S132 • PERINATOLOGY • Vol 22 • No. 3 • Supplement 1 Case Report Patau Syndrome With Idiopathic Cholestatic Jaundice Sunil Gothwal*, Sneha Dhruw, Manisha Goyal, Ashok Gupta *Correspondence Dr Sunil Gothwal Assistant Professor Department of Pediatrics Sawai Man Singh Medical College and Sir Padampat Institute of Neonatal and Pediatric Health Jaipur 302017, Rajasthan India E-mail: [email protected] Abstract Trisomy 13 is also called Patau syndrome. The characteristic features of Patau syndrome include anomalies of the cranio- facial structures, extremities, heart, and brain. The features of Patau syndrome and their severity vary in each affected individual. In this report, we discuss a case of a neonate affected with trisomy 13 along with idiopathic cholestatic jaundice. Occurrence of idiopathic cholestatic jaundice along with trisomy 13 is a rare condition. Key Words: Patau syndrome, idiopathic cholestatic jaundice, trisomy 13, craniofacial anomalies, polydactyly, microphthal- mia, cleft palate Introduction In 1960, Patau and his colleagues described trisomy 13 as the cause of a distinct clinical condition, which is referred to as Patau syndrome. Trisomy 13 is the third most common viable trisomy after trisomy 21 and 18. In Patau syndrome, each cell in the body has extra genetic material at chromosome 13, which disrupts nor- mal development and results in deformities of various organs. e incidence of Patau syndrome is about 1 in 5000 to 20,000 live births. 1 e classic trisomy 47, XX +13 is the most common genetic variability in Patau syndrome. Neonates with Patau syndrome develop anomalies pertaining to various organ systems such as the cardiac system (80%), nervous system (75%), and urogenital system. ey also have cleft lip, cleft palate, and limb deformities (70%).
Patau Syndrome With Idiopathic Cholestatic Jaundice
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Case Report
Patau Syndrome With Idiopathic Cholestatic Jaundice Sunil Gothwal*, Sneha Dhruw, Manisha Goyal, Ashok Gupta
*Correspondence
Dr Sunil Gothwal Assistant Professor Department of Pediatrics Sawai Man Singh Medical College and Sir Padampat Institute of Neonatal and Pediatric Health Jaipur 302017, Rajasthan India
E-mail: [email protected]
Abstract Trisomy 13 is also called Patau syndrome. The characteristic features of Patau syndrome include anomalies of the cranio- facial structures, extremities, heart, and brain. The features of Patau syndrome and their severity vary in each affected individual.
In this report, we discuss a case of a neonate affected with trisomy 13 along with idiopathic cholestatic jaundice. Occurrence of idiopathic cholestatic jaundice along with trisomy 13 is a rare condition.
Key Words: Patau syndrome, idiopathic cholestatic jaundice, trisomy 13, craniofacial anomalies, polydactyly, microphthal- mia, cleft palate
Introduction In 1960, Patau and his colleagues described trisomy 13 as the cause of a distinct clinical condition, which is referred to as Patau syndrome. Trisomy 13 is the third most common viable trisomy after trisomy 21 and 18. In Patau syndrome, each cell in the body has extra genetic material at chromosome 13, which disrupts nor- mal development and results in deformities of various
organs. The incidence of Patau syndrome is about 1 in 5000 to 20,000 live births.1 The classic trisomy 47, XX +13 is the most common genetic variability in Patau syndrome. Neonates with Patau syndrome develop anomalies pertaining to various organ systems such as the cardiac system (80%), nervous system (75%), and urogenital system. They also have cleft lip, cleft palate, and limb deformities (70%).
PERINATOLOGY • Vol 22 • No. 3• Supplement 1 • S133
Gothwal S, et al. Patau Syndrome With Idiopathic Cholestatic Jaundice
Case Report
In this report, we present a case of a female neonate with trisomy 13 with idiopathic cholestatic jaundice.
