- Email: [email protected]
Coexistent hemophilia A and idiopathic thrombocytopenic purpura
Volume 90 Number 5
Brief clinical and laboratory observations
routine manner with C S F have generally overestimated glucose v a l u e s . " : Swietek and associates ~ modified the technique to improve the accuracy of CSF determinations with Dextrostix. Unfortunately, their method was time consuming and cumbersome. Accuracy of this modification of the Dextrostix technique is dependent upon several critical factors including: quality control of the Dextrostix reagent sirips; frequent calibration of the reflectometer (at least twice daily); adequate sample size to completely cover the tip of the reagent strip; and strict adherence to the 45-second incubation period. Dextrostix-45 values were consistent with those obtained by the reference glucose oxidase method over a glucose concentration range of 10 to 160 m g / d l and a protein range of 11 to 1,000 m g / d l . These values are well within the scope of those c o m m o n l y encountered in CSF analysis. Therefore, it is suggested that the use of Dextrostix with a 45-second incubation period and the reflectometer may provide a rapid and accurate bedside estimation of C S F glucose.
Coexistent hemophilia A and idiopathic thrombocytopenic purpura Marilyn A. Hruby, M.D., Chicago, Ill.
THE PRESENCE o f unrelated congenital or acquired hematologic disorders in patients with factor VIII deficient hemophilia has previously been reported. These associated conditions have included congenital factor V deficiency,' acute leukemia, ~ an abnormal fibrinogen,:' hereditary hemorrhagic telangiectasia/ a functional abnormality of the platelets,:'." and thrombocytopenia secondary to hypersplenism5 In this report we present the findings of two unusual cases of chronic idiopathic thrombocytopenia occurring in hemophilic patients, with a successful outcome following splenectomy in one case. From the Department of Pediatrics, Northwestern University and Children's Memorial Hospital *Reprint address: Children's Memorial Hospital 2300 Children's Plaza Chicago, 1L 60614.
7 73
REFERENCES
1. Jarrett R J, Keen H, and Hardwick C: "Instant" blood sugar measurement using Dextrostix and a reflectance meter, Diabetes 19:724, 1970. 2. Mazzaferri EL, Skillman TG, Lanese RR, and Keller MP: Use of test strips with colour meter to measure blood glucose, Lancet 1:331, 1970. 3. Scherstein B, Kuhl C, Hollender A, and Ekman R: Blood glucose measurements with Dextrostix and new reflectance meter, Br Med J 3:387, i974. 4. Ente G, Klein SW, and Paraswanath BS: Evaluation of a direct-reading reflectometer for neonatal hypoglycemia screening, Am J Clin Pathol 61:612, 1974. 5. Frantz ID, Medina G, and Taeusch HW: Correlation of Dextrostix values with true glucose in the range less than 50 mg/dl, J PEDIATR87:417, 1975. 6. Marks V, and Dawson A: Rapid stick method for determining blood-glucose concentration, Br Med J 1:293, 1965. 7. Swietek KR, Luebben G, and Cornblath M: Screening method for determining glucose in blood and cerebrospinal fluid, Am J Dis Child 117:672, 1969.
