Volume 88 Number 6 REFERENCES 1. Fraumeni JF Jr, Geiser CF, and Manning MD: Wilms' tumor and congenital hemihypertrophy: Report of five new cases and review of literature, Pediatrics 40:886, 1967. 2. Fraumeni JF Jr, and Miller RW: Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders, J PEDIATR 70:129, 1967. 3. Fraumeni JF Jr, Miller RW, and Hill JA: Primary carcinoma of the liver in childhood: An epidemiologic study, J Natl Cancer Inst 40:1087, 1968. 4. Miller, RW: Relation between cancer and congenital defects: An epidemiologic evaluation, J Natl Cancer Inst 40:1079, 1968. 5. Geiser CF, Baez A, Schindler AM, and Shih VE: Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: Presentation of a case, Pediatrics 46:66, 1970. 6. Baggenstoss AH, and Wollaeger EE: Portal hypertension due to chronic occlusion of the extrahepatic portion of the portai vein: Its relation to ascites, Am J Med 21:16, 1956. 7. Prevot J, Collignon P, and Boileau F: Portal hypertension in childhood. A study of 24 cases, Prog Pediatr Surg 1:151,
1970. 8. Ringrose RE, Jabbour JT, and Keele DK: Hemihypertrophy, Pediatrics 36:434, 1965. 9. Levy M, MacKinnon KJ, and Dossetor JB: Hemihypertrophy and medullary sponge kidney, Can Med Assoc J 96:1322, 1967. 10. Fraumeni JF Jr: Hemihypertrophy, in Bergsma D, editor: Birth defects: Atlas and compendium, Baltimore, 1973, Williams & Wilkins Company, p 466.
Hyperreninemic hypertension in an infant secondary to pelviureteric obstruction treated successfully by surgery Joseph A. Carella, M.D., F.A.A.P., and I. Silber, M.D., Irvine, Calif.
INCREASED ATTENTION has b e e n focused o n the etiology a n d t r e a t m e n t of hypertension in infants a n d children in recent pediatric literature. 1-:~ T h e p u r p o s e o f this report is to present a 3=nionth-old male i n f a n t with *Reprint address: 1201 W. LaVeta, No. 403, Orange, Calif. 92668.
B r i e f clinical and laboratory observations
987
11. Edmondson HA: Focal nodular hyperplasia, in Tumors of the liver and intrahepatic bile ducts, sect. VII-Fascicle 25, Washington, D.C., 1958, Armed Forces Institute of Pathology, pp 11-12 and 193-195. 12. Schmelling JW: Een bijzonder geval van aangeboren, multiple gezwellen in de lever (hamartomen) bij een kind van vier maanden, Ned Tijdschr Geneeskd 3:3566, 1934. 13. Tate RC, Chacko MV, Singh S, and Ogden L: Parenchymal hamartoma of the liver in infants and children, Am J Surg 123:346, 1972. 14. Edmondson HA: Differential diagnosis of tumors and tumorqike lesions of liver in infancy and childhood, Am J Dis Child 91:168, 1956. 15. Benz EJ, and Baggenst0ss AH: Focal cirrhosis of the liver: Its relation to the so-called hamartoma (adenoma, benign hepatoma), Cancer 6:743, 1953. 16. Whelan TJ Jr, Baugh JH, and Chandor S: Focal nodular hyperplasia of the liver, Ann Surg 177:150, 1973. 17. Everson RB, and Fraumcni JF J r : Familial glioblastoma with hepatic focal nodular hyperplasia, Cancer (in press). 18. Gerding WJ, Popp MF, and Martineau PC: Hamartomatous cholangiohepatoma. Report of a case, JAMA 145:821, 1951. 19. Mays ET, Christopherson WM, and Barrows GH: Focal nodular hyperplasia of the liver. Possible relationship to oral contraceptives, Am J Clin Pathol 61:735, 1974. 20. Christopherson WM, and Collier HS: Prlmary benign livercell tumors in infancy and childhood, Cancer 6:853, 1953. 21. Phillips MJ, Langer BI Stone R, Fisher MM, and Ritchie S: Benign liver cell tumors. Classification and ultrastructural pathology, Cancer 32:463, 1973.
h y p e r r e n i n e m i c h y p e r t e n s i o n secondary to pelviureteric obstruction, treated successfully by a pyeloplasty.