Case Description A full-term female neonate with severe respiratory dis- tress requiring ventilator support was referred to Sawai Man Singh Medical College and Sir Padampat Institute of Neonatal and Pediatric Health (Jaipur, Rajasthan, India). She was the firstborn of a nonconsanguineous marriage. The neonate cried immediately after birth but developed respiratory distress soon after birth. Anthropometric examination showed the birth weight of the neonate to be 2.5 kg, the body length as 48 cm, and head circumference as 32 cm. The facial features showed biparietal prominence, scanty eyebrows, short neck, depressed nasal bridge, broad nose with a bulbous tip, bilateral low-set ears, smooth philtrum, and thin lips (Figure 1). Oral examination revealed a cleft palate. Furthermore, bilateral postaxial polydactyly of the hands and feet was noted (Figure 2). Systemic examination revealed a systolic murmur grade 3/6. Echocardiography confirmed an atrial septal defect with patent ductus arte- riosus. Ultrasonography of the head and the abdomen was normal. The neonate was given respiratory support with mechanical ventilation, followed by oxygen through hood. The neonate was extubated and was discharged once she was stable. However, in the second week of life, the neonate developed icterus and passed dark urine and pale stools intermittently. The neonate did not have diarrhea or vomiting. There was no family history of liver diseases and no history of parenteral nutrition dur- ing the neonate’s early life. The neonate’s direct biliru- bin level was significantly high, while liver enzyme levels were mildly elevated. Causes for conjugated hyperbiliru- binemia were evaluated. As sepsis screen and blood cul- ture were sterile, sepsis was ruled out. Metabolic screen, TORCH screen, and thyroid profile were negative. An abdominal ultrasound was done to identify obstructive causes, and the result was found to be normal. After rul- ing out other causes of neonatal hyperbilirubinemia, the neonate was treated for idiopathic neonatal hepatitis. In view of craniofacial, digital, and cardiac anomalies, tri- somy 13 was suspected, and the neonate’s blood sample was sent for chromosomal analysis. The chromosomal
Figure 1. The Neonate With Periorbital Puffiness, Bulbous Nose, Thin Lips, and Short Neck
Figure 2. Bilateral Postaxial Polydactyly of the Hands and Feet
analysis results suggested an abnormal female karyotype with a trisomy in chromosomes 13(46, XX, der(13;13) (q10;10)), +13. Parental karyotype was advised, but the parents refused further testing.
Discussion The survival rate of neonates affected with Patau syn- drome is low because of severe malformations. Patau syndrome can affect any kind of population and both sexes. Trisomy 13 is the most frequently found genetic variant, and 1 in 12,000 neonates are affected. Neonates with trisomy 13 have an extra chromosome 13 in all body cells.2 Mixed variant cases of Patau syn- drome have some cells with normal chromosomes and remaining cells with an extra copy of chromo- some 13.2 The third variant exhibits Robertsonian translocation.2
Patau syndrome is characterized by a triad of signs: polydactyly, microphthalmia, and cleft palate.3
S134 • PERINATOLOGY • Vol 22 • No. 3 • Supplement 1
Other common clinical features are holoprosenceph- aly, anophthalmia, microcephaly, psychomotor retarda- tion, patent ductus arteriosus, septal defects, polycystic kidneys, and undescended testes. Most of the neonates with trisomy 13 exhibit cleft palate and polydactyly of the limbs. Postaxial polydactyly is the most common limb anomaly, while thumb hypoplasia, oligodactyly, and split-hand malformation have also been reported.4
The neonate was a clear case of karyotype-proven Patau syndrome with classical physical findings. In addition, neonatal cholestasis was diagnosed. Common causes of cholestasis in a neonate could be infections (eg, congen- ital infections [TORCH] and septicemia), obstruction of bile flow, impairment of hepatic excretory function and bile secretion, and genetic factors. Although the neonate was thoroughly evaluated, the etiology of this condition could not be established. Hence, we labeled it as idiopathic neonatal hepatitis. This occurs in either a sporadic or a familial form. Till date, no cases of tri- somy 13 along with cholestatic jaundice have been reported. The mechanism of development of chole- static jaundice along with Patau syndrome remains unexplained.
Based on the clinical features, other possible diagno- ses could be holoprosencephaly-polydactyly syndrome (pseudotrisomy 13), Smith–Lemli–Opitz syndrome (deficiency of 7-dehydrocholesterol reductase), and short rib polydactyly syndrome. These syndromes also share common features with Patau syndrome; however, cytogenetic markers help differentiate between them. There is no specific treatment other than supportive care for Patau syndrome. Abnormalities can be cor- rected surgically. Parental counseling is also needed to care for the neonate after the surgery.
In case of unbalanced chromosome translocation, chro- mosome analysis should be done in both parents. Doing chromosome analysis is crucial because women with a history of giving birth to a neonate with trisomy 13 can pass on the same condition to their neonates in future pregnancies too. However, prenatal tests can help diag- nose the condition in future pregnancies.
In neonates with Patau syndrome, the median sur- vival age is 2.5 days. Only a small number of patients make it till puberty. Nevertheless, 28% of the neonates with Patau syndrome die within 7 days of life, 44% die within 30 days, and 86% within a year. The causes of death include cardiopulmonary failure (69%), congeni- tal heart defects (13%), and pneumonia (4%).5
Conclusion Trisomy 13 is a chromosomal abnormality with a recog- nizable clinical phenotype. This case report describes an uncommon association of trisomy 13 with idiopathic cholestatic jaundice. More case reports are needed to establish the association evidently.