CASE REPORTS Case 1. A 19-year-old Mexican-American boy had a history of easy bruising, hematoma formation, and prolonged bleeding from minor lacerations beginning at two years of age, which led to a diagnosis of mild factor VIII deficient hemophilia (t0% factor VIII). A younger brother was found to be similarly affected. The patient was first noted to be thrombocytopenic in 1964 at the age of seven years when epistaxis appeared and bruising increased in frequency. The platelet count at that time was 27,000/mmL A diagnosis of acute idiopathic thrombocytopenic purpura was made on the basis of history, physical findings, and bone marrow examination. The platelet count returned to normal spontaneously within a few weeks. Over the next three and one-half years the patient was noted to be moderately thrombocytopenic on several occasions. Because of his asymptomatic course, no therapy was instituted. Platelet counts obtained from all family members were within the normal range. In June, 1973, he was admitted to the hospital with findings suggestive of a retroperitoneal hemorrhage. Treatment with daily infusions of cryoprecipitate or factor VIII concentrate resulted in a complete recovery. Two weeks after discharge the patient was readmitted with symptoms, physical findings, and laboratory evidence consistent with a diagnosis of acute hepatitis. However, results of tests for hepatitis B antigen and antibody were negative as were serologic tests for toxoplasmosis, cytomegalovirus, syphilis, infectious mononucleosis, and antinuclear antibody. All marrow cellular elements were again present in normal numbers. As his clinical condition improved, the platelet count increased from 60,000 to 265,000/mm:'. Liver function tests returned to normal,
774
Brief clinical and laboratory observations
The Journal of Pediatrics May 1977
400
:.it,,. I
350
"E s ~oo
PREONISONE
>c 250 ~200
8 150
d tO0
50 .;= i
i
ici5
t
i
L
L
i
19G4 I 5 1966 1967 1968 1972 1973
i
i
i
1974 ,a
td
.
=
tp
.
Fig. 1. Representative platelet counts obtained during the course of observation of Case 1 demonstrate a rise in platelet counts in response to prednisone therapy and to splenectomy. Prednisone dose is shown as milligrams per day.
but thrombocytopenia recurred and reached a level of 25,000/ mm:'; it was accompanied by increased bleeding symptoms. Therapy with prednisone was followed by a prompt rise in the platelet count. A platelet count of 100,000/mm ' or above was subsequently maintained with prednisone in a dose of 20 to 30 rag/day (Fig. 1). Because of the steroid-dependent nature of the thrombocytopenia, splenectomy was performed in July, 1974. An infusion of factor VIII concentrate was administered immediately prior to the surgery and was repeated one or more times daily in the postoperative period to maintain factor VIII levels above 30%. No excessive bleeding occurred, and his recovery was uneventful. The platelet count reached a maximum level of 875,000/mm , one week postsplenectomy and thereafter returned to within the normal range where it has remained for the past two years. The spleen was of normal size and histologic appearance. As expected, the factor VIII level in the patient has remained unchanged following removal of the spleen (factor VIII 6 to 11%). Examination of a liver biopsy specimen obtained at the time of surgery revealed evidence o f fatty metamorphosis and mild periportal inflammatory infiltrate. Case 2. A 26-month-old boy was found to have severe factor VIII deficiency (factor VIII < 1%) at three days of age following prolonged bleeding from a circumcision. At 14 months of age he was admitted to the hospital because of head trauma and was found to have a platelet count of 78,000/mm'. The child had been well prior to his injury and a follow-up platelet count three days later was 145,000/mm :'. No further work-up was undertaken at that time. Three months later the child was noted to have sudden onset of petechiae and diffuse purpura associated with a platelet count of 36,000/mm :~. The history, physical findings, bone marrow examination, and other laboratory studies supported a diagnosis of idiopathic thrombocytopenic purpura. Although the platelet count was nearly normal six weeks later, severe thrombocytopenia has recurred several times in the ensuing eight months, The management has consisted of an initial three-week course of corticosteriods (which was without benefit) and, because the child is a very active toddler, use of prophylactic factor VIii concentrate material during subsequent periods when the platelet count fell below 50,O00/mm:'.
