782
Brief clinical and laboratory observations
The Journal of Pediatrics November 1976
dren, a p p e a r a n c e of a second p r i m a r y t u m o r m a y b e c o m e an i m p o r t a n t clinical consideration.
REFERENCES 1. Kersey JH, Spector BD, and Good RA: Primary immunodeficiency diseases and cancer: The immunodeficiencycancer registry, Int J Cancer 12:333, 1973. 2. Hoover R, and Fraumeni JF, Jr: Risk of cancer in renaltransplant recipients, Lancet 2:55, 1973. 3. Meadows AT, D'Angio GJ, Evans'AE, Harris CC, Miller RW, and Mike V: Oncogenesis and other late effects of cancer treatment in children, Radiology 114:175, 1975. 4. Li FP, Cassady JR, and Jaffe N: Risk of second tumors in survivors of childhood cancer, Cancer 35:1230, 1975. 5. Belpomme D; Carde P, Oldham RK, Math6 G, Jacquillat C,
Exocrine pancreatic insufficiency with congenital anomalies Arnold Schnssheim, M.D.,* Sook J a Choi, M.D., Brooklyn, N. Y., and Mervin Silverberg, M.D., Manhasset, N. Y.
PANCREATIC I N S U F F I C I E N C Y not due to cystic fibrosis is u n c o m m o n in the pediatric age group. T h r e e cases of a newly recognized s y n d r o m e o f p a n c r e a t i c insufficiency with mu!tip!e congenital a n o m a l i e s h a v e been reported by J o h a n s e n a n d Blizzard~; the case o f pancreatic insufficiency recorded here is c o m p a r e d to this syndrome a n d o t h e r similar ones.
CASE REPORT Patient A. O., a male infant, was born to a 20-year-old Puerto Rican mother who had had one previously normal pregnancy. There is a strong atopic family history, and the parents are first cousins. At birth the infant weighed 3,500 gin; head circumference was 37 cm; length was 52 cm. Abnormal physical findings were limite d to aplasia of the alae nasi and skin defects over the area of the anterior and posterior fontanel. At four weeks of age the weight droppe d to 2,765 gm; an abnormal stool analysis for total lipids lead to initiation of therapy with pancreatic extract on a presumptive diagnosis of pancreatic insufficiency. Prompt improvement in stool pattern and weight increments resulted.
From the Department of Pediatrics, State University of New York Downstate Medical Center, and North Shore University Hospital. *Reprint a&tress: Deflartment of Pediatrics, Downstate Medical Center, 450 Clarkson Ave., BrooklYn, N. I2 11203.
6. 7.
8. 9. 10.
Chelloul N, Weil M, Auclerc G, Weisgerber C, Tanzer T, and Bernard J: Malignancies possibly secondary to anticancer therapy, Recent Results Cancer Res 49:115, 1975. BeckwithJB: Mesenchymal renal neoplasms of infancy revisited, J PEDIATR Surg 9:803, 1974. Garcia-Bunuel R, and Brandes D: Fetal hamartoma of the kidney: Case report, with ultrastructural cytochemical observations, Johns Hopkins Med J 127:213, 1970. Favara BE, Johnson W, and Ito J: Renal tumors in the neonatal period, Cancer 22:845, 1968. Wigger HJ: Fetal mesenchymal hamartoma of kidney. A tumor of secondary mesenchyme, Cancer 36:1002, 1975. Fu Y, and Kay S: Congenital mesoblastic nephroma and its recurrence, an ultrastructural observation, Arch Pathol 96:66, 1973.