CASE REPORT Patient M. G., an 11 pound, 10 ounce Caucasian male, was first seen at age three months for evaluation of anorexia and increased irritability. The infant was the product of a term gestation, complicated by hyperemesis gravidarum "and mild toxemia. Family history included multiple members with hypertension, coronary artery disease, and hypercholesterolemia. Pertinent findings upon physical examination included a blood pressure of 140/100 mm Hg in the upper extremities and 170/130 mm Hg in the lower extremities, a negative funduscopic examination, normal cardiovascular system and peripheral arterial pulses, and no evidence of abdominal bruits or masses. Laboratory data included a normal complete blood count and normal concentrations of serum electrolytes, blood urea nitrogen, and creatinine. A plasma renin level was obtained in a supine position while the patient was receiving a diet of normal sodium content; when the patient had no clinical evidence of volume depletion, the level was 17.5 ng/ml/hr, hnmunoassayable plasma renin activity was measured by the New England nuclear,kit 11~:' enzymatic and radioimmune assay with normal adult supine values of 0.5-1.6 ng/ml/hr. Kotchen and associates4 reported
988
Brief clinical and laboratory observations
The Journal of Pediatrics June 1976
mean values ofimmunoassayable plasma-renin activity in infants at six weeks of age of 2.3 _+ 0.6 ng/ml/hr. These values were higher than in adult control subjects but lower ihan in values of plasma-renin activity in the first postnatal week which averaged 11.6 _-2-2.7 ng/ml/hr. Urinalysis and urine culture were negative, and values for 24-hour urinary excretion of catecholamines and vanillylmandelic acid were within normal range. Results of an electrocardiogram and chest roentgenogram were within normal limits. A rapid sequence intravenous pyelogram revealed delayed function and marked hydronephrosis of the left kidney. A voiding cystourethrogram showed no evidence of reflux. An a0rtogram showed bilateral normal vascularity.Cystoscopy and left retrograde pyelogram revealed an obstruction at the pelviureteric junction and for 1.5 cm below this level by multiple ureteral folds (Fig. 1). The infant underwent the Hynes-Anderson dismembered pyeloplasty. Two weeks following surgery, the infant became normotensive at 100/60 mm Hg. The blood pressure remained stable for the next year and a half. Multiple supine determinations of peripheral plasma-renin levels following surgerY have all been at the upper limits of normal at 1.9 ng/ml/hr with a normal sodium diet and without clinical evidence of volume depletion. A recent follow-up intravenous pyelogram showed moderate improvement in the hydronephrosis. DISCUSSION Experimental and clinical experiences in the past have shown that unilateral hydronephrosis may be associated with hypertension)-'~ Also, previously reported data by Vaughan and associates' have shown that levels of peripheral plasma renin were normal or occasionally low in 12 of 13 patients with unilateral chronic hydronephrosis with sustained arterial hypertension. Selective renal vein renin studies in five of the patients failed to show lateralization of the abnormal values of the renin to the hydronephrotic kidney or any contralateral renin Suppression, suggesting that the hypertension in these patients with chronic hydronephrosis was not primarily renin dependent. Hypertension with elevated levels of renal vein renin secondary to pelviureteric obstruction has been reported by Sequitieri and associates ~~and also by Chapman and Douglas. ~ In their reports on two of three patients with elevated values of renal vein renin preoperatively, nephrectomy apparently cured the hypertension in the patients with elevated values of renal vein renins. Chapman and Douglas s reported two children with hydronephrosis and elevated plasma levels of renin prior to surgery who have been cured of their hypertension by pyeloplasty. In one of their patients a follow-up plasma renin value returned to normal postoperatively. Belman and associates ~ reported a patient with hypertension and hydronephrosis secondary to pelviureteric obstruction, who had elevated renal vein activity, which reverted to normal following uretero-