DISCUSSION Normal hemostasis depends on the function of both the platelet mechanism and the soluble clotting factor system. Qualitative or quantitative alterations in either of these intricately related hemostatic processes results in characteristic hemorrhagic manifestations. The coexistence of two major coagulation defects in the same patient might. therefore, be expected to increase the risk of serious bleeding. ! t has been previously demonstrated that ingestion of aspirin by hemophilic patients may result in marked prolongation of the bleeding time as well as impairment of platelet f u n c t i o n / Thus, avoidance of aspirin by such patients is now generally recommended because o f the additional hemostatic abnormality it imposes. Similarly, severe thrombocytopenia, by interfering with the normal primary hemostatic mechanism in patients with hemophilia, may result in an exaggeration of the bleeding manifestations which one might expect to occur from either coagulation defect alone. The etiology of thrombocytopenia in Case 1 appears to be consistent with recurrent idiopathic thrombocytopenia beginning in childhood. The tendency toward spontaneous improvement, as seen initially in this patient, is characteristic of the course of idiopathic thrombocytopenic purpura in children. Familial thrombocytopenia was excluded as were infectious and immunologic processes known to be associated with thrombocytopenia. Dependence on corticosteroids to maintain the platelet count above 50,000/mm:* necessitated splenectomy in an attempt to alleviate one major hemostatic defect in this patient. The availability of concentrated factor VIII preparations has allowed patients with hemophilia A to safely undergo all types of major surgical procedures. Several cases of successful removal of the spleen in such patients have previously been reportedS. " Providing the presence of a circulating anticoagulant to factor VIII is eliminated
Volume 90 Number 5
Brief clinical and laboratory observations
in each case and an adequate supply of concentrated replacement material is available, splenectomy in classical hemophilia should be performed whenever indicated. Hesitancy to do so has been fatal in at least one case. '~ The young age of the second patient of this report precludes consideration of splenectomy at this time, Therefore, prophylactic factor VIII concentrate has been used to control one major coagulation abnormality. REFERENCES 1. Iversen T, and Bastrup-Madsen P: Congenital familial deficiency of factor V (parahaemophilia) combined with deficiency of antihaemophilic globulin, Br J Haematol 2:265, 1956. 2. Green D: Acute promyelocytic leukemia in a patient with hemophilia, Thromb Diath Haemorrh 27:516, 1972. 3. Sherman LA, Gaston LW, Kaplan ME, and Spivack AR: Fibrinogen St. Louis: A new inherited fibrinogen variant, coincidentally associated with hemophilia A, J Clin Invest 51:590, 1972.
Type I hyperlipoproteinemia in an 8-day-old infant Nauru Sudan, M.D.,* M. M. Drucker, M.D., Israel Arber, M.Sc., Dina Joseph, M.Sc., Schmuel Franco, M.D., and Menachem S. Shapiro, M.D., Kfar Saba, Israel
TYPE I HYPERLIPOPROTEINEMIA is a rare familial disease characterized clinically by hepatosplenomegaly, attacks of a b d o m i n a l pain, recurrent acute pancreatitis, and eruptive xanthomata. The biochemical hallmark of the disease is the presence of hyperchylomicronemia in fasting plasma. The basic abnormality is considered to be a deficiency in plasma postheparin triglyceride lipase.' Descriptions of afflicted families have been presented in several recent reviews. ~. 3 The purpose of this communication is to report an additional case in which the presence of Type I hyperlipoproteinemia was detected in an 8-day-old infant. From the Department of Pediatrics, the Laboratories and Department of Internal Medicine "C, "" Meir Hospital. *Reprint address: Department of Pediatrics, Meir Hasvital, Kfar Saba, Israel.
775
4. Esham RH, Skilling FC, Dodson WH, and Hammack WJ: Hereditary hemorrhagic telangiectasia and factor VIII deficiency, Arch Intern Med 134:327, 1974. 5. Call KE, Mull MM, and Hathaway WE: Platelet function in classic (AHF:deficiency) hemophilia: Report of a case with defective platelet function, Blood 33:26, 1969. 6. Chesney C, Colman RW, and Pechet L: Syndrome of platelet release abnormality and mild hemophilia, Blood 43:821, 1974. 7. Gaston LW, Baue AE, Pfaff DA, and Wise L: Spleno-renal shunt, cholecystectomy, and appendectomy in a patient with hemophilia A, an abnormal fibrinogen, and thrombocytopenia, Ann Surg 173:234, 1971. 8. Kasper CK, and Rapaport SI: Bleeding times and platelet aggregation after analgesics in hemophilia, Ann Intern Med 77:189, 1972. 9. Baron JM, Kingdon HS, Block GE, and Gottschalk A: Splenectomy in a hemophiliac, Surg Clin North Am 50:205, 1970. 10. Stout C, Hampton JW, Anderson JD, and Oruc N: Fatal nontraumatic splenic rupture in hemophilia and the Kasabach-Merritt syndrome, South Med J 66:791, 1973.
