sought and excluded. Although no bacterial pathogens were isolated from this patient, leptospiral cultures were not obtained and serologic studies were not performed. The child's clinical, laboratory, and roentgenographic features, including hydrops of the gallbladder, were all compatible with the diagnosis of leptospirosis.3 Furthermore, thrombocytopenia is a common finding in leptospirosis, even without concurrent disseminated intravascular coagulation.4,5 LESLIE L. BARTON, MD Department of Pediatrics/ Adolescent Medicine Division of Infectious Diseases ALLAN D. FRIEDMAN, MD Department of Pediatrics/ Adolescent Medicine Division of Ambulatory Pediatrics St Louis University School of Medicine 1465 S Grand Blvd St Louis, MO 63104 1. Krowchuk DP, Kumar ML, Vielhaber MM, Danish EH. Kawasaki disease presenting with thrombocytopenia. AJDC. 1990;144:19-20. 2. Rowley AH, Gonzalez-Crussi F, Shulman ST. Kawasaki syndrome. Rev Infect Dis. 1988;
10:1-15. 3. Barton LL, Escobedo MB, Keating JP, Ternberg JL. Leptospirosis with acalculous cholecystitis. AJDC. 1973;126:350-351. 4. Edwards CN, Nicholson GD, Hassell TA, Everard COR, Callender J. Thrombocytopenia in leptospirosis: the absence of evidence for disseminated intravascular coagulation. Am J Trop Med
Hyg. 1986;35:352-354. 5. Edwards CN, Nicholson GD, Everard COR. Thrombocytopenia in leptospirosis. Am J Trop Med Hyg. 1982;31:827-829.
In Reply. \p=m-\Weappreciate the thoughtful comments of Drs Barton and Friedman suggesting the possibility that the child described by us1 may have suffered from leptospirosis rather than Kawasaki disease. As they noted, establishing a diagnosis of Kawasaki disease rests on both the observation of typical clinical manifestations and the exclusion of other processes that might produce similar symptoms and signs. Among the many conditions appropriately included in the differential diagnosis of Kawasaki disease is
leptospirosis. Leptospirosis is a systemic infection characterized by a widespread vascu-
litis and may share with Kawasaki disease a number of the clinical and laboratory features observed in our
patient, including fever, diarrhea, vomiting, rash, conjunctival and pharyngeal injection, thrombocytopenia, and hydrops of the gallbladder.2,3
While it is not possible to exclude, with certainty, a diagnosis of leptospirosis in the child described by us, several aspects of her illness were unique to Kawasaki disease and lent strong support to this diagnosis. First, our patient exhibited fissuring of the lips and typical subungual desquama¬ tion, mucocutaneous changes that are observed commonly in Kawasaki dis¬ ease but that have not been reported in cases of leptospirosis. Among nine children with leptospirosis described by Wong et al,4 two exhibited periph¬ eral desquamation. However, in the one child whose case was documented fully in this report,4 the desquamation accompanied gangrene of the extrem¬ ities, findings more severe than those observed in Kawasaki disease. Second, our
patient improved dramatically
within 24 hours of receiving her first dose of intravenous gamma globulin and high-dose aspirin. While we are unaware of trials examining the effi¬ cacy of these agents in the treatment of leptospirosis, such prompt clinical responses occur commonly in children with Kawasaki disease who are treated with intravenous gamma glob¬ ulin.6 Finally, although thrombocyto¬ penia may occur in both leptospirosis6-7 and Kawasaki disease,18 our patient's early thrombocytopenia was followed by thrombocytosis (1220 x 10VL on day 15 of her illness). Such thrombo¬ cytosis is typical of Kawasaki disease9 but has not, to our knowledge, been reported in cases of leptospirosis. Even though leptospirosis and Ka¬ wasaki disease share many similari¬ ties, we believe that the unique clinical and laboratory features of our pa¬ tient's illness strongly support a di¬ agnosis of Kawasaki disease. However, Drs Barton and Friedman offer sound advice when they state that other conditions, among them leptospirosis, must be considered in the differential diagnosis of Kawasaki disease. Daniel P. Krowchuk, MD Departments of Pediatrics and
Dermatology
MARY L. KUMAR, MD MARTA M. VIELHABER, MD ELIZABETH H. DANISH, MD Department of Pediatrics Case Western Reserve University School of Medicine at Metro\x=req-\ Health Medical Center 3395 Scranton Rd Cleveland, OH 44109 1. Krowchuk DP, Kumar ML, Vielhaber MM, Danish EH. Kawasaki disease presenting with