Fig, 1. Left retrograde pyelogram demonstrating uretero-pelvic obstruction and ureteral folds. plasty. In our patient, the presenting systolic and diastolic hypertension was probably caused by activation of the renal pressor system with hyperreninemia secondary to the hydronephrosis. Following pyeloplasty and improved renal function with improvement in the hydronephrosis, the peripheral plasma renin values and blood Pressure measurements returned to normal. The data in our patient would therefore corroborate the findings of Chapman and Douglas ~ and of Belman and associates ~ and substantiate the benefits of pyeloplasty in lieu of nephrectomy in children with hydronephrosis and elevated values of renal vein renin. REFERENCES
1. Loggie JMH: Hypertension in childhood and adolescents, ~J PEDIATR74:331, 1969. 2. Blaufox MD: Systemic arterial hypertension in pediatric practice, Pediatr Clin North Am 18:577, 1971. 3. Lieberman, E: Essential hypertension in children and youth-A pediatric perspective, J PEDIATR85:1, 1974. 4. Kotchen TA, Strickland AL, Rice MS, and Wakers DR: A study of the renin-angiostensin system in newborn infants, J PEDIATR80:938, 1972. 5. Belman AB, Kropp KA, and Simon NM: Renal pressor hypertension secondary to unilateral hydronephrosis, N Engl J "IVied278:1133, 1968. 6. Nemoy NJ, Fichman MP, and Sellars A: Unilateral ureteral
Volume 88 Number 6
Brief clinical and laboratory observations
obstruction a cause of reversible high renin content hypertension, JAMA 225:512, 1973. 7. Davis RS, Manning JA, Branch GL, et al: Renovascular hypertension secondary to hydronephrosis in a solitary kidney, J Urol 110:724, 1973. 8. Chapman WS, and Douglas BS: Hypertension and unilateral hydronephrosis in children successfully treate d by pyelo-
Neonatal hyperglycemia and chromosome deletion (46,XX, Dq-) Jaakko Leisti, M.D., Kari Raivio, M.D., and Kai Krohn, M.D., Helsinki, Finland TRANSIENT HYPERGLYCEMIA is occasionally e n c o u n tered in Small-for-date n e w b o r n infants. 1" 2 It h a s b e e n suggested recently that this condition is due to delayed m a t u r a t i o n o f pancreatic beta cells? W e h a v e o b s e r v e d a patient with n e o n a t a l hyperglycemia, in w h o m a severe reduction in the n u m b e r o f beta cells o f the p a n c r e a s - r a t h e r t h a n a functional deficiency--may h a v e b e e n a causative factor. T h e pancreatic a b n o r m a l i t y was a feature o f a m a l f o r m a t i o n s y n d r o m e associated with a c h r o m o s o m e deletion. CASE REPORT The patient was born after an uneventful pregnancy to a 24year-old primigravida, who subsequently has had one miscarriage and one healthy child. The mother and father are healthy and each has normal chromosomes. The child was born at term by cesarean section because of placental insufficiency. The birth weight was 1,270 gm and the placenta weighed 210 gm. Apgar score was 4 and 7 at one and 10 minutes, respectively. At birth the following anomalies were noted: a prominent occiput with a head circumference of 29 cm, small and dysmorphic auricles, shallow nasal bridge with telecanthus, protruding upper lip, small mandible, wide median cleft palate, and microphthalmia a n d large retinal coloboma of the right eye. The cranial cavity transilluminated freely with the exception of the frontal region. The hands had only three fingers and the thumbs were abnormal. The short little fingers had single flexion creases. Bilateral clubfeet were present. The external genitals were hypoplastic with a small vulva and poorly developed labia. Anal atresia without rectovaginal fistula was present. Clinical course, At the age of two days a colostomy was performed, after Which the child did well except for hypergly-
From the Children's Hospital, University of HelsinkL
989
plasty: Report of two cases, J Pediatr Surg 10:281, 1975. Vaughan ED, Buhler FR, and Laragh JH: Normal renin secretions in hypertensive patients with primarily unilateral chronic hydronephrosis, J Urol 112:153, 1974. 10. Sequitieri AP, Ceccarelli F E, and Wurster JC: Hypertension with elevated renal v~in renins secondary to ureteropelvic junction obstruction, J Urol 111:284, 1974. 9.