Several readmissions to the hospital followed because of bronchopneumonia and atopic dermatitis. During the first readmission, a left cutaneolacrimal duct fistula was noted; it responded to nonsurgical therapy. At the last examination at age 18 months the infant's growth was in the third percentile, and physical examination revealed healed scars of the scalp, closed anterior fontanel, sparse hair, and short square hands with incurving of the fifth fingers on each hand. There were ten small, peglike, erupted teeth. He was clinically deaf, hypotonic, and in general functioned on the developmental level "of an 8-month-old child. Stool pattern remained normal, except when administration of pancreatic extract was inadvertently omitted. I
Abbreviation used PI: pancreatic insufficiency
Laboratory data showed no hematologic or immunologic abnormalities. Cultures and serologic tests for infectious agents were normal as were complete thyroid studies. Growth hormone studies indicated a diminished response to adequat e insulin stimulation, but additional confirmation was not obtained. Fat excretion was measured in a 72-hour stool collection at four weeks of age; 45.3 gm of the 56.3 gm of lipids ingested were excreted as evidence of severe steatorrhea. Further malabsorptive studies including per-oral jejunal mucosal biopsy were normal, except for the duodenal aspirates studied at three and ten months of age. The fluroscopically positioned duodenal tube yielded clear, watery, alkaline fluid with normal concentration of bile salts on each occasion; there was no lipase and very low trypsin and amylase activities. A t age ten months there was no significant increase in enzyme activities either fasting or after a secretin pancreozymin stimulation test. Sweat electrolyte concentrations were normal on repeated occasions as were chromosomes and serum lipids and amino acid determinations. Radiologic studies of the gastrointestinal and urinary tracts and of the teeth and long bones were normal. Bone age was
Volume 89 Number 5
Brief clinical and laboratory observations
783
Table I. Comparison of Patient A.O. with three previously reported cases
Characteristic
Johansen and Blizzard1
Patient A. O.
Sex Consanguinity Aplastic alae nasi Aplasia curls Deafness Retardation Pancreatic insufficiency Hypothyroidism Microcephaly Low birth weight Growth retardation Small teeth Rectourogenital abnormalities Imperforate anus Abnormal intravenous pyelogram Atopic skin rash Cutaneo-lacrimal fistula Recurrent lung infections Clinodactyly Growth hormone deficiency
3F 0/3 3/3 3/3 3/3 3/3 3/3 3/3 3/ 3 2/3 3/3 2/3 3/3 2/3 3/3 0/3 0/3 0/3 0/3 0/3
M + + + + + + 0 0 0 + + 0 0 0 + + + + ?
delayed, and the nasal bones were underdeveloped. Audiometric studies including electronystagmographic reactions to cold water and torsion swing demonstrated bilateral eighth nerve damage involving,the cochlea and vestibula branches. DISCUSSION When Patient A. O. was six months of age, the three cases reported by Johansen and Blizzard ~ came to our attention, and the striking similarities were noted (Table I). Patient A. O. is the only male of these f o u r cases. He has none of the described rectourogenital anomalies, nor was there any evidence of primary or secondary hypothyroidism. The facial appearance with aplastic atae nasi, ectodermal scalp defects (aplasia cutis), deafness, and PI in the four patients strongly suggest that they have the same congenital disorder: The most c o m m o n cause of chronic exocrine PI in children is cystic fibrosis'-'; the recurrent pulmonary infection s of Patient A. O. made this diagnosis suspect; however, repeated sweat electrolyte concentrations were normal. It is interesting to speculate on the relationship of these four cases to other reported patients with PI. :'-'~ The second most common cause of PI in children is the Shwachman syndrome with bone marrow dysfunction and neutropenia and the association of metaphyseal dysostosis, Hirschsprung disease, and dwarfism. Townes ~ reporte d proteolyfic and lipolytic defects of Pancreatic secretion in a child noted to have imperforate anus which
Fig. 1. Appearance of Patient A.O. at seven months of age. also occurred in two of the three patients reported by Johansen and Blizzard? Imperforate anus as well as peculiar facies with beaklike nose similar to Patient A.O. was observed in a patient witti trypsinogen deficiency. 7 A patient with XXN Klinefelter syndrome who had hypoplastic alae nasi and deafness 8 is the only reported association of PI with a chromosomal abnormality. The consanguineous background of Patient A.O. suggests the possibility of a genetic etiology of this u n c o m m o n syndrome, although intrauterine infection causing PI has been reported? Pancreatic insufficiency should be looked for in children with the described abnormalities and failure to thr~ve a n d / o r diarrhea. A n example is the cartilage hair hypoplasia syndrome 1~ with associated malabsorption, steatorrhea, metaphyseal dysostosis, neutropenia, pneumonia, and Hirschsprung disease. Congenital PI may be associated with a broader spectrum of abnormalities than is presently recognized. REFERENCES
1. Johansen AJ, and Blizzard R: A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption, J PEDIATR 75:982, 1971. 2. Hadorn D: Diseases of the pancreas in children, Clin Gastroenterol 1:125, 1972. 3. Dow WF: Two brothers with congenital pancreatic exocrine insufficiency, neutropenia and dysgammaglobulinemia, Proc R Soc Med 66:1125, 1973. 4. Karjoo M, Koop CE, C0rnfeld D, et al: Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dy~strophy, Arch Dis Child 48:143, 1973.