thrombocytopenia. AJDC 1990;144:19-20. 2. Feigin RD, Anderson DC. Leptospirosis. In: Feigin RD, Cherry JD, eds. Textbook of Pediatric Infectious Diseases. Philadelphia, Pa: WB Saunders Co; 1987;1190-1205. 3. Barton LL, Escobedo MD, Keating JP, Ternberg JL. Leptospirosis with acalculous cholecystis. AJDC. 1973;126:350-351. 4. Wong ML, Kaplan S, Dunkle LM, Stechenberg BW, Feigin RD. Leptospirosis: a childhood disease. J Pediatr. 1977;90:532-537. 5. Newburger JW, Takahashi M, Burns JC, et al. The treatment of Kawasaki syndrome with intravenous gamma globulin. N Engl J Med. 1986;315:341-347. 6. Edwards CN, Nicholson GD, Everard COR. Thrombocytopenia in leptospirosis. Am J Trop Med Hyg. 1982;31:827-829. 7. Edwards CN, Nicholson GD, Hassell TA, Everard COR, Callender J. Thrombocytopenia in leptospirosis: the absence of evidence for disseminated intravascular coagulation. Am J Trop Med Hyg. 1986;35:352-354. 8. Hara T, Mizuno Y, Akeda H, et al. Thrombocytopenia: a complication of Kawasaki disease. Eur J Pediatr. 1988;147:51-53. 9. Hicks RV, Melish ME. Kawasaki syndrome. Pediatr Clin North Am. 1986;33:1151-1175.
Phenylketonuria Screening Tests for American Children Born Outside the United States Sir.\p=m-\A16-month-old American boy, born outside the United States, when seen for routine care presented with signs of delayed development. He had not had a newborn screening test and he had phenylketonuria (PKU). This case suggests there is a need to screen American children born outside the United States for PKU when they return if they do not have documented negative test results. Routine screening should be done of those children younger than 1 year, regardless of development, and after 1 year of age if their development is not appropriate. Parents should be urged to have screening tests done if they live outside the country. Newborn screening results should be part of the immunization records. Early detection and screening for PKU became widely accepted in the mid-1960s in the United States.1 States vary with regard to conditions and the timing for screening. The American Academy of Pediatrics Committee for Newborn Screening recommends that the timing be 24 hours after birth and before 7 days of age.2 It is suggested that children adopted from other countries be screened for different conditions, tak¬ ing into consideration their age, na¬ tionality, etc.8 Herein, we document the importance of performing PKU screening on all infants and young children born outside the United
Downloaded From: http://archpedi.jamanetwork.com/ by a Monash University Library User on 06/19/2015
States. The
screening should be done
at their first visit if documented neg¬ ative test results are not available.
This suggestion is the conclusion of the following case presentation. Patient Report.—A 16-month-old white male toddler was seen at a clinic for routine health maintenance. The parents were Americans living and working as teachers in Hong Kong at the time of an uncompli¬ cated full-term pregnancy and delivery. Birth weight was 3780 g. The parents did not recall any blood testing being done after birth. The child was in good health and grew well with no history of seizures or eczema. He sat at 8.5 months of age but was not walking before 16 months. A 2.5year-old male sibling born in the United States was in good health and developing normally. Growth measurements included weight, 50th percentile; height, 25th percentile; and head circumference, 30th per¬ centile for his age. A Denver Development Screen showed considerable delay, espe¬ cially in speech development—he was not using meaningful syllables. His physical findings were normal, including blue eyes and blond hair. Following a formal devel¬ opmental assessment that confirmed cog¬ nitive delays, he was involved in an early educational program. A follow-up at 20 months of age revealed normal growth, and he started to walk at 16 months of age. However, he showed no improvement in his speech. Because the parents did not recall any metabolic screen¬ ing being done after birth, screening tests were done to elucidate his development delay. The phenylalanine screen was abnormal-20 mg/dL. He was referred to the University of Minnesota Hospital PKU Clinic, Minne¬ apolis. His serum phenylalanine was 24.7 mg/dL and his serum tyrosine was 0.7 mg/dL. Urinary metabolites tested pos¬ itive for phenylketones. A phenylalaninereduced diet was initiated. At 22 months of age the Bailey Scales of Infant Develop¬ ment revealed a mental age of 6.3 months and a psychomotor age of 16 months.