CASE REPORT The patient, an 8-day-old female infant, was referred for evaluation of jaundice. She weighed 3.3 kg at birth and was the product of an uncomplicated 9 month gestation and birth, The parents, who are first cousins, and a 5-year-old brother were in good health. Physical examination on admission revealed a healthy infant with moderately icteric skin and sclerae. The liver was palpable 4 cm, and the spleen 2 cm, beneath the costal margins. Eruptive xanthomata and lipemia retinalis were not noted. The remainder of the examination was unremarkable. The patient's Serum was noted to be "milky" in appearance. A thick creamy band was noted floating on top of the plasma with a turbid infranatant following refrigeration of a sample for 24 hours. Chemical analyses disclosed hypercholesterolemia4 and hypertrig!yceridemia5 (Table 1). The presence of hyperchylomicronemia was demonstrated by Millipore agarose gel electrophoresis (Fig. l, B) and substantiated by ultracentrifugation of plasma. 6 Abbreviation used PHLA: postheparin lipolytic activity
]
Postheparin lipolytic activity, measured while the patient received a regular diet, was negligible.7 The serum turbidity interferred with the determination of bilirubin concentration. The icterus subsided spontaneously, however, one week after hospitalization. At this time liver function tests were normal. Glucose tolerance test, serum thyroxine, immunoelectrophoresis, serum amylase, and lupus erythematous preparations were also normal. Pure carbohydrate diet was administered for three days; the
Brief clinical and laboratory observations
routine manner with C S F have generally overestimated glucose v a l u e s . " : Swietek and associates ~ modified the technique to improve the accuracy of CSF determinations with Dextrostix. Unfortunately, their method was time consuming and cumbersome. Accuracy of this modification of the Dextrostix technique is dependent upon several critical factors including: quality control of the Dextrostix reagent sirips; frequent calibration of the reflectometer (at least twice daily); adequate sample size to completely cover the tip of the reagent strip; and strict adherence to the 45-second incubation period. Dextrostix-45 values were consistent with those obtained by the reference glucose oxidase method over a glucose concentration range of 10 to 160 m g / d l and a protein range of 11 to 1,000 m g / d l . These values are well within the scope of those c o m m o n l y encountered in CSF analysis. Therefore, it is suggested that the use of Dextrostix with a 45-second incubation period and the reflectometer may provide a rapid and accurate bedside estimation of C S F glucose.
Coexistent hemophilia A and idiopathic thrombocytopenic purpura Marilyn A. Hruby, M.D., Chicago, Ill.
THE PRESENCE o f unrelated congenital or acquired hematologic disorders in patients with factor VIII deficient hemophilia has previously been reported. These associated conditions have included congenital factor V deficiency,' acute leukemia, ~ an abnormal fibrinogen,:' hereditary hemorrhagic telangiectasia/ a functional abnormality of the platelets,:'." and thrombocytopenia secondary to hypersplenism5 In this report we present the findings of two unusual cases of chronic idiopathic thrombocytopenia occurring in hemophilic patients, with a successful outcome following splenectomy in one case. From the Department of Pediatrics, Northwestern University and Children's Memorial Hospital *Reprint address: Children's Memorial Hospital 2300 Children's Plaza Chicago, 1L 60614.
