Retinopathy in juvenile dermatomyositis

Volume 88 Number 2

B r i e f clinical and laboratoty observations

fluid. A l t h o u g h h u m a n e m b r y o n i c lung fibroblasts were used to culture v-z virus, we see no r e a s o n o t h e r cell lines susceptible to the virus could n o t be used. Isolation o f virus from b l o o d will m a k e possible investigation o f the viremic p h a s e o f varicella as well as p r o v i d e additional criteria for the evaluation o f antiviral c h e m o therapeutic agents in v-z virus infection.

ADDENDUM Since the p r e p a r a t i o n of this m a n u s c r i p t we h a v e isolated v-z virus from b l o o d o n nine a d d i t i o n a l occasions from four other patients, using h u m a n foreskin fibroblasts rather t h a n h u m a n e m b r y o n i c lung fibroblasts as the culture system.

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REFERENCES 1. Hughes WT, Feldman S, and Cox F: Infectious diseases in children with cancer, Pediatr Clin North Am 21:583, 1974. 2. Gold E: Serologic and virus-isolation studies on patients with varicella or herpes zoster infections, N Engl J Med 174:181, 1966. 3. Lennette EH, and Schmidt N J: Diagnostic procedures for viral and rickettsial infections, ed 4, New York, 1969, American Public Health Association, Inc., p 98. 4. Lennette EH, and Schmidt NJ: Diagnostic procedures for viral and rickettsial infections, ed 4, New York, 1969, American Public Health Association, Inc., p 740. 5. Lang D, and Noren B: Cytomegaloviremia following congenital infection, J PEDIATR 73:812, 1968.

The authors gratefully acknowledge Dr. James Nakano of the Center for Disease Control, Atlanta, Georgia, for confirming the isolates of varicefia-zoster virus.

Retinopathy in juvenile dermatomyositis L. S. Fruman, C. G. Ragsdale, M.D., D. B. Sullivan, M.D., and R. E. Petty, M.D.,* A n n Arbor, Mich.

C Y T O I D B O D I E S, the microscopic foci o f e d e m a t o u s or degenerated retinal nerve fibers which form so-called cotton wool exudates, are t h o u g h t to result f r o m d a m a g e to retinal capillaries. 1 T h e y are seen in a p p r o x i m a t e l y 10% of patients with systemic lupus erythematosus, p a r t i c u larly in those with severe active disease or central n e r v o u s system involvement.'-' T h e occurrence o f such exudates in other r h e u m a t i c diseases is unusual. In the m i x e d c o n n e c tive tissue disease s y n d r o m e in which there are features o f SLE, dermatomyositis, a n d scleroderma, n o retinal changes were reported either in the original series o f 20 patients ~ or in the one r e p o r t e d childr T h e r e are few reported cases o f r e t i n o p a t h y in c h i l d h o o d d e r m a t o m y o sitis? -~1 This p a p e r reports a case a n d reviews the literature regarding the occurrence o f r e t i n o p a t h y in c h i l d r e n with dermatomyositis. From the Section of Pediatric Rheumatology, Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center. *Reprint address:R6056 Kresge II, Department of Pediatrics, Universit~ of Michigan Medical Center; Ann Arbot, Mich. 48104.

CASE REPORT A six-year-old boy was admitted to another hospital with a four-week history of progressive muscular weakness and pain. The illness had been characterized at onset by fever, sore throat, perioral "blisters," generalized muscular pain, and a transient rash over face and chest. Serum muscle enzyme values were elevated. An electromyogram revealed short duration and low amplitude motor units without fibrillations; proximal muscle groups were most severely involved. In biopsied tissue of the left quadriceps femoris, histiocytic and lymphocytic infiltrations without vasculitis were seen.

Abbreviations used ANA: antinuclear antibody ENA: extractable nuclear antigen LE: lupus erythematosus EMG: electromyogram At the time of transfer to C. S. Mott Children's Hospital one week later, the child appeared acutely ill. He was afebrile; the blood pressure was 106/72. Periorbital edema, violaceous discoloration of the eyelids, and atrophic erythematous changes over the extensor surfaces of fingers and elbows were typical of acute dermatomyositis. A fluffy exudate was seen near the superior temporal disc margin of each eye. The examination of the optic fundi was otherwise normal. There were severe generalized muscular weakness, tenderness, and brawny indurations which were most marked in axial and limb girdle muscles. The patient had dysphagia and nasal speech and could not sit or stand without assistance. There was no respiratory embarrassment. Except for this profound weakness, the neurologic examination was normal. Laboratory determinations included hemoglobin 9.1 gm/dl,

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Brief clinical and laboratory observations

The Journal of Pediatrics February 1976

Fig. 1. Cytoid body indicated by the arrow: photograph obtained two weeks after onset of therapy; the lesion had begun to resolve.