References 1. Imataka G, et al. Long-term survival of full trisomy 13 in a
14 year old male: a case report. Eur Rev Med Pharmacol Sci. 2016;20(5):919–922.
2. Gorlin RJ, Cohen Jr MM, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. New York: Oxford University Press; 2001.
3. Rios A, et al. Recognizing the clinical features of trisomy 13 syndrome. Adv Neonatal Care. 2004;4(6):332–343.
4. Martinez-Frias ML, et al. Limb deficiencies in infants with trisomy 13. Am J Med Genet. 2000;93(4):339–341.
5. Schinzel A. Catalogue of Unbalance Chromosome Aberration in Man. 2nd ed. Berlin: Walter de Gryter; 2001:505–510.
Gothwal S, et al. Patau Syndrome With Idiopathic Cholestatic Jaundice
Case Report
Authors’ Affiliations
Patau Syndrome With Idiopathic Cholestatic Jaundice Sunil Gothwal*, Sneha Dhruw, Manisha Goyal, Ashok Gupta
*Correspondence
Dr Sunil Gothwal Assistant Professor Department of Pediatrics Sawai Man Singh Medical College and Sir Padampat Institute of Neonatal and Pediatric Health Jaipur 302017, Rajasthan India
E-mail: [email protected]
Abstract Trisomy 13 is also called Patau syndrome. The characteristic features of Patau syndrome include anomalies of the cranio- facial structures, extremities, heart, and brain. The features of Patau syndrome and their severity vary in each affected individual.
In this report, we discuss a case of a neonate affected with trisomy 13 along with idiopathic cholestatic jaundice. Occurrence of idiopathic cholestatic jaundice along with trisomy 13 is a rare condition.
Key Words: Patau syndrome, idiopathic cholestatic jaundice, trisomy 13, craniofacial anomalies, polydactyly, microphthal- mia, cleft palate
Introduction In 1960, Patau and his colleagues described trisomy 13 as the cause of a distinct clinical condition, which is referred to as Patau syndrome. Trisomy 13 is the third most common viable trisomy after trisomy 21 and 18. In Patau syndrome, each cell in the body has extra genetic material at chromosome 13, which disrupts nor- mal development and results in deformities of various
organs. The incidence of Patau syndrome is about 1 in 5000 to 20,000 live births.1 The classic trisomy 47, XX +13 is the most common genetic variability in Patau syndrome. Neonates with Patau syndrome develop anomalies pertaining to various organ systems such as the cardiac system (80%), nervous system (75%), and urogenital system. They also have cleft lip, cleft palate, and limb deformities (70%).
PERINATOLOGY • Vol 22 • No. 3• Supplement 1 • S133
Gothwal S, et al. Patau Syndrome With Idiopathic Cholestatic Jaundice
Case Report
In this report, we present a case of a female neonate with trisomy 13 with idiopathic cholestatic jaundice.
Case Description A full-term female neonate with severe respiratory dis- tress requiring ventilator support was referred to Sawai Man Singh Medical College and Sir Padampat Institute of Neonatal and Pediatric Health (Jaipur, Rajasthan, India). She was the firstborn of a nonconsanguineous marriage. The neonate cried immediately after birth but developed respiratory distress soon after birth. Anthropometric examination showed the birth weight of the neonate to be 2.5 kg, the body length as 48 cm, and head circumference as 32 cm. The facial features showed biparietal prominence, scanty eyebrows, short neck, depressed nasal bridge, broad nose with a bulbous tip, bilateral low-set ears, smooth philtrum, and thin lips (Figure 1). Oral examination revealed a cleft palate. Furthermore, bilateral postaxial polydactyly of the hands and feet was noted (Figure 2). Systemic examination revealed a systolic murmur grade 3/6. Echocardiography confirmed an atrial septal defect with patent ductus arte- riosus. Ultrasonography of the head and the abdomen was normal. The neonate was given respiratory support with mechanical ventilation, followed by oxygen through hood. The neonate was extubated and was discharged once she was stable. However, in the second week of life, the neonate developed icterus and passed dark urine and pale stools intermittently. The neonate did not have diarrhea or vomiting. There was no family history of liver diseases and no history of parenteral nutrition dur- ing the neonate’s early life. The neonate’s direct biliru- bin level was significantly high, while liver enzyme levels were mildly elevated. Causes for conjugated hyperbiliru- binemia were evaluated. As sepsis screen and blood cul- ture were sterile, sepsis was ruled out. Metabolic screen, TORCH screen, and thyroid profile were negative. An abdominal ultrasound was done to identify obstructive causes, and the result was found to be normal. After rul- ing out other causes of neonatal hyperbilirubinemia, the neonate was treated for idiopathic neonatal hepatitis. In view of craniofacial, digital, and cardiac anomalies, tri- somy 13 was suspected, and the neonate’s blood sample was sent for chromosomal analysis. The chromosomal
Figure 1. The Neonate With Periorbital Puffiness, Bulbous Nose, Thin Lips, and Short Neck
Figure 2. Bilateral Postaxial Polydactyly of the Hands and Feet
analysis results suggested an abnormal female karyotype with a trisomy in chromosomes 13(46, XX, der(13;13) (q10;10)), +13. Parental karyotype was advised, but the parents refused further testing.