cemia and slow gain in weight. At the age of 37 days the child died unexpectedly without premonitory signs. During the first four days of life the blood glucose values ranged from 33 to 112 mg/dl. During the second postoperative day values of 220 and 334 mg/dl were observed, and the infusion of 5% glucose was discontinued. Nevertheless, 12 hours later blood glucose was 610 mg/dl and 0.25 units of regular insulin were given intravenously. The blood glucose concentration decreased to 137 mg/dl over the next nine hours and remained normal until the age of two weeks. Thereafter the levels started to increase, and from the age of three weeks the basal blood glucose concentration remained above 500 mg/dl, necessitating administration of insulin. A good response was obtained with daily doses of 0.3 to 0.5 units, but the requirement soon increased and during the last week of life one unit was administered four times a day. Occasional blood glucose values were below 20 mg/dl, unaccompanied by symptoms, but the basal level remained high. Random samples of urine contained glucose in concentrations of 0.2% to 0.4%, but no ketone bodies were detected. Autopsy findings. Examination of the brain revealed a holoprosencephalic brain malformation, but the basal ganglia, pons, cerebellum, and hypophysis were macroscopically normal. The rectum ended in the posterior wall of the vagina. The lungs contained pneumonic infiltrations. The pancreas was small with a rudimentary head; the body and tail were missing. The number of the islets of Langerhans seemed normal in relation to the exocrine tissue. In sections of the pancreas stained with Gomori chrome-alum-hematoxylinephloxine stain a significant reduction in the ratio of beta cells to alpha cells was observed, when compared with six control cases (Table I). Cyt0genetie findings. Chromosomes of the patient and her parents were analyzed from peripheral leukocytes. 4 The patient's karyotype was 46,XX,Dq-, with about 30% of the long arm of a D-ctiromosome missing. DISCUSSION T h e distinguishing features o f the " D q - " s y n d r o m e in which the affected c h r o m o s o m e has b e e n s h o w n to be n u m b e r 13, include holoprosencephaly, m i c r o p h t h a l m i a , ocular colobomata, h y p o p l a s i a or aplasia o f t h u m b s , a n d genital anomalies o f t e n associated with i m p e r f o r a t e a n u s ? The features were present in o u r p a t i e n t .who thus represents a typical case o f " D q - " deletion syndrome. Hyperglycemia a n d glucosuria are rare d u r i n g the first
1970. 8. Ringrose RE, Jabbour JT, and Keele DK: Hemihypertrophy, Pediatrics 36:434, 1965. 9. Levy M, MacKinnon KJ, and Dossetor JB: Hemihypertrophy and medullary sponge kidney, Can Med Assoc J 96:1322, 1967. 10. Fraumeni JF Jr: Hemihypertrophy, in Bergsma D, editor: Birth defects: Atlas and compendium, Baltimore, 1973, Williams & Wilkins Company, p 466.
Hyperreninemic hypertension in an infant secondary to pelviureteric obstruction treated successfully by surgery Joseph A. Carella, M.D., F.A.A.P., and I. Silber, M.D., Irvine, Calif.
INCREASED ATTENTION has b e e n focused o n the etiology a n d t r e a t m e n t of hypertension in infants a n d children in recent pediatric literature. 1-:~ T h e p u r p o s e o f this report is to present a 3=nionth-old male i n f a n t with *Reprint address: 1201 W. LaVeta, No. 403, Orange, Calif. 92668.