Comment— This discussion is re¬ stricted to PKU screening only. Our recommendation is that every Ameri¬ can child born outside the United States who does not have documented negative test results for PKU should be tested—up to 1 year of age rou¬ tinely, and even after 1 year of age if the child's normal development is questionable. Newborn screening test dates and results should be part of pédiatrie records. A physician who is aware that a patient's family is moving to another country should emphasize the need of expected infants to undergo PKU screening. If the test is not available, the screening could be arranged
through the mail, using screening test papers, by Department.
the usual the State
ROBERT O.
FISCH, MD Department of Pediatrics Box 384, University Hospitals Minneapolis, MN 55455 ANDREW THOMAS, MD Group Health Inc
2165 White Bear Ave St Paul, MN 55109 1. Recommended Guideline for PKU Programs, Washington, DC: US Dept of Health, Education, and Welfare, Welfare Administration, Children's Bureau; 1966. 2. American Academy of Pediatrics Committee on Genetics. Newborn screening fact sheets. Pediatrics. 1989;83:449-464. 3. Hostetter M, Johnson DE. International adoption: an introduction for physicians. AJDC.
THE TOXOPLASMOSIS STUDY GROUP Michael Reese Medical Center, Chicago. Principal Investigator: Rima McLeod, MD; Da¬ vid Fisher, MD, Douglas Mack, MS, D. Patel, MD, William Schey, MD, Lazlo Stein, PhD, Shawn Withers, RN. The University of Chicago Pritzker School of Medicine, Chicago. Principal Investigator: Rima McLeod, MD; Physician Coordinator: Daniel Johnson, MD; Jeanne Beckman, PhD, Paul Meier, PhD, Nancy Roizen, MD, Mark Stein, PhD. Rush-Presbyterian-St Luke's Medical Cen¬ ter, Chicago. Coprincipal Investigator: Kenneth Boyer, MD. Children's Memorial Hospital, Northwestern University, Chicago. Marilyn Mets, MD, Charles Swisher, MD. 1. Koskiniemi M, Lappalainen J, Hedman K. Toxoplasmosis needs evaluation: an overview and proposals. AJDC. 1989;143:724-728.
1989;143:325-332.
Renal Anomalies in Familial
Congenital Toxoplasmosis Sir.\p=m-\Thearticle by Koskiniemi et al1 that appeared in the June 1989 issue of AJDC illustrates the great need for controlled data concerning optimal means to diagnose and treat congenital toxoplasmosis. We are conducting a randomized, prospective study to
evaluate treatment and outcome of patients with congenital toxoplasmosis. This national collaborative study is supported by the National Institutes of Allergy and Infectious Diseases, the March of Dimes, and the Food and Drug Administration, Orphan Drugs Division. Patients are stratified based on severity of their disease. They are then randomized to one of three treatment regimens, which include pyrimethamine, sulfonamides, folinic acid, and
spiramycin.
To ensure uniform evaluation, patients are evaluated at the study center in Chicago, Ill, at ages 0 to 2 months and 1, 3.5, 5.5, 8, and 15 years. Evaluation includes assessments of the patient's immunologic response to Toxoplasma gondii and assessments by specialists in pediatric infectious
disease, neurology, ophthalmology, development, neuroradiology, and audiology. Patients under the age of 2 months with congenital toxoplasmosis may be referred to our national collaborative study by calling (312) 791-4152. THE TOXOPLASMOSIS STUDY GROUP 114 Baumgarten Pavilion Michael Reese Medical Center 31st Street and South Lake Shore Drive Chicago, IL 60616
Polythelia Sir.\p=m-\Bortzet al1 described
an
Ameri-
family of four (mother, father, and two sons) with supernumerary nipples can
but without associated renal anomalies. They commented that familial
polythelia as a single congenital anomaly is not associated with renal anom-
alies. Bortz et al also referred to three previously reported cases of families with familial polythelia. Two families were presented by Hersh et al2 and the third family by Klinkerfuss.3 The two families described by Hersh et al both had significant associated renal anomalies. In one family the mother had a renal cyst and her daughter had a multicystic kidney. In the second family the father had hydronephrosis and his son had a small but normally
functioning kidney. We
are aware
of several other
ex-
amples of the familial occurrence of polythelia. Birkenfeld4 reported the occurrence of polythelia in twins. Marie5 described a family with 20 members in four generations who had supernumerary nipples. Graham\x=req-\ Campbell6 described a mother with 10 supernumerary nipples who had a child with one supernumerary nipple. Weinberg and Motulsky7 described a family of six female adults from two generations who had bilateral super¬ numerary axillary breasts without nipples or areolae. Rintala and Norio8 reported a dysplastic divided nipple (intra-areola polythelia) bilaterally in a mother, her two daughters, and her son. One of the daughters had a total duplication of the right renal pelvis and ureter. Other affected family members were not investigated for
Downloaded From: http://archpedi.jamanetwork.com/ by a Monash University Library User on 06/19/2015
10:1-15. 3. Barton LL, Escobedo MB, Keating JP, Ternberg JL. Leptospirosis with acalculous cholecystitis. AJDC. 1973;126:350-351. 4. Edwards CN, Nicholson GD, Hassell TA, Everard COR, Callender J. Thrombocytopenia in leptospirosis: the absence of evidence for disseminated intravascular coagulation. Am J Trop Med
Hyg. 1986;35:352-354. 5. Edwards CN, Nicholson GD, Everard COR. Thrombocytopenia in leptospirosis. Am J Trop Med Hyg. 1982;31:827-829.