784
Brief clinical and laboratory observations
5. Havlikova D, Vychytil O, and Jelinek J: The syndrome of congenital pancreatic insufficiency; chronic respiratory disease and chronic liver damage, Acta Paediatr Scand 56:676, 1967. 6. Townes PL: Proteolytic and lipolytic deficiency of the exocrine pancreas, J PEDIATR72:221, 1969. 7. Morris MD, and Fisher DA: Trypsinogen deficiency disease, Am J Dis Child 114:203, 1967. 8. Grand RJ, Rosen SW, and di Sant 'Agnese PA, et al: Unusual case of XXY Klinefelter's syndrome with
Identification of a carrier mother of a female patient with chronic granulomatous disease Sumio Miyazaki, M.D., Hiroyuki Shin, M.D., Nagahide Goya, M.D., and Akira Nakagawara, M.D., Fukuoka, JaPan CHRONIC GRANULOMATOUS D I S E A S E w a s originally described as a syndrome affecting male children with a pattern of familial occurrence suggesting X-linked inheritance. We studied an affected girl and her family members; the patient's mother was found to be a carrier of CGD.
CASE REPORT The patient was the product of an uncomplicated pregnancy and delivery. Birth weight was 2.9 kg (6.5 pounds). She was first admitted to Kyushu University Hospital at the age of two years, chronically ill with cervical and inguinal adenopathy, intermittent fever, and neutrophilia. Over a six-year period she received treatment for recurrent and persistent cervical lymphadenitis, pneumonia, and sepsis. At this hospital admission, hepatomegaly was noted, and surgery performed for a liver abscess from which Staphylococcus auteus was cultured. Histologic examination of the wall of the abscess revealed granulomas with many macrophages containing pigmented lipid. There were a few eosinophils in the granuloma. Serum concentrations of immunoglobulins were elevated; IgG was 2,850 rag, IgA 410 mg, and IgM 360 mg/dl. The patient's lymphocytes responded normally in vitro to PHA, and normal
From the Departments of Pediatrics and Biochemistky, Kyushu University Medical School Reprint address: Department of Pediatrics, Kyushu University Medical School, Fukuoka, 812, Japan.
The Journal of Pediatrics November 1976
pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly, Am J Med 4U478, 1966. Donowitz M, and Gryboski JD: Pancreatic insufficiency and the congenital rubella syndrome, J PEDIAT~ 87:241, 1975. 10. McKusick VA, Eldridge R, and Hostetler JA, et al: Dwarfism in the Amish II. Cartilage hair hypoplasia, Bull Hopkins Hosp 116:285, 1965.
delayed hypersensitivity reactions were obtained with PPD, candida, PHA, and mumps antigens. Normal migration of leukocytes was demonstrated by means of skin windows. The patient had 46XX normal female karyotype. Blood grouping studies for the patient and her parents did not indicate nonpaternity.
METHODS The N B T dye reduction test was carried out by the method of Baehner and Nathan 1 as modified by Windhorst and associates.'-' The quantitative N B T test was done by the method of Baehner and N a t h a n ? In vitro bactericidal capacity of human leukocytes was determined by the method of Quie and associates? The release of superoxide anion O2 was measured by cytochalasin E induced reduction of exogenous cytochrome C ? Abbreviations used CGD: chronic granulomatous disease Ig: immunoglobulin PHA: phytohemagg!utinin PPD: purified protein derivative NBT: nitroblue tetrazolium OD: optical density PMN: polymorphonuclear leukocytes G-6-PD: glucose-6-phosphate dehydrogenase RESULTS The reduction of NBT dye occurred in 70 to 80% of PMN in normal controls and in those o f the patient's father and sister. The patient, by contrast, showed reduction of NBT dye in 8% of PMN. The patient's mother showed intermediate levels with 28% dye reduction. Ingestion of latex particles was essentially the same with P M N of the patient and normal controls. Results of quantitative N B T test are expressed as A O D (latex phagocytosing cells minus resting cells) (Fig. 1). In the affected female patient, N B T test yielded the value of A O D 0.02. The A O D values of her father and sister were normal (0.21 and 0.20, respectively). The A OD value of her mother, however, was intermediate (0.11).