B r i e f clinical and laboratory observations
987
11. Edmondson HA: Focal nodular hyperplasia, in Tumors of the liver and intrahepatic bile ducts, sect. VII-Fascicle 25, Washington, D.C., 1958, Armed Forces Institute of Pathology, pp 11-12 and 193-195. 12. Schmelling JW: Een bijzonder geval van aangeboren, multiple gezwellen in de lever (hamartomen) bij een kind van vier maanden, Ned Tijdschr Geneeskd 3:3566, 1934. 13. Tate RC, Chacko MV, Singh S, and Ogden L: Parenchymal hamartoma of the liver in infants and children, Am J Surg 123:346, 1972. 14. Edmondson HA: Differential diagnosis of tumors and tumorqike lesions of liver in infancy and childhood, Am J Dis Child 91:168, 1956. 15. Benz EJ, and Baggenst0ss AH: Focal cirrhosis of the liver: Its relation to the so-called hamartoma (adenoma, benign hepatoma), Cancer 6:743, 1953. 16. Whelan TJ Jr, Baugh JH, and Chandor S: Focal nodular hyperplasia of the liver, Ann Surg 177:150, 1973. 17. Everson RB, and Fraumcni JF J r : Familial glioblastoma with hepatic focal nodular hyperplasia, Cancer (in press). 18. Gerding WJ, Popp MF, and Martineau PC: Hamartomatous cholangiohepatoma. Report of a case, JAMA 145:821, 1951. 19. Mays ET, Christopherson WM, and Barrows GH: Focal nodular hyperplasia of the liver. Possible relationship to oral contraceptives, Am J Clin Pathol 61:735, 1974. 20. Christopherson WM, and Collier HS: Prlmary benign livercell tumors in infancy and childhood, Cancer 6:853, 1953. 21. Phillips MJ, Langer BI Stone R, Fisher MM, and Ritchie S: Benign liver cell tumors. Classification and ultrastructural pathology, Cancer 32:463, 1973.
h y p e r r e n i n e m i c h y p e r t e n s i o n secondary to pelviureteric obstruction, treated successfully by a pyeloplasty.
CASE REPORT Patient M. G., an 11 pound, 10 ounce Caucasian male, was first seen at age three months for evaluation of anorexia and increased irritability. The infant was the product of a term gestation, complicated by hyperemesis gravidarum "and mild toxemia. Family history included multiple members with hypertension, coronary artery disease, and hypercholesterolemia. Pertinent findings upon physical examination included a blood pressure of 140/100 mm Hg in the upper extremities and 170/130 mm Hg in the lower extremities, a negative funduscopic examination, normal cardiovascular system and peripheral arterial pulses, and no evidence of abdominal bruits or masses. Laboratory data included a normal complete blood count and normal concentrations of serum electrolytes, blood urea nitrogen, and creatinine. A plasma renin level was obtained in a supine position while the patient was receiving a diet of normal sodium content; when the patient had no clinical evidence of volume depletion, the level was 17.5 ng/ml/hr, hnmunoassayable plasma renin activity was measured by the New England nuclear,kit 11~:' enzymatic and radioimmune assay with normal adult supine values of 0.5-1.6 ng/ml/hr. Kotchen and associates4 reported
988
Brief clinical and laboratory observations
The Journal of Pediatrics June 1976
mean values ofimmunoassayable plasma-renin activity in infants at six weeks of age of 2.3 _+ 0.6 ng/ml/hr. These values were higher than in adult control subjects but lower ihan in values of plasma-renin activity in the first postnatal week which averaged 11.6 _-2-2.7 ng/ml/hr. Urinalysis and urine culture were negative, and values for 24-hour urinary excretion of catecholamines and vanillylmandelic acid were within normal range. Results of an electrocardiogram and chest roentgenogram were within normal limits. A rapid sequence intravenous pyelogram revealed delayed function and marked hydronephrosis of the left kidney. A voiding cystourethrogram showed no evidence of reflux. An a0rtogram showed bilateral normal vascularity.Cystoscopy and left retrograde pyelogram revealed an obstruction at the pelviureteric junction and for 1.5 cm below this level by multiple ureteral folds (Fig. 1). The infant underwent the Hynes-Anderson dismembered pyeloplasty. Two weeks following surgery, the infant became normotensive at 100/60 mm Hg. The blood pressure remained stable for the next year and a half. Multiple supine determinations of peripheral plasma-renin levels following surgerY have all been