In Reply. \p=m-\Weappreciate the thoughtful comments of Drs Barton and Friedman suggesting the possibility that the child described by us1 may have suffered from leptospirosis rather than Kawasaki disease. As they noted, establishing a diagnosis of Kawasaki disease rests on both the observation of typical clinical manifestations and the exclusion of other processes that might produce similar symptoms and signs. Among the many conditions appropriately included in the differential diagnosis of Kawasaki disease is
leptospirosis. Leptospirosis is a systemic infection characterized by a widespread vascu-
litis and may share with Kawasaki disease a number of the clinical and laboratory features observed in our
patient, including fever, diarrhea, vomiting, rash, conjunctival and pharyngeal injection, thrombocytopenia, and hydrops of the gallbladder.2,3
While it is not possible to exclude, with certainty, a diagnosis of leptospirosis in the child described by us, several aspects of her illness were unique to Kawasaki disease and lent strong support to this diagnosis. First, our patient exhibited fissuring of the lips and typical subungual desquama¬ tion, mucocutaneous changes that are observed commonly in Kawasaki dis¬ ease but that have not been reported in cases of leptospirosis. Among nine children with leptospirosis described by Wong et al,4 two exhibited periph¬ eral desquamation. However, in the one child whose case was documented fully in this report,4 the desquamation accompanied gangrene of the extrem¬ ities, findings more severe than those observed in Kawasaki disease. Second, our
patient improved dramatically
within 24 hours of receiving her first dose of intravenous gamma globulin and high-dose aspirin. While we are unaware of trials examining the effi¬ cacy of these agents in the treatment of leptospirosis, such prompt clinical responses occur commonly in children with Kawasaki disease who are treated with intravenous gamma glob¬ ulin.6 Finally, although thrombocyto¬ penia may occur in both leptospirosis6-7 and Kawasaki disease,18 our patient's early thrombocytopenia was followed by thrombocytosis (1220 x 10VL on day 15 of her illness). Such thrombo¬ cytosis is typical of Kawasaki disease9 but has not, to our knowledge, been reported in cases of leptospirosis. Even though leptospirosis and Ka¬ wasaki disease share many similari¬ ties, we believe that the unique clinical and laboratory features of our pa¬ tient's illness strongly support a di¬ agnosis of Kawasaki disease. However, Drs Barton and Friedman offer sound advice when they state that other conditions, among them leptospirosis, must be considered in the differential diagnosis of Kawasaki disease. Daniel P. Krowchuk, MD Departments of Pediatrics and
Dermatology
MARY L. KUMAR, MD MARTA M. VIELHABER, MD ELIZABETH H. DANISH, MD Department of Pediatrics Case Western Reserve University School of Medicine at Metro\x=req-\ Health Medical Center 3395 Scranton Rd Cleveland, OH 44109 1. Krowchuk DP, Kumar ML, Vielhaber MM, Danish EH. Kawasaki disease presenting with
thrombocytopenia. AJDC 1990;144:19-20. 2. Feigin RD, Anderson DC. Leptospirosis. In: Feigin RD, Cherry JD, eds. Textbook of Pediatric Infectious Diseases. Philadelphia, Pa: WB Saunders Co; 1987;1190-1205. 3. Barton LL, Escobedo MD, Keating JP, Ternberg JL. Leptospirosis with acalculous cholecystis. AJDC. 1973;126:350-351. 4. Wong ML, Kaplan S, Dunkle LM, Stechenberg BW, Feigin RD. Leptospirosis: a childhood disease. J Pediatr. 1977;90:532-537. 5. Newburger JW, Takahashi M, Burns JC, et al. The treatment of Kawasaki syndrome with intravenous gamma globulin. N Engl J Med. 1986;315:341-347. 6. Edwards CN, Nicholson GD, Everard COR. Thrombocytopenia in leptospirosis. Am J Trop Med Hyg. 1982;31:827-829. 7. Edwards CN, Nicholson GD, Hassell TA, Everard COR, Callender J. Thrombocytopenia in leptospirosis: the absence of evidence for disseminated intravascular coagulation. Am J Trop Med Hyg. 1986;35:352-354. 8. Hara T, Mizuno Y, Akeda H, et al. Thrombocytopenia: a complication of Kawasaki disease. Eur J Pediatr. 1988;147:51-53. 9. Hicks RV, Melish ME. Kawasaki syndrome. Pediatr Clin North Am. 1986;33:1151-1175.