Brief clinical and laboratory observations
The Journal of Pediatrics November 1976
dren, a p p e a r a n c e of a second p r i m a r y t u m o r m a y b e c o m e an i m p o r t a n t clinical consideration.
REFERENCES 1. Kersey JH, Spector BD, and Good RA: Primary immunodeficiency diseases and cancer: The immunodeficiencycancer registry, Int J Cancer 12:333, 1973. 2. Hoover R, and Fraumeni JF, Jr: Risk of cancer in renaltransplant recipients, Lancet 2:55, 1973. 3. Meadows AT, D'Angio GJ, Evans'AE, Harris CC, Miller RW, and Mike V: Oncogenesis and other late effects of cancer treatment in children, Radiology 114:175, 1975. 4. Li FP, Cassady JR, and Jaffe N: Risk of second tumors in survivors of childhood cancer, Cancer 35:1230, 1975. 5. Belpomme D; Carde P, Oldham RK, Math6 G, Jacquillat C,
Exocrine pancreatic insufficiency with congenital anomalies Arnold Schnssheim, M.D.,* Sook J a Choi, M.D., Brooklyn, N. Y., and Mervin Silverberg, M.D., Manhasset, N. Y.
PANCREATIC I N S U F F I C I E N C Y not due to cystic fibrosis is u n c o m m o n in the pediatric age group. T h r e e cases of a newly recognized s y n d r o m e o f p a n c r e a t i c insufficiency with mu!tip!e congenital a n o m a l i e s h a v e been reported by J o h a n s e n a n d Blizzard~; the case o f pancreatic insufficiency recorded here is c o m p a r e d to this syndrome a n d o t h e r similar ones.
CASE REPORT Patient A. O., a male infant, was born to a 20-year-old Puerto Rican mother who had had one previously normal pregnancy. There is a strong atopic family history, and the parents are first cousins. At birth the infant weighed 3,500 gin; head circumference was 37 cm; length was 52 cm. Abnormal physical findings were limite d to aplasia of the alae nasi and skin defects over the area of the anterior and posterior fontanel. At four weeks of age the weight droppe d to 2,765 gm; an abnormal stool analysis for total lipids lead to initiation of therapy with pancreatic extract on a presumptive diagnosis of pancreatic insufficiency. Prompt improvement in stool pattern and weight increments resulted.
From the Department of Pediatrics, State University of New York Downstate Medical Center, and North Shore University Hospital. *Reprint a&tress: Deflartment of Pediatrics, Downstate Medical Center, 450 Clarkson Ave., BrooklYn, N. I2 11203.
6. 7.
8. 9. 10.
Chelloul N, Weil M, Auclerc G, Weisgerber C, Tanzer T, and Bernard J: Malignancies possibly secondary to anticancer therapy, Recent Results Cancer Res 49:115, 1975. BeckwithJB: Mesenchymal renal neoplasms of infancy revisited, J PEDIATR Surg 9:803, 1974. Garcia-Bunuel R, and Brandes D: Fetal hamartoma of the kidney: Case report, with ultrastructural cytochemical observations, Johns Hopkins Med J 127:213, 1970. Favara BE, Johnson W, and Ito J: Renal tumors in the neonatal period, Cancer 22:845, 1968. Wigger HJ: Fetal mesenchymal hamartoma of kidney. A tumor of secondary mesenchyme, Cancer 36:1002, 1975. Fu Y, and Kay S: Congenital mesoblastic nephroma and its recurrence, an ultrastructural observation, Arch Pathol 96:66, 1973.