Discussion The survival rate of neonates affected with Patau syn- drome is low because of severe malformations. Patau syndrome can affect any kind of population and both sexes. Trisomy 13 is the most frequently found genetic variant, and 1 in 12,000 neonates are affected. Neonates with trisomy 13 have an extra chromosome 13 in all body cells.2 Mixed variant cases of Patau syn- drome have some cells with normal chromosomes and remaining cells with an extra copy of chromo- some 13.2 The third variant exhibits Robertsonian translocation.2
Patau syndrome is characterized by a triad of signs: polydactyly, microphthalmia, and cleft palate.3
S134 • PERINATOLOGY • Vol 22 • No. 3 • Supplement 1
Other common clinical features are holoprosenceph- aly, anophthalmia, microcephaly, psychomotor retarda- tion, patent ductus arteriosus, septal defects, polycystic kidneys, and undescended testes. Most of the neonates with trisomy 13 exhibit cleft palate and polydactyly of the limbs. Postaxial polydactyly is the most common limb anomaly, while thumb hypoplasia, oligodactyly, and split-hand malformation have also been reported.4
The neonate was a clear case of karyotype-proven Patau syndrome with classical physical findings. In addition, neonatal cholestasis was diagnosed. Common causes of cholestasis in a neonate could be infections (eg, congen- ital infections [TORCH] and septicemia), obstruction of bile flow, impairment of hepatic excretory function and bile secretion, and genetic factors. Although the neonate was thoroughly evaluated, the etiology of this condition could not be established. Hence, we labeled it as idiopathic neonatal hepatitis. This occurs in either a sporadic or a familial form. Till date, no cases of tri- somy 13 along with cholestatic jaundice have been reported. The mechanism of development of chole- static jaundice along with Patau syndrome remains unexplained.
Based on the clinical features, other possible diagno- ses could be holoprosencephaly-polydactyly syndrome (pseudotrisomy 13), Smith–Lemli–Opitz syndrome (deficiency of 7-dehydrocholesterol reductase), and short rib polydactyly syndrome. These syndromes also share common features with Patau syndrome; however, cytogenetic markers help differentiate between them. There is no specific treatment other than supportive care for Patau syndrome. Abnormalities can be cor- rected surgically. Parental counseling is also needed to care for the neonate after the surgery.
In case of unbalanced chromosome translocation, chro- mosome analysis should be done in both parents. Doing chromosome analysis is crucial because women with a history of giving birth to a neonate with trisomy 13 can pass on the same condition to their neonates in future pregnancies too. However, prenatal tests can help diag- nose the condition in future pregnancies.
In neonates with Patau syndrome, the median sur- vival age is 2.5 days. Only a small number of patients make it till puberty. Nevertheless, 28% of the neonates with Patau syndrome die within 7 days of life, 44% die within 30 days, and 86% within a year. The causes of death include cardiopulmonary failure (69%), congeni- tal heart defects (13%), and pneumonia (4%).5
Conclusion Trisomy 13 is a chromosomal abnormality with a recog- nizable clinical phenotype. This case report describes an uncommon association of trisomy 13 with idiopathic cholestatic jaundice. More case reports are needed to establish the association evidently.
References 1. Imataka G, et al. Long-term survival of full trisomy 13 in a
14 year old male: a case report. Eur Rev Med Pharmacol Sci. 2016;20(5):919–922.
2. Gorlin RJ, Cohen Jr MM, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. New York: Oxford University Press; 2001.
3. Rios A, et al. Recognizing the clinical features of trisomy 13 syndrome. Adv Neonatal Care. 2004;4(6):332–343.
4. Martinez-Frias ML, et al. Limb deficiencies in infants with trisomy 13. Am J Med Genet. 2000;93(4):339–341.
5. Schinzel A. Catalogue of Unbalance Chromosome Aberration in Man. 2nd ed. Berlin: Walter de Gryter; 2001:505–510.
Gothwal S, et al. Patau Syndrome With Idiopathic Cholestatic Jaundice
Case Report
Authors’ Affiliations
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