma elasticum. In contrast to the other inherited disorders of connective tissue, valvular heart disease has rarely been documented by cardiac catheterization in patients with osteogenesis imperfecta tarda. In McKusick's review of more than 100 cases of osteogenesis imperfecta tarda, two patients were judged to have aortic regurgitation on clinical grounds.' Criscitiello and co-workers in 1965 reported the cases of three patients with aortic regurgitation.2 Cardiac catheterizations were not done although one case came to postmortem examination. Recently, five cases of valvular heart disease in patients with osteogenesis imperfecta tarda have been evaluated in the cardiac catheterization laboratory.3-5 In three patients aortic regurFrom the Cardiology Division, Department of Internal Medicine and the Clinical Investigation Center, Naval Regional Medical Center, San Diego, California (CIC Project No. 6-16-803). The opinions or assertions contained herein are those of the authors and are not to be construed as official or necessarily reflecting the views of the Medical Department of the Navy or the Naval Service at large. Submitted, revised, April 23, 1976. Reprint requests to: CDR W. V. R. Vieweg, MC, USN, Cardiology Division, Naval Regional Medical Center, San Diego, CA 92134.

CASE REPORTS

gitation was noted and in two mitral regurgitation was found to be present. The purpose of this report is to describe the cases of two patients with osteogenesis imperfecta tarda and aortic regurgitation confirmed by cardiac catheterization. Findings in these patients are compared with those in previously reported patients.

Reports of Cases CASE 1. In a 17-year-old Mexican-American man an avulsion fracture of the right tibial tuberosity occurred while he was preparing to leap from a crouched position. There was a history of four previous extremity fractures which occurred without trauma and which required surgical correction. Neither parents nor siblings had blue sclerae. However, two children of the patient's siblings (3 and 4 years of age) had blue sclerae, but no history of fractures. There was no personal or family history of heating loss and findings on an audiometric test done upon entrance to active military service had been within normal limits. A heart murmur was discovered in conjunction with this hospital admission. There was no personal or family history of heart disease, including rheumatic fever, and the patient said he had had no cardiac symptoms or chest trauma. On physical examination the patient was seen to be short and thin, with a triangular shaped head. The blood pressure was 130/60 mm of mercury and the pulse was 76 beats per minute. Blue sclerae were present. The teeth were deformed but not translucent. Bounding carotid pulsations were present. The left pectoralis major muscle was absent. A systolic ejection murmur and thrill were present over the aortic area and along the left sternal border. A grade III/VI blowing decrescendo diastolic murmur was present along the left sternal border. A third heart sound was present. Findings on a roentgenogram of the chest were normal. On an electrocardiogram prominent left ventricular voltage was shown. An echocardiogram showed no abnormalities. Findings on roentgenograms of the long bones included mild osteoporotic changes in the distal femur and proximal tibia bilaterally as well as thinning of the cortex and increased trabeculations in the distal radius bilaterally. On roentgenograms of the skull notable prominence of the occiput without basilar indentations was noted. At cardiac catheterization right and left heart

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229

CASE REPORTS

pressures were normal (Table 1), and there was no systolic gradient across the aortic valve. The ventriculogram on the left side was normal without evidence of mitral valve prolapse. The aortic valve was not calcified but 3+ aortic regurgitation was shown by aortic root cineangiography. The aortic root was not dilated and a tricuspid aortic valve was noted. CASE 2. In a 39-year-old white woman cardiac catheterization and coronary angiography were carried out because of the recent onset of chest pain consistent with the diagnosis of unstable angina pectoris. The diagnosis of osteogenesis imperfecta tarda had been established in childhood because of the occurrence of multiple (more than 30) atraumatic fractures associated with deep blue sclerae and delayed wound healing with exuberant scar formation. There was no history of hearing loss, chest trauma, rheumatic fever or infectious endocarditis. The patient's father had had a myocardial infarction at age 52. An uncle also had blue sclerae, but no unusual fractures or hearing loss. On physical examination the patient was seen to be thin and shorter than average in stature. The blood pressure was 140/90 mm of mercury and the pulse was 88 beats per minute. Blue sclerae were noted. The teeth were translucent, but not deformed. Carotid pulsations were normal. A faint Grade I/VI diastolic blow was heard at the upper left sternal border. There were no systolic murmurs, third or fourth heart sounds. On a roentgenogram of the chest several old rib fractures and a normal cardiac silhouette were seen. Results on a resting electrocardiogram were normal. Selective coronary angiography gave entirely normal findings. Left sided pressures are shown in Table 1. The ventriculogram on the left side showed no abnormalities except for prolapse of the anterior leaflet of the mitral valve. Aortic root cineangiography showed 1 + aortic regurgitation. The aortic root was not dilated and a tricuspid aortic valve was noted.

Discussion Both aortic and mitral regurgitation have been shown angiographically to be present in patients with osteogenesis imperfecta tarda.3-5 However, aortic regurgitation would seem to occur more commonly than mitral regurgitation in this entity. Table 1 compares the available angiographic and hemodynamic findings in the seven patients (in230