Several readmissions to the hospital followed because of bronchopneumonia and atopic dermatitis. During the first readmission, a left cutaneolacrimal duct fistula was noted; it responded to nonsurgical therapy. At the last examination at age 18 months the infant's growth was in the third percentile, and physical examination revealed healed scars of the scalp, closed anterior fontanel, sparse hair, and short square hands with incurving of the fifth fingers on each hand. There were ten small, peglike, erupted teeth. He was clinically deaf, hypotonic, and in general functioned on the developmental level "of an 8-month-old child. Stool pattern remained normal, except when administration of pancreatic extract was inadvertently omitted. I
Abbreviation used PI: pancreatic insufficiency
Laboratory data showed no hematologic or immunologic abnormalities. Cultures and serologic tests for infectious agents were normal as were complete thyroid studies. Growth hormone studies indicated a diminished response to adequat e insulin stimulation, but additional confirmation was not obtained. Fat excretion was measured in a 72-hour stool collection at four weeks of age; 45.3 gm of the 56.3 gm of lipids ingested were excreted as evidence of severe steatorrhea. Further malabsorptive studies including per-oral jejunal mucosal biopsy were normal, except for the duodenal aspirates studied at three and ten months of age. The fluroscopically positioned duodenal tube yielded clear, watery, alkaline fluid with normal concentration of bile salts on each occasion; there was no lipase and very low trypsin and amylase activities. A t age ten months there was no significant increase in enzyme activities either fasting or after a secretin pancreozymin stimulation test. Sweat electrolyte concentrations were normal on repeated occasions as were chromosomes and serum lipids and amino acid determinations. Radiologic studies of the gastrointestinal and urinary tracts and of the teeth and long bones were normal. Bone age was
Volume 89 Number 5
Brief clinical and laboratory observations
783
Table I. Comparison of Patient A.O. with three previously reported cases
Characteristic
Johansen and Blizzard1
Patient A. O.
Sex Consanguinity Aplastic alae nasi Aplasia curls Deafness Retardation Pancreatic insufficiency Hypothyroidism Microcephaly Low birth weight Growth retardation Small teeth Rectourogenital abnormalities Imperforate anus Abnormal intravenous pyelogram Atopic skin rash Cutaneo-lacrimal fistula Recurrent lung infections Clinodactyly Growth hormone deficiency
3F 0/3 3/3 3/3 3/3 3/3 3/3 3/3 3/ 3 2/3 3/3 2/3 3/3 2/3 3/3 0/3 0/3 0/3 0/3 0/3
M + + + + + + 0 0 0 + + 0 0 0 + + + + ?
delayed, and the nasal bones were underdeveloped. Audiometric studies including electronystagmographic reactions to cold water and torsion swing demonstrated bilateral eighth nerve damage involving,the cochlea and vestibula branches. DISCUSSION When Patient A. O. was six months of age, the three cases reported by Johansen and Blizzard ~ came to our attention, and the striking similarities were noted (Table I). Patient A. O. is the only male of these f o u r cases. He has none of the described rectourogenital anomalies, nor was there any evidence of primary or secondary hypothyroidism. The facial appearance with aplastic atae nasi, ectodermal scalp defects (aplasia cutis), deafness, and PI in the four patients strongly suggest that they have the same congenital disorder: The most c o m m o n cause of chronic exocrine PI in children is cystic fibrosis'-'; the recurrent pulmonary infection s of Patient A. O. made this diagnosis suspect; however, repeated sweat electrolyte concentrations were normal. It is interesting to speculate on the relationship of these four cases to other reported patients with PI. :'-'~ The second most common cause of PI in children is the Shwachman syndrome with bone marrow dysfunction and neutropenia and the association of metaphyseal dysostosis, Hirschsprung disease, and dwarfism. Townes ~ reporte d proteolyfic and lipolytic defects of Pancreatic secretion in a child noted to have imperforate anus which
Fig. 1. Appearance of Patient A.O. at seven months of age. also occurred in two of the three patients reported by Johansen and Blizzard? Imperforate anus as well as peculiar facies with beaklike nose similar to Patient A.O. was observed in a patient witti trypsinogen deficiency. 7 A patient with XXN Klinefelter syndrome who had hypoplastic alae nasi and deafness 8 is the only reported association of PI with a chromosomal abnormality. The consanguineous background of Patient A.O. suggests the possibility of a genetic etiology of this u n c o m m o n syndrome, although intrauterine infection causing PI has been reported? Pancreatic insufficiency should be looked for in children with the described abnormalities and failure to thr~ve a n d / o r diarrhea. A n example is the cartilage hair hypoplasia syndrome 1~ with associated malabsorption, steatorrhea, metaphyseal dysostosis, neutropenia, pneumonia, and Hirschsprung disease. Congenital PI may be associated with a broader spectrum of abnormalities than is presently recognized. REFERENCES
1. Johansen AJ, and Blizzard R: A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption, J PEDIATR 75:982, 1971. 2. Hadorn D: Diseases of the pancreas in children, Clin Gastroenterol 1:125, 1972. 3. Dow WF: Two brothers with congenital pancreatic exocrine insufficiency, neutropenia and dysgammaglobulinemia, Proc R Soc Med 66:1125, 1973. 4. Karjoo M, Koop CE, C0rnfeld D, et al: Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dy~strophy, Arch Dis Child 48:143, 1973.
