Letters to the Editor Horseshoe kidney with multicystic dysplastic left moiety Sir A most common renal fusion anomaly seen in children is horseshoe kidney (HSK). Association with other congenital anomalies in HSK are well documented in literature; however, only a few cases of HSK with multicystic dysplastic kidney (MCDK) are reported till date. Our case was a three-month-old male child referred to our institute with an antenatally diagnosed case of HSK. The perinatal period was uneventful. Parents complained of lower abdominal fullness after birth with no urinary symptoms. Computed tomography (CT) scan of the abdomen performed in the institute, from where the patient was referred at two months of age, suggested HSK with left moiety MCDK [Figure 1]. Ultrasonography (USG) of the abdomen performed in our institute also had similar findings with normal contralateral kidney, bladder, and ureter. As the patient had normal blood pressure and no features of urinary tract infection, no further investigation was done during follow-up. During the last follow-up at six months of age, the patient was asymptomatic. The reported incidence of HSK is 1 in 400 live births and is more common in males.[1] There is frequent association of other anomalies in children with HSK, especially when discovered in the neonatal period. Boatman et al reported that one-third of patients with HSK had at least one or the other abnormality.[2] Multicystic dysplasia is the most common type of renal cystic disease and one of the most common causes of an abdominal mass in infants. Most cases are
asymptomatic and discovered on prenatal sonography. Although USG can diagnose the presence of MCDK in one half of HSK, the investigation is operator dependant and subtle clues such as malrotation of the contralateral segment may be missed.[3] A dimercaptosuccinic acid (DMSA) scan reveals absence of function in the affected segment, but it may or may not indicate the presence of an HSK. The possibility of MCDK in an HSK may be suggested by the presence of a palpable mass close to the midline, a USG report suggesting abnormal rotation and fusion along the lower renal poles, or a DMSA scan indicating polar fusion. The condition can be confirmed using a cross-sectional imaging study such as CT or magnetic resonance imaging (MRI), which also provides information on the degree of involvement of the isthmus and contralateral kidney.[3] The most commonly associated anomaly with MCDK are contralateral ureteropelvic junction obstruction and contralateral vesicoureteric reflux. HSK is infrequently associated with MCDK. In a 1994 review, only 18 such cases had been recorded.[4] Inadvertent damage to the contralateral normal pelvis and renal vasculature resulting from the inability to achieve a wider view of the unexpected operative findings has been reported in HSK with MCDK.[3] Due to proximity of the vessels of the normal segment and possibility of damage to the great vessels, small MCDKs in HSK may be left alone and managed conservatively.[5] As more information on this rare combination becomes available, expectant management, as in case of unilateral MCDK, should become the norm; moreover, surgery is indicated in the presence of recurrent infections, pain, or a palpable mass.
Shasanka Shekhar Panda, Amit Singh, Minu Bajpai, Manisha Jana1 Departments of Pediatric Surgery and 1Radiodiagnosis, All India Institute of Medical Sciences (AIIMS), New Delhi, India Address for correspondence: Dr. Minu Bajpai, Department of Pediatric Surgery, All India Institute of Medical Sciences (AIIMS), New Delhi - 110 029, India. E-mail: [email protected]
a
REFERENCES
b
Figure 1: Horseshoe kidney with multicystic dysplastic left moiety. (a) Non-contrast — enhanced CT showing left renal moiety replaced by multiple cysts (arrows) with normal isthmus (asterix) and almost complete absence of overlying cortex. (b) Contrast-enhanced CT image showing multiple non-enhancing cysts (arrows) with normal enhancing isthmus (asterix) and right moiety 118
1. Weizer AZ, Silverstein AD, Auge BK, Delvecchio FC, Raj G, Albala DM, et al. Determining the incidence of horseshoe kidney from radiograph data at a single institution. J Urol 2003;170:1722-6. 2. Boatman DL, Kolln CP, Flocks RH. Congenital anomalies associated with horseshoe kidney. J Urol 1972;107:205-7.