at the upper limits of normal at 1.9 ng/ml/hr with a normal sodium diet and without clinical evidence of volume depletion. A recent follow-up intravenous pyelogram showed moderate improvement in the hydronephrosis. DISCUSSION Experimental and clinical experiences in the past have shown that unilateral hydronephrosis may be associated with hypertension)-'~ Also, previously reported data by Vaughan and associates' have shown that levels of peripheral plasma renin were normal or occasionally low in 12 of 13 patients with unilateral chronic hydronephrosis with sustained arterial hypertension. Selective renal vein renin studies in five of the patients failed to show lateralization of the abnormal values of the renin to the hydronephrotic kidney or any contralateral renin Suppression, suggesting that the hypertension in these patients with chronic hydronephrosis was not primarily renin dependent. Hypertension with elevated levels of renal vein renin secondary to pelviureteric obstruction has been reported by Sequitieri and associates ~~and also by Chapman and Douglas. ~ In their reports on two of three patients with elevated values of renal vein renin preoperatively, nephrectomy apparently cured the hypertension in the patients with elevated values of renal vein renins. Chapman and Douglas s reported two children with hydronephrosis and elevated plasma levels of renin prior to surgery who have been cured of their hypertension by pyeloplasty. In one of their patients a follow-up plasma renin value returned to normal postoperatively. Belman and associates ~ reported a patient with hypertension and hydronephrosis secondary to pelviureteric obstruction, who had elevated renal vein activity, which reverted to normal following uretero-
Fig, 1. Left retrograde pyelogram demonstrating uretero-pelvic obstruction and ureteral folds. plasty. In our patient, the presenting systolic and diastolic hypertension was probably caused by activation of the renal pressor system with hyperreninemia secondary to the hydronephrosis. Following pyeloplasty and improved renal function with improvement in the hydronephrosis, the peripheral plasma renin values and blood Pressure measurements returned to normal. The data in our patient would therefore corroborate the findings of Chapman and Douglas ~ and of Belman and associates ~ and substantiate the benefits of pyeloplasty in lieu of nephrectomy in children with hydronephrosis and elevated values of renal vein renin. REFERENCES
1. Loggie JMH: Hypertension in childhood and adolescents, ~J PEDIATR74:331, 1969. 2. Blaufox MD: Systemic arterial hypertension in pediatric practice, Pediatr Clin North Am 18:577, 1971. 3. Lieberman, E: Essential hypertension in children and youth-A pediatric perspective, J PEDIATR85:1, 1974. 4. Kotchen TA, Strickland AL, Rice MS, and Wakers DR: A study of the renin-angiostensin system in newborn infants, J PEDIATR80:938, 1972. 5. Belman AB, Kropp KA, and Simon NM: Renal pressor hypertension secondary to unilateral hydronephrosis, N Engl J "IVied278:1133, 1968. 6. Nemoy NJ, Fichman MP, and Sellars A: Unilateral ureteral
Volume 88 Number 6
Brief clinical and laboratory observations
obstruction a cause of reversible high renin content hypertension, JAMA 225:512, 1973. 7. Davis RS, Manning JA, Branch GL, et al: Renovascular hypertension secondary to hydronephrosis in a solitary kidney, J Urol 110:724, 1973. 8. Chapman WS, and Douglas BS: Hypertension and unilateral hydronephrosis in children successfully treate d by pyelo-
Neonatal hyperglycemia and chromosome deletion (46,XX, Dq-) Jaakko Leisti, M.D., Kari Raivio, M.D., and Kai Krohn, M.D., Helsinki, Finland TRANSIENT HYPERGLYCEMIA is occasionally e n c o u n tered in Small-for-date n e w b o r n infants. 