7 73
REFERENCES
1. Jarrett R J, Keen H, and Hardwick C: "Instant" blood sugar measurement using Dextrostix and a reflectance meter, Diabetes 19:724, 1970. 2. Mazzaferri EL, Skillman TG, Lanese RR, and Keller MP: Use of test strips with colour meter to measure blood glucose, Lancet 1:331, 1970. 3. Scherstein B, Kuhl C, Hollender A, and Ekman R: Blood glucose measurements with Dextrostix and new reflectance meter, Br Med J 3:387, i974. 4. Ente G, Klein SW, and Paraswanath BS: Evaluation of a direct-reading reflectometer for neonatal hypoglycemia screening, Am J Clin Pathol 61:612, 1974. 5. Frantz ID, Medina G, and Taeusch HW: Correlation of Dextrostix values with true glucose in the range less than 50 mg/dl, J PEDIATR87:417, 1975. 6. Marks V, and Dawson A: Rapid stick method for determining blood-glucose concentration, Br Med J 1:293, 1965. 7. Swietek KR, Luebben G, and Cornblath M: Screening method for determining glucose in blood and cerebrospinal fluid, Am J Dis Child 117:672, 1969.
CASE REPORTS Case 1. A 19-year-old Mexican-American boy had a history of easy bruising, hematoma formation, and prolonged bleeding from minor lacerations beginning at two years of age, which led to a diagnosis of mild factor VIII deficient hemophilia (t0% factor VIII). A younger brother was found to be similarly affected. The patient was first noted to be thrombocytopenic in 1964 at the age of seven years when epistaxis appeared and bruising increased in frequency. The platelet count at that time was 27,000/mmL A diagnosis of acute idiopathic thrombocytopenic purpura was made on the basis of history, physical findings, and bone marrow examination. The platelet count returned to normal spontaneously within a few weeks. Over the next three and one-half years the patient was noted to be moderately thrombocytopenic on several occasions. Because of his asymptomatic course, no therapy was instituted. Platelet counts obtained from all family members were within the normal range. In June, 1973, he was admitted to the hospital with findings suggestive of a retroperitoneal hemorrhage. Treatment with daily infusions of cryoprecipitate or factor VIII concentrate resulted in a complete recovery. Two weeks after discharge the patient was readmitted with symptoms, physical findings, and laboratory evidence consistent with a diagnosis of acute hepatitis. However, results of tests for hepatitis B antigen and antibody were negative as were serologic tests for toxoplasmosis, cytomegalovirus, syphilis, infectious mononucleosis, and antinuclear antibody. All marrow cellular elements were again present in normal numbers. As his clinical condition improved, the platelet count increased from 60,000 to 265,000/mm:'. Liver function tests returned to normal,
774
Brief clinical and laboratory observations
The Journal of Pediatrics May 1977
400
:.it,,. I
350
"E s ~oo
PREONISONE
>c 250 ~200
8 150
d tO0
50 .;= i
i
ici5
t
i
L
L
i
19G4 I 5 1966 1967 1968 1972 1973
i
i
i
1974 ,a
td
.
=
tp
.
Fig. 1. Representative platelet counts obtained during the course of observation of Case 1 demonstrate a rise in platelet counts in response to prednisone therapy and to splenectomy. Prednisone dose is shown as milligrams per day.