MARCH 1977 * 126 * 3

cluding the present cases) in whom cardiac catheterization has been carried out. Age at onset of symptoms varies considerably and there appears to be no good correlation between the severity of skeletal manifestations of osteogenesis imperfecta and the incidence or severity of cardiovascular abnormalities. Aortic regurgitation can range from mild to severe and there may or may not be associated dilatation of the aortic root. Dilatation of the mitral annulus and redundancy of the mitral valve leaflets are also occasionally seen. Aortic Valve and Root Pathology. Although osteogenesis imperfecta tarda is considered to be an inherited, generalized disorder of connective tissue, the cause of aortic regurgitation may be either dilatation of the aortic root or intrinsic aortic valvular abnormalities. A "true" aneurysm lined with continuous endothelium was noted in a leaflet of an otherwise normal mitral valve in a patient with severe aortic regurgitation.2 Aneurysm of the sinus of Valsalva (without histologic characterization) was described by Heppner3 in another patient with aortic regurgitation. The sinuses of Valsalva and aortic annuli were dilated and the aortic cusps elongated and thin in the two patients of Weisinger and co-workers.5 Cystic medial mucinous or myxoid degeneration of the aortic valve and proximal ascending aorta was noted in two patients who underwent aortic valve replacement,5 and this was presumed to be the pathological lesion in Heppner's patient3 despite a normal renal arterial biopsy. Changes consistent with cystic medial necrosis were found on postmortem examination in the aortic wall of one of Criscitiello's2 patients. Mitral Valve Pathology. Both dilatation of the mitral annulus and redundancy of the mitral valve with chordal rupture have been described at postmortem examination in patients with osteogenesis imperfecta tarda.4 Aortic and mitral valve replacement have been accomplished in patients with osteogenesis imperfecta. A bleeding diathesis and delayed wound healing with a tendency toward disruption of suture lines were anticipated. However, aortic valve replacement in the two patients reported by Weisinger was carried out successfully and without postoperative difficulty.5 Similarly, a benign course was noted in two patients in whom mitral valve replacement was done.' In each of the latter two cases, however, friable tissues were

CASE REPORTS

noted at the time of valve replacement, therefore making the procedure technically more difficult. As noted above, the severity of the bone disease and the severity of the valvular disease are not necessarily concordant. Intuitively, one might expect that in patients with osteogenesis imperfecta and many fractures, more severe cardiovascular pathologic conditions might develop than in those who have had fewer fractures. However, it is evident from Table 1 that severe aortic regurgitation can occur in patients with fewer fractures. Conversely, patients with many fractures may have only mild aortic regurgitation. Age seems to have little effect on the severity of valvular lesions. We conclude that in patients with

Refer to: Robbins AL, James CF, Nash DF, et al: Poisoning involving improperly stored parathion. West J Med 126: 231-233, Mar 1977

Poisoning Involving Improperly Stored Parathion ALBERT L. ROBBINS, BS Wenatchee, Washington CHARLES F. JAMES, MD

Chelan, Washington DAVID F. NASH, MS HAROLD E. RUARK, MS Wenatchee, Washington PESTICIDES, especially of the highly toxic organophosphate variety, are prominent among causes of poisoning in children. Many of these cases involve transfer of the pesticide from its original container into a container a child associates with food and drink; or improper storage allowing a child ready access to the pesticide.1-8 This report describes a recent case of the latter kind involving parathion and illustrates a cooperative effort beFrom the Regional Pesticide and Chemical Laboratory, Washington State Division of Health, Wenatchee, and Lake Chelan Clinic. Submitted April 5, 1976. The laboratory portion of this work was supported through a contract with the Epidemiologic Studies Program, Human Effects Monitoring Branch Technical Services Division, Office of Pesticide Programs, U.S. Environmental Protection Agency, Washington, DC 20460. Reprint requests to: Albert L. Robbins, Regional Laboratory Director, Regional Pesticide and Chemical Laboratory, Health Services Division, P.O. Box 190, Wenatchee, WA 98801.

all degrees of osteogenesis imperfecta, severe cardiovascular abnormalities can develop which affect the aortic root and valve more frequently than the mitral valve. Valve replacement is technically feasible, and the clinical results are satisfactory in such cases. REFERENCES 1. McKusick VA: Heritable Disorders of Connective Tissue, 4th Ed. St Louis, C. V. Mosby, 1972 2. Criscitiello MG, Ronan JA, Besterman EMM, et al: Cardiovascular abnormalities in osteogenesis imperfecta. Circulation 31: 255-262, 1965 3. Heppner RL, Babett HI, Branchive J, et al: Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta. Am J Cardiol 31:654, 1973 4. Wood SJ, Thomas J, Brainbridge MV: Mitral valve disease and open heart surgery in osteogenesis imperfecta tarda. Br Heart J 3:103-106, 1973 5. Weisinger B, Glassman E, Spencer PC, et al: Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. Br Heart J 37:475477, 1975

tween a physician and an analytical laboratory with pesticide and pesticide metabolite analytical

capability. Exposure history, diagnosis, treatment and excretion of metabolites are presented. Report of a Case A 4-year-old girl, sleeping with her mother, awakened at about 3 AM with some respiratory distress and a low-grade fever. The girl's mother, thinking that a recent cold with fever and vomiting had returned, gave her aspirin. The child made her way back to her own bed and the mother noticed that the little girl was wobbly on her feet. The mother heard nothing further from her during the night. At 9 AM she went to see why the child had not wakened and found her comatose, febrile and having a great deal of trouble breathing. An ambulance was called and the child was taken immediately to a local hospital. On admission the patient was comatose and unresponsive to stimulation by pinprick or pinching. Rectal temperature was 39.2°C (102.6°F), pulse was 120 and regular and respiration was 52 and labored. Muscular twitching involving the face, neck and upper extremities was noted. There was no evidence of head trauma or other physical injury. Examination of the patient's eyes showed pinpoint, equal and round pupils which were unresponsive to light or accommodation. A gross vertical nystagmus was also present. Findings on examination of the ears were normal. Copious mucousy oral secretions were noted with no evidence of intraoral trauma. Rhinorrhea was also noted. The patient's neck was supple, with THE WESTERN JOURNAL OF MEDICINE

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Osteogenesis imperfecta tarda. Cardiovascular pathology.

CASE REPORTS administration of drugs. He was not known to have injected agents intravenously. No abnormalities in neutrophil function or levels of se...
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