1" 2 It h a s b e e n suggested recently that this condition is due to delayed m a t u r a t i o n o f pancreatic beta cells? W e h a v e o b s e r v e d a patient with n e o n a t a l hyperglycemia, in w h o m a severe reduction in the n u m b e r o f beta cells o f the p a n c r e a s - r a t h e r t h a n a functional deficiency--may h a v e b e e n a causative factor. T h e pancreatic a b n o r m a l i t y was a feature o f a m a l f o r m a t i o n s y n d r o m e associated with a c h r o m o s o m e deletion. CASE REPORT The patient was born after an uneventful pregnancy to a 24year-old primigravida, who subsequently has had one miscarriage and one healthy child. The mother and father are healthy and each has normal chromosomes. The child was born at term by cesarean section because of placental insufficiency. The birth weight was 1,270 gm and the placenta weighed 210 gm. Apgar score was 4 and 7 at one and 10 minutes, respectively. At birth the following anomalies were noted: a prominent occiput with a head circumference of 29 cm, small and dysmorphic auricles, shallow nasal bridge with telecanthus, protruding upper lip, small mandible, wide median cleft palate, and microphthalmia a n d large retinal coloboma of the right eye. The cranial cavity transilluminated freely with the exception of the frontal region. The hands had only three fingers and the thumbs were abnormal. The short little fingers had single flexion creases. Bilateral clubfeet were present. The external genitals were hypoplastic with a small vulva and poorly developed labia. Anal atresia without rectovaginal fistula was present. Clinical course, At the age of two days a colostomy was performed, after Which the child did well except for hypergly-
From the Children's Hospital, University of HelsinkL
989
plasty: Report of two cases, J Pediatr Surg 10:281, 1975. Vaughan ED, Buhler FR, and Laragh JH: Normal renin secretions in hypertensive patients with primarily unilateral chronic hydronephrosis, J Urol 112:153, 1974. 10. Sequitieri AP, Ceccarelli F E, and Wurster JC: Hypertension with elevated renal v~in renins secondary to ureteropelvic junction obstruction, J Urol 111:284, 1974. 9.
cemia and slow gain in weight. At the age of 37 days the child died unexpectedly without premonitory signs. During the first four days of life the blood glucose values ranged from 33 to 112 mg/dl. During the second postoperative day values of 220 and 334 mg/dl were observed, and the infusion of 5% glucose was discontinued. Nevertheless, 12 hours later blood glucose was 610 mg/dl and 0.25 units of regular insulin were given intravenously. The blood glucose concentration decreased to 137 mg/dl over the next nine hours and remained normal until the age of two weeks. Thereafter the levels started to increase, and from the age of three weeks the basal blood glucose concentration remained above 500 mg/dl, necessitating administration of insulin. A good response was obtained with daily doses of 0.3 to 0.5 units, but the requirement soon increased and during the last week of life one unit was administered four times a day. Occasional blood glucose values were below 20 mg/dl, unaccompanied by symptoms, but the basal level remained high. Random samples of urine contained glucose in concentrations of 0.2% to 0.4%, but no ketone bodies were detected. Autopsy findings. Examination of the brain revealed a holoprosencephalic brain malformation, but the basal ganglia, pons, cerebellum, and hypophysis were macroscopically normal. The rectum ended in the posterior wall of the vagina. The lungs contained pneumonic infiltrations. The pancreas was small with a rudimentary head; the body and tail were missing. The number of the islets of Langerhans seemed normal in relation to the exocrine tissue. In sections of the pancreas stained with Gomori chrome-alum-hematoxylinephloxine stain a significant reduction in the ratio of beta cells to alpha cells was observed, when compared with six control cases (Table I). Cyt0genetie findings. Chromosomes of the patient and her parents were analyzed from peripheral leukocytes. 4 The patient's karyotype was 46,XX,Dq-, with about 30% of the long arm of a D-ctiromosome missing. DISCUSSION T h e distinguishing features o f the " D q - " s y n d r o m e in which the affected c h r o m o s o m e has b e e n s h o w n to be n u m b e r 13, include holoprosencephaly, m i c r o p h t h a l m i a , ocular colobomata, h y p o p l a s i a or aplasia o f t h u m b s , a n d genital anomalies o f t e n associated with i m p e r f o r a t e a n u s ? The features were present in o u r p a t i e n t .who thus represents a typical case o f " D q - " deletion syndrome. Hyperglycemia a n d glucosuria are rare d u r i n g the first