but thrombocytopenia recurred and reached a level of 25,000/ mm:'; it was accompanied by increased bleeding symptoms. Therapy with prednisone was followed by a prompt rise in the platelet count. A platelet count of 100,000/mm ' or above was subsequently maintained with prednisone in a dose of 20 to 30 rag/day (Fig. 1). Because of the steroid-dependent nature of the thrombocytopenia, splenectomy was performed in July, 1974. An infusion of factor VIII concentrate was administered immediately prior to the surgery and was repeated one or more times daily in the postoperative period to maintain factor VIII levels above 30%. No excessive bleeding occurred, and his recovery was uneventful. The platelet count reached a maximum level of 875,000/mm , one week postsplenectomy and thereafter returned to within the normal range where it has remained for the past two years. The spleen was of normal size and histologic appearance. As expected, the factor VIII level in the patient has remained unchanged following removal of the spleen (factor VIII 6 to 11%). Examination of a liver biopsy specimen obtained at the time of surgery revealed evidence o f fatty metamorphosis and mild periportal inflammatory infiltrate. Case 2. A 26-month-old boy was found to have severe factor VIII deficiency (factor VIII < 1%) at three days of age following prolonged bleeding from a circumcision. At 14 months of age he was admitted to the hospital because of head trauma and was found to have a platelet count of 78,000/mm'. The child had been well prior to his injury and a follow-up platelet count three days later was 145,000/mm :'. No further work-up was undertaken at that time. Three months later the child was noted to have sudden onset of petechiae and diffuse purpura associated with a platelet count of 36,000/mm :~. The history, physical findings, bone marrow examination, and other laboratory studies supported a diagnosis of idiopathic thrombocytopenic purpura. Although the platelet count was nearly normal six weeks later, severe thrombocytopenia has recurred several times in the ensuing eight months, The management has consisted of an initial three-week course of corticosteriods (which was without benefit) and, because the child is a very active toddler, use of prophylactic factor VIii concentrate material during subsequent periods when the platelet count fell below 50,O00/mm:'.
DISCUSSION Normal hemostasis depends on the function of both the platelet mechanism and the soluble clotting factor system. Qualitative or quantitative alterations in either of these intricately related hemostatic processes results in characteristic hemorrhagic manifestations. The coexistence of two major coagulation defects in the same patient might. therefore, be expected to increase the risk of serious bleeding. ! t has been previously demonstrated that ingestion of aspirin by hemophilic patients may result in marked prolongation of the bleeding time as well as impairment of platelet f u n c t i o n / Thus, avoidance of aspirin by such patients is now generally recommended because o f the additional hemostatic abnormality it imposes. Similarly, severe thrombocytopenia, by interfering with the normal primary hemostatic mechanism in patients with hemophilia, may result in an exaggeration of the bleeding manifestations which one might expect to occur from either coagulation defect alone. The etiology of thrombocytopenia in Case 1 appears to be consistent with recurrent idiopathic thrombocytopenia beginning in childhood. The tendency toward spontaneous improvement, as seen initially in this patient, is characteristic of the course of idiopathic thrombocytopenic purpura in children. Familial thrombocytopenia was excluded as were infectious and immunologic processes known to be associated with thrombocytopenia. Dependence on corticosteroids to maintain the platelet count above 50,000/mm:* necessitated splenectomy in an attempt to alleviate one major hemostatic defect in this patient. The availability of concentrated factor VIII preparations has allowed patients with hemophilia A to safely undergo all types of major surgical procedures. Several cases of successful removal of the spleen in such patients have previously been reportedS. " Providing the presence of a circulating anticoagulant to factor VIII is eliminated
Volume 90 Number 5
Brief clinical and laboratory observations
in each case and an adequate supply of concentrated replacement material is available, splenectomy in classical hemophilia should be performed whenever indicated. Hesitancy to do so has been fatal in at least one case. '~ The young age of the second patient of this report precludes consideration of splenectomy at this time, Therefore, prophylactic factor VIII concentrate has been used to control one major coagulation abnormality. REFERENCES 1. Iversen T, and Bastrup-Madsen P: Congenital familial deficiency of factor V (parahaemophilia) combined with deficiency of antihaemophilic globulin, Br J Haematol 2:265, 1956. 2. Green D: Acute promyelocytic leukemia in a patient with hemophilia, Thromb Diath Haemorrh 27:516, 1972. 3. Sherman LA, Gaston LW, Kaplan ME, and Spivack AR: Fibrinogen St. Louis: A new inherited fibrinogen variant, coincidentally associated with hemophilia A, J Clin Invest 51:590, 1972.