784
Brief clinical and laboratory observations
5. Havlikova D, Vychytil O, and Jelinek J: The syndrome of congenital pancreatic insufficiency; chronic respiratory disease and chronic liver damage, Acta Paediatr Scand 56:676, 1967. 6. Townes PL: Proteolytic and lipolytic deficiency of the exocrine pancreas, J PEDIATR72:221, 1969. 7. Morris MD, and Fisher DA: Trypsinogen deficiency disease, Am J Dis Child 114:203, 1967. 8. Grand RJ, Rosen SW, and di Sant 'Agnese PA, et al: Unusual case of XXY Klinefelter's syndrome with
Identification of a carrier mother of a female patient with chronic granulomatous disease Sumio Miyazaki, M.D., Hiroyuki Shin, M.D., Nagahide Goya, M.D., and Akira Nakagawara, M.D., Fukuoka, JaPan CHRONIC GRANULOMATOUS D I S E A S E w a s originally described as a syndrome affecting male children with a pattern of familial occurrence suggesting X-linked inheritance. We studied an affected girl and her family members; the patient's mother was found to be a carrier of CGD.
CASE REPORT The patient was the product of an uncomplicated pregnancy and delivery. Birth weight was 2.9 kg (6.5 pounds). She was first admitted to Kyushu University Hospital at the age of two years, chronically ill with cervical and inguinal adenopathy, intermittent fever, and neutrophilia. Over a six-year period she received treatment for recurrent and persistent cervical lymphadenitis, pneumonia, and sepsis. At this hospital admission, hepatomegaly was noted, and surgery performed for a liver abscess from which Staphylococcus auteus was cultured. Histologic examination of the wall of the abscess revealed granulomas with many macrophages containing pigmented lipid. There were a few eosinophils in the granuloma. Serum concentrations of immunoglobulins were elevated; IgG was 2,850 rag, IgA 410 mg, and IgM 360 mg/dl. The patient's lymphocytes responded normally in vitro to PHA, and normal
From the Departments of Pediatrics and Biochemistky, Kyushu University Medical School Reprint address: Department of Pediatrics, Kyushu University Medical School, Fukuoka, 812, Japan.
The Journal of Pediatrics November 1976
pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly, Am J Med 4U478, 1966. Donowitz M, and Gryboski JD: Pancreatic insufficiency and the congenital rubella syndrome, J PEDIAT~ 87:241, 1975. 10. McKusick VA, Eldridge R, and Hostetler JA, et al: Dwarfism in the Amish II. Cartilage hair hypoplasia, Bull Hopkins Hosp 116:285, 1965.
delayed hypersensitivity reactions were obtained with PPD, candida, PHA, and mumps antigens. Normal migration of leukocytes was demonstrated by means of skin windows. The patient had 46XX normal female karyotype. Blood grouping studies for the patient and her parents did not indicate nonpaternity.
METHODS The N B T dye reduction test was carried out by the method of Baehner and Nathan 1 as modified by Windhorst and associates.'-' The quantitative N B T test was done by the method of Baehner and N a t h a n ? In vitro bactericidal capacity of human leukocytes was determined by the method of Quie and associates? The release of superoxide anion O2 was measured by cytochalasin E induced reduction of exogenous cytochrome C ? Abbreviations used CGD: chronic granulomatous disease Ig: immunoglobulin PHA: phytohemagg!utinin PPD: purified protein derivative NBT: nitroblue tetrazolium OD: optical density PMN: polymorphonuclear leukocytes G-6-PD: glucose-6-phosphate dehydrogenase RESULTS The reduction of NBT dye occurred in 70 to 80% of PMN in normal controls and in those o f the patient's father and sister. The patient, by contrast, showed reduction of NBT dye in 8% of PMN. The patient's mother showed intermediate levels with 28% dye reduction. Ingestion of latex particles was essentially the same with P M N of the patient and normal controls. Results of quantitative N B T test are expressed as A O D (latex phagocytosing cells minus resting cells) (Fig. 1). In the affected female patient, N B T test yielded the value of A O D 0.02. The A O D values of her father and sister were normal (0.21 and 0.20, respectively). The A OD value of her mother, however, was intermediate (0.11).