WBC 22,000/mm 3 with 74% granulocytes and 18% lymphocytes, ESR 62 mm/hr, and marked elevation of serum muscle enzyme levels (Table I). The results of a chest roentgenogram, electrocardiogram, and urinalysis were normal. Tests for antinuclear antibody, the lupus erythematosus cell test, and Coombs test were negative, and the level of serum binding of double-stranded DNA was normal. Antibody to extractable nuclear antigen was not appreciably elevated (titer 1:320). In vitro responsiveness of the patient's lymphocytes to phytohemagglutinin in autologous or AB + serum was consistently absent until four months after initiation of therapy, but has subsequently remained normal. The characteristic weakness, pain, and rash, together with marked elevation of muscle enzymes and negative tests for ANA, anti-DNA antibody, and LE cells suggested the diagnosis of juvenile dermatomyositis, in spite of the presence of cytoid bodies. Prednisone in a dose of 40 mg/day (2 mg/kg), antacids, and a program of passive range of motion exercises were begun. Within three weeks, the patient was feeling well, serum muscle enzymes returned to normal, and the retinal examination was unremarkable. The prednisone dose was reduced to 30 rag/day and reductions of 21/2mg a day have since been made at two-week intervals. Twelve months after the onset of illness, muscle strength, muscle enzymes, and funduscopic examination remain normal. DISCUSSION Retinal exudates in childhood are associated with hypertension, diabetes mellitus, SLE, and occasionally with leukemia, 1~ but rarely occur in dermatomyositis. O f 39 children with dermatomyositis followed in the Pediatric Rheumatology Section at The University of Michigan since 1960, only the patient reported here had

cytoid bodies. The negative A N A , LE prep, D N A binding, and Coombs tests make an overlap between dermatomyositis and SLE very unlikely. In addition, the low titer of antibody to E N A and the absence of sclerodermatous skin changes make the diagnosis of mixed connective tissue disease improbable?. ' This patient's clinical disease was typical of childhood dermatomyositis: the diagnosis was supported by elevated muscle enzymes, abnormalities on EMG, and muscle biopsy. The retinal changes were indistinguishable from the cotton wo01 exudates seen in SLE. Review of the literature revealed nine cases of childhood dermatomyositis associated with retinopathy. ~ 11 In all instances, the clinical descriptions are appropriate for a diagnosis of dermatomyositis, although in most cases supporting laboratory data were very limited. Two patients had definite hypertension of unknown cause. 7, " None had significant proteinuria or changes in the urinary sediment. An LE cell test was reported in only one case and was negative, although the child was hypertensive and had alopecia. All cases were originally reported prior to 1964, and tests for A N A , anti-DNA, and a n t i - E N A were not done. The retinal changes reported included fluffy and hard exudates, p!gmentation, optic atrophy, edema, and hemorrhages. In some instances the retinopathy was transient, lasting two to three weeks?. 9 whereas in others it persisted and left permanent ophthalmoscopic and visual changes? . . . . . . . The child described herein represents the tenth report of retinopathy in association with childhood

Volume 88 Number 2

Brief clinical and laboratory observations

Table I. Muscle enzyme m e a s u r e m e n t s Pre-

l

Posttreatment

treat-merit I wkl2 wk3 wkt6 wkt30 wk Creatine phosphokinase

>10,000 2,981 318

75

44

77

1,032 233 41

28

19

23

(u) Serum glutamic oxaloacetic transaminase (IU) Lactic dehydrogenase

1,998 1,028 459

199

(tu) Aldolase (U)

90

29

6

8

dermatomyositis and the first in which there is clear laboratory evidence o f absence of SLE, or m i x e d connective tissue disease syndromes. It appears, therefore, that transient retinal exudates do rarely occur in childhood dermatomyositis.