Type I hyperlipoproteinemia in an 8-day-old infant Nauru Sudan, M.D.,* M. M. Drucker, M.D., Israel Arber, M.Sc., Dina Joseph, M.Sc., Schmuel Franco, M.D., and Menachem S. Shapiro, M.D., Kfar Saba, Israel
TYPE I HYPERLIPOPROTEINEMIA is a rare familial disease characterized clinically by hepatosplenomegaly, attacks of a b d o m i n a l pain, recurrent acute pancreatitis, and eruptive xanthomata. The biochemical hallmark of the disease is the presence of hyperchylomicronemia in fasting plasma. The basic abnormality is considered to be a deficiency in plasma postheparin triglyceride lipase.' Descriptions of afflicted families have been presented in several recent reviews. ~. 3 The purpose of this communication is to report an additional case in which the presence of Type I hyperlipoproteinemia was detected in an 8-day-old infant. From the Department of Pediatrics, the Laboratories and Department of Internal Medicine "C, "" Meir Hospital. *Reprint address: Department of Pediatrics, Meir Hasvital, Kfar Saba, Israel.
775
4. Esham RH, Skilling FC, Dodson WH, and Hammack WJ: Hereditary hemorrhagic telangiectasia and factor VIII deficiency, Arch Intern Med 134:327, 1974. 5. Call KE, Mull MM, and Hathaway WE: Platelet function in classic (AHF:deficiency) hemophilia: Report of a case with defective platelet function, Blood 33:26, 1969. 6. Chesney C, Colman RW, and Pechet L: Syndrome of platelet release abnormality and mild hemophilia, Blood 43:821, 1974. 7. Gaston LW, Baue AE, Pfaff DA, and Wise L: Spleno-renal shunt, cholecystectomy, and appendectomy in a patient with hemophilia A, an abnormal fibrinogen, and thrombocytopenia, Ann Surg 173:234, 1971. 8. Kasper CK, and Rapaport SI: Bleeding times and platelet aggregation after analgesics in hemophilia, Ann Intern Med 77:189, 1972. 9. Baron JM, Kingdon HS, Block GE, and Gottschalk A: Splenectomy in a hemophiliac, Surg Clin North Am 50:205, 1970. 10. Stout C, Hampton JW, Anderson JD, and Oruc N: Fatal nontraumatic splenic rupture in hemophilia and the Kasabach-Merritt syndrome, South Med J 66:791, 1973.
CASE REPORT The patient, an 8-day-old female infant, was referred for evaluation of jaundice. She weighed 3.3 kg at birth and was the product of an uncomplicated 9 month gestation and birth, The parents, who are first cousins, and a 5-year-old brother were in good health. Physical examination on admission revealed a healthy infant with moderately icteric skin and sclerae. The liver was palpable 4 cm, and the spleen 2 cm, beneath the costal margins. Eruptive xanthomata and lipemia retinalis were not noted. The remainder of the examination was unremarkable. The patient's Serum was noted to be "milky" in appearance. A thick creamy band was noted floating on top of the plasma with a turbid infranatant following refrigeration of a sample for 24 hours. Chemical analyses disclosed hypercholesterolemia4 and hypertrig!yceridemia5 (Table 1). The presence of hyperchylomicronemia was demonstrated by Millipore agarose gel electrophoresis (Fig. l, B) and substantiated by ultracentrifugation of plasma. 6 Abbreviation used PHLA: postheparin lipolytic activity
]
Postheparin lipolytic activity, measured while the patient received a regular diet, was negligible.7 The serum turbidity interferred with the determination of bilirubin concentration. The icterus subsided spontaneously, however, one week after hospitalization. At this time liver function tests were normal. Glucose tolerance test, serum thyroxine, immunoelectrophoresis, serum amylase, and lupus erythematous preparations were also normal. Pure carbohydrate diet was administered for three days; the