Journal of Indian Association of Pediatric Surgeons / Apr-Jun 2014 / Vol 19 / Issue 2
Letters to the Editor 3. Chattopadhyay A, Mukhopadhyay B, Mitra SK. Lumbotomy for multicystic dysplastic kidney: A trap for the unwary. J Indian Assoc Pediatr Surg 2010;15:145-7. 4. Borer JG, Glassberg KI, Kassner EG, Schulsinger DA, Moopan UM. Unilateral multicystic dysplasia in 1 component of a horseshoe kidney: Case reports and review of the literature. J Urol 1994;152:1568-71. 5. Sripathi V. Multicystic dysplasia in one half of a horseshoe kidney with megaureter and lower ureteric atresia. Pediatr Surg Int 2002;18:735-6. Access this article online Website: www.jiaps.com
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DOI: 10.4103/0971-9261.129612 DOI
Cat eye syndrome, anorectal malformation, and Hirschsprung’s disease Sir, The estimated incidence of anorectal malformation (ARM) associated with Hirschsprung’s disease (HD) is 2.3%-3.4%, about 1/147,000 live births.[1-3] Furthermore, occurrence of HD and ARM in a patient with cat eye syndrome (CES) is very rare, with only three cases reported in available English literature.[1,4,5] This female newborn with a normal vaginal delivery, full term, and birth weight was 2.100 kg, with the following abnormalities: imperforate anus (with anovestibular fistula), left ptosis, bilateral iris coloboma, and skin tags in right preauricular area and cheeks. At age of 20 days, a sigmoid colostomy was performed, and later at the age of two months she underwent posterior sagittal anorectoplasty (PSARP). Because of health insurance issues, closure of the colostomy was not done until the age of 18 months. During this period, she had problems with passing stools, she was constipated, and required frequent saline enemas (2-3/day), and she thrived poorly. All of the fore mentioned was blamed on the colostomy construction and frequent dilatations were performed. Following closure of colostomy, she experienced multiple episodes of severe constipation requiring hospital admission to manage it. At that time, the presence of HD was suspected, so a contrast study was preformed showing significant dilation of small and large intestine. This was differentiated from stricture at the site of closure of colostomy, a rectal biopsy was planned. Unfortunately, the patient was admitted with severe sepsis associated with intestinal obstruction,
toxic megacolon for which an emergency laparotomy was undertaken when an obvious transition zone was seen in the terminal ileum [Figure 1]. Both ileostomy as well as colostomy at the site of previous anastomosis were created, as well as multiple small and large bowel biopsies were taken. The patient was admitted to the intensive care unit because of hypothermia and hypotension that attributed to septic shock, and she died on the 2nd day after operation despite maximal resuscitation efforts. The biopsy showed absence of ganglion cells in all biopsies taken till 15 cm proximal to the ileocecal valve. ARM is a wide spectrum disease, ranging from simple malformations with good prognosis, to very complicated ones, associated with multiple anomalies of different systems. ARM represents one of the major features of CES, observed in about 83% of cases.[6] HD tends to be either an isolated entity, or it may occur as part of syndromes in 30% of HD cases. Regarding its occurrence with ARM, Watanatittan et al.,[3] reported nine cases of HD associated with ARM, representing 2.8% of 321 HD cases. In regards to the association between CES, ARM and HD, only three case have been reported in the literature, two cases were associated with long segment HD[1,5] and the third one associated with short segment HD[4] [Table 1]. This makes our case the fourth one. This association opens the discussion regarding the possible presence of gene at the chromosomal region 22q11.2, responsible for the enteric system development, the same chromosomal region which its abnormalities can cause CES.[4] This case emphasizes the awareness of suspecting the presence of HD in a patient with managed ARM,
Figure 1: Transitional zone in the terminal ileum
Journal of Indian Association of Pediatric Surgeons / Apr-Jun 2014 / Vol 19 / Issue 2
119
Copyright of Journal of Indian Association of Pediatric Surgeons is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
asymptomatic and discovered on prenatal sonography. Although USG can diagnose the presence of MCDK in one half of HSK, the investigation is operator dependant and subtle clues such as malrotation of the contralateral segment may be missed.[3] A dimercaptosuccinic acid (DMSA) scan reveals absence of function in the affected segment, but it may or may not indicate the presence of an HSK. The possibility of MCDK in an HSK may be suggested by the presence of a palpable mass close to the midline, a USG report suggesting abnormal rotation and fusion along the lower renal poles, or a DMSA scan indicating polar fusion. The condition can be confirmed using a cross-sectional imaging study such as CT or magnetic resonance imaging (MRI), which also provides information on the degree of involvement of the isthmus and contralateral kidney.[3] The most commonly associated anomaly with MCDK are contralateral ureteropelvic junction obstruction and contralateral vesicoureteric reflux. HSK is infrequently associated with MCDK. In a 1994 review, only 18 such cases had been recorded.[4] Inadvertent damage to the contralateral normal pelvis and renal vasculature resulting from the inability to achieve a wider view of the unexpected operative findings has been reported in HSK with MCDK.[3] Due to proximity of the vessels of the normal segment and possibility of damage to the great vessels, small MCDKs in HSK may be left alone and managed conservatively.[5] As more information on this rare combination becomes available, expectant management, as in case of unilateral MCDK, should become the norm; moreover, surgery is indicated in the presence of recurrent infections, pain, or a palpable mass.