Phenylketonuria Screening Tests for American Children Born Outside the United States Sir.\p=m-\A16-month-old American boy, born outside the United States, when seen for routine care presented with signs of delayed development. He had not had a newborn screening test and he had phenylketonuria (PKU). This case suggests there is a need to screen American children born outside the United States for PKU when they return if they do not have documented negative test results. Routine screening should be done of those children younger than 1 year, regardless of development, and after 1 year of age if their development is not appropriate. Parents should be urged to have screening tests done if they live outside the country. Newborn screening results should be part of the immunization records. Early detection and screening for PKU became widely accepted in the mid-1960s in the United States.1 States vary with regard to conditions and the timing for screening. The American Academy of Pediatrics Committee for Newborn Screening recommends that the timing be 24 hours after birth and before 7 days of age.2 It is suggested that children adopted from other countries be screened for different conditions, tak¬ ing into consideration their age, na¬ tionality, etc.8 Herein, we document the importance of performing PKU screening on all infants and young children born outside the United
Downloaded From: http://archpedi.jamanetwork.com/ by a Monash University Library User on 06/19/2015
States. The
screening should be done
at their first visit if documented neg¬ ative test results are not available.
This suggestion is the conclusion of the following case presentation. Patient Report.—A 16-month-old white male toddler was seen at a clinic for routine health maintenance. The parents were Americans living and working as teachers in Hong Kong at the time of an uncompli¬ cated full-term pregnancy and delivery. Birth weight was 3780 g. The parents did not recall any blood testing being done after birth. The child was in good health and grew well with no history of seizures or eczema. He sat at 8.5 months of age but was not walking before 16 months. A 2.5year-old male sibling born in the United States was in good health and developing normally. Growth measurements included weight, 50th percentile; height, 25th percentile; and head circumference, 30th per¬ centile for his age. A Denver Development Screen showed considerable delay, espe¬ cially in speech development—he was not using meaningful syllables. His physical findings were normal, including blue eyes and blond hair. Following a formal devel¬ opmental assessment that confirmed cog¬ nitive delays, he was involved in an early educational program. A follow-up at 20 months of age revealed normal growth, and he started to walk at 16 months of age. However, he showed no improvement in his speech. Because the parents did not recall any metabolic screen¬ ing being done after birth, screening tests were done to elucidate his development delay. The phenylalanine screen was abnormal-20 mg/dL. He was referred to the University of Minnesota Hospital PKU Clinic, Minne¬ apolis. His serum phenylalanine was 24.7 mg/dL and his serum tyrosine was 0.7 mg/dL. Urinary metabolites tested pos¬ itive for phenylketones. A phenylalaninereduced diet was initiated. At 22 months of age the Bailey Scales of Infant Develop¬ ment revealed a mental age of 6.3 months and a psychomotor age of 16 months.
Comment— This discussion is re¬ stricted to PKU screening only. Our recommendation is that every Ameri¬ can child born outside the United States who does not have documented negative test results for PKU should be tested—up to 1 year of age rou¬ tinely, and even after 1 year of age if the child's normal development is questionable. Newborn screening test dates and results should be part of pédiatrie records. A physician who is aware that a patient's family is moving to another country should emphasize the need of expected infants to undergo PKU screening. If the test is not available, the screening could be arranged
through the mail, using screening test papers, by Department.
the usual the State
ROBERT O.