REFERENCES 1. Duke-Elder S, and Dobree JH: Diseases of the retina, in Duke-Elder S, editor: System of ophthalmology, vol. 10, St. Louis, 1967, The CV Mosby, p 508.

Shock following intravenous pyelography in patients with congenital adrenal hyperplasia Samuel H. Siiverman, M.D.,* New

York, N.Y., and William L. Nyhan, M.D., Ph.D., San Diego, Calif. THE PURPOSE of this report is to present two i n f a n t s with congenital adrenal h y p e r p l a s i a w h o d e v e l o p e d severe adverse reactions following i n t r a v e n o u s pyelography.

From the Department of Pediatrics, Beth Israel Medical Center and Mount Sinai School of Medicine of the City University of New York, and the Department of Pediatrics, University of California, San Diego and University of California Medical Center. *Reprint address: c/o Dr. Aaron R. Rausen, Director of Pediatrics, Beth Israel Medical Center, 10 Nathan D. Perlman Place, New York, N. Y. 10003.

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2. Dubois E: Lupus erythematosus, New York, 1966, McGraw-Hill Book Company, Inc, p 220. 3. Sharp GC, Irvin W, Tan EM, Gould RG, and Holman HR: Mixed connective tissue disease-an apparently distinct rheumatic disease syndrome associated with a specific antibody tO extractable nuclear antigen (ENA), Am J Med 52:148, 1972. 4. Sanders DY, Huntley CC, and Sharp GC: Mixed connective tissue disease in a child, J P~D1ATR83:642, 1973. 5. Bruce GM: Refinitis in dermatomyositis, Trans Am Ophthalmol Soc 32:282, 1938. 6. London RD, in Karelitz S: Conference at the Mount Sinai hospital of New York, Pediatrics 36:817, 1950. 7. Nutt AB: Late fundus ch~inges m a case of acute dermatomyositis, Proc R Soc Med 44:979, 1951. 8. Braun-Vallon S: Poikilo-dermatomyosite chez l'enfant, Bull Soc Ophthalmol Fr 9:945, 1959. 9. Munro S: Fundus appearances in a case of acute dermatomyositis, Br J Ophthalmol 43;548, 1959. 10. Cook CD, Rosen FS, and Banker BQ: Dermatomyositis and focal scleroderma, Pediatr Clin North Am 10:979, 1963. 11. Harrison SM, Frenkel M, Grossman BJ; and Matalon R: Retinopathy in childhood dermatomyositis, Am J Ophthalmol 76:786, 1973. 12. Schaller J: Arthritis as a presenting manifestation of malignancy in childhood, J PEDIATR 81:793, 1972.

CASE REPORTS Case 1. Patient A. G. was a female infant, born at Beth Israel Medical Center, with fused pigmented labioscrotal folds and a urogenital sinus behind a large clitoris. There were no palpable gonads. Serum concentrations of electrolytes were normal. On the fourteenth day of life an intravenous pyelogram was pertbrmed using 15 ml of Renografin 76. Within 12 hours she became lethargic, fed poorly, and lost 150 gm. The serum sodium was 118 mEq/1; potassium, 10.8 mEq/l. An electrocardiogram showed a bundle branch block. She was treated with intravenous fluids, insulin, and glucose, and with cortisone acetate, DOCA, and supplemental sodium. Following the crisis the diagnosis of adrenal hyperplasia was confirmed by assay of the 17-ketostefolds (4 rag/24 hr) and pregnanetriol (1.8 mg/24 hr) in a sample of urine obtained at five days of age. Subsequent course was uneventful. Case 2. Patient J. C., a month old white female, was admitted to the Urology Service at University Hospital because of ambiguous genitals and a karyotype with two X chromosomes. She had complete labioscrotal fusion, well-developed rugae, and a median raphe. The urethra was at the base of the 1 cm phallus. No gonads were palpable. Concentrations of electrolytes were sodium 128, potassium 5.6, and chloride 103; C0~ was 14 mEq/1; and the ,BUN was 22 mg/dl. A pediatric resident suggested the diagnosis of the adrenogenitat syndrome and infused her with sufficient sodium to raise the serum concentration to 140 mEq/1. Nevertheless, urologic investigation was initiated with an intravenous pyelogram. Within five hours the patient began to convulse. The skin was mottled, dusky and had