FISCH, MD Department of Pediatrics Box 384, University Hospitals Minneapolis, MN 55455 ANDREW THOMAS, MD Group Health Inc
2165 White Bear Ave St Paul, MN 55109 1. Recommended Guideline for PKU Programs, Washington, DC: US Dept of Health, Education, and Welfare, Welfare Administration, Children's Bureau; 1966. 2. American Academy of Pediatrics Committee on Genetics. Newborn screening fact sheets. Pediatrics. 1989;83:449-464. 3. Hostetter M, Johnson DE. International adoption: an introduction for physicians. AJDC.
THE TOXOPLASMOSIS STUDY GROUP Michael Reese Medical Center, Chicago. Principal Investigator: Rima McLeod, MD; Da¬ vid Fisher, MD, Douglas Mack, MS, D. Patel, MD, William Schey, MD, Lazlo Stein, PhD, Shawn Withers, RN. The University of Chicago Pritzker School of Medicine, Chicago. Principal Investigator: Rima McLeod, MD; Physician Coordinator: Daniel Johnson, MD; Jeanne Beckman, PhD, Paul Meier, PhD, Nancy Roizen, MD, Mark Stein, PhD. Rush-Presbyterian-St Luke's Medical Cen¬ ter, Chicago. Coprincipal Investigator: Kenneth Boyer, MD. Children's Memorial Hospital, Northwestern University, Chicago. Marilyn Mets, MD, Charles Swisher, MD. 1. Koskiniemi M, Lappalainen J, Hedman K. Toxoplasmosis needs evaluation: an overview and proposals. AJDC. 1989;143:724-728.
1989;143:325-332.
Renal Anomalies in Familial
Congenital Toxoplasmosis Sir.\p=m-\Thearticle by Koskiniemi et al1 that appeared in the June 1989 issue of AJDC illustrates the great need for controlled data concerning optimal means to diagnose and treat congenital toxoplasmosis. We are conducting a randomized, prospective study to
evaluate treatment and outcome of patients with congenital toxoplasmosis. This national collaborative study is supported by the National Institutes of Allergy and Infectious Diseases, the March of Dimes, and the Food and Drug Administration, Orphan Drugs Division. Patients are stratified based on severity of their disease. They are then randomized to one of three treatment regimens, which include pyrimethamine, sulfonamides, folinic acid, and
spiramycin.
To ensure uniform evaluation, patients are evaluated at the study center in Chicago, Ill, at ages 0 to 2 months and 1, 3.5, 5.5, 8, and 15 years. Evaluation includes assessments of the patient's immunologic response to Toxoplasma gondii and assessments by specialists in pediatric infectious
disease, neurology, ophthalmology, development, neuroradiology, and audiology. Patients under the age of 2 months with congenital toxoplasmosis may be referred to our national collaborative study by calling (312) 791-4152. THE TOXOPLASMOSIS STUDY GROUP 114 Baumgarten Pavilion Michael Reese Medical Center 31st Street and South Lake Shore Drive Chicago, IL 60616
Polythelia Sir.\p=m-\Bortzet al1 described
an
Ameri-
family of four (mother, father, and two sons) with supernumerary nipples can
but without associated renal anomalies. They commented that familial
polythelia as a single congenital anomaly is not associated with renal anom-
alies. Bortz et al also referred to three previously reported cases of families with familial polythelia. Two families were presented by Hersh et al2 and the third family by Klinkerfuss.3 The two families described by Hersh et al both had significant associated renal anomalies. In one family the mother had a renal cyst and her daughter had a multicystic kidney. In the second family the father had hydronephrosis and his son had a small but normally
functioning kidney. We
are aware
of several other
ex-
amples of the familial occurrence of polythelia. Birkenfeld4 reported the occurrence of polythelia in twins. Marie5 described a family with 20 members in four generations who had supernumerary nipples. Graham\x=req-\ Campbell6 described a mother with 10 supernumerary nipples who had a child with one supernumerary nipple. Weinberg and Motulsky7 described a family of six female adults from two generations who had bilateral super¬ numerary axillary breasts without nipples or areolae. Rintala and Norio8 reported a dysplastic divided nipple (intra-areola polythelia) bilaterally in a mother, her two daughters, and her son. One of the daughters had a total duplication of the right renal pelvis and ureter. Other affected family members were not investigated for
Downloaded From: http://archpedi.jamanetwork.com/ by a Monash University Library User on 06/19/2015