Shasanka Shekhar Panda, Amit Singh, Minu Bajpai, Manisha Jana1 Departments of Pediatric Surgery and 1Radiodiagnosis, All India Institute of Medical Sciences (AIIMS), New Delhi, India Address for correspondence: Dr. Minu Bajpai, Department of Pediatric Surgery, All India Institute of Medical Sciences (AIIMS), New Delhi - 110 029, India. E-mail: [email protected]
a
REFERENCES
b
Figure 1: Horseshoe kidney with multicystic dysplastic left moiety. (a) Non-contrast — enhanced CT showing left renal moiety replaced by multiple cysts (arrows) with normal isthmus (asterix) and almost complete absence of overlying cortex. (b) Contrast-enhanced CT image showing multiple non-enhancing cysts (arrows) with normal enhancing isthmus (asterix) and right moiety 118
1. Weizer AZ, Silverstein AD, Auge BK, Delvecchio FC, Raj G, Albala DM, et al. Determining the incidence of horseshoe kidney from radiograph data at a single institution. J Urol 2003;170:1722-6. 2. Boatman DL, Kolln CP, Flocks RH. Congenital anomalies associated with horseshoe kidney. J Urol 1972;107:205-7.
Journal of Indian Association of Pediatric Surgeons / Apr-Jun 2014 / Vol 19 / Issue 2
Letters to the Editor 3. Chattopadhyay A, Mukhopadhyay B, Mitra SK. Lumbotomy for multicystic dysplastic kidney: A trap for the unwary. J Indian Assoc Pediatr Surg 2010;15:145-7. 4. Borer JG, Glassberg KI, Kassner EG, Schulsinger DA, Moopan UM. Unilateral multicystic dysplasia in 1 component of a horseshoe kidney: Case reports and review of the literature. J Urol 1994;152:1568-71. 5. Sripathi V. Multicystic dysplasia in one half of a horseshoe kidney with megaureter and lower ureteric atresia. Pediatr Surg Int 2002;18:735-6. Access this article online Website: www.jiaps.com
Quick Response Code: Code
DOI: 10.4103/0971-9261.129612 DOI
Cat eye syndrome, anorectal malformation, and Hirschsprung’s disease Sir, The estimated incidence of anorectal malformation (ARM) associated with Hirschsprung’s disease (HD) is 2.3%-3.4%, about 1/147,000 live births.[1-3] Furthermore, occurrence of HD and ARM in a patient with cat eye syndrome (CES) is very rare, with only three cases reported in available English literature.[1,4,5] This female newborn with a normal vaginal delivery, full term, and birth weight was 2.100 kg, with the following abnormalities: imperforate anus (with anovestibular fistula), left ptosis, bilateral iris coloboma, and skin tags in right preauricular area and cheeks. At age of 20 days, a sigmoid colostomy was performed, and later at the age of two months she underwent posterior sagittal anorectoplasty (PSARP). Because of health insurance issues, closure of the colostomy was not done until the age of 18 months. During this period, she had problems with passing stools, she was constipated, and required frequent saline enemas (2-3/day), and she thrived poorly. All of the fore mentioned was blamed on the colostomy construction and frequent dilatations were performed. Following closure of colostomy, she experienced multiple episodes of severe constipation requiring hospital admission to manage it. At that time, the presence of HD was suspected, so a contrast study was preformed showing significant dilation of small and large intestine. This was differentiated from stricture at the site of closure of colostomy, a rectal biopsy was planned. Unfortunately, the patient was admitted with severe sepsis associated with intestinal obstruction,
toxic megacolon for which an emergency laparotomy was undertaken when an obvious transition zone was seen in the terminal ileum [Figure 1]. Both ileostomy as well as colostomy at the site of previous anastomosis were created, as well as multiple small and large bowel biopsies were taken. The patient was admitted to the intensive care unit because of hypothermia and hypotension that attributed to septic shock, and she died on the 2nd day after operation despite maximal resuscitation efforts. The biopsy showed absence of ganglion cells in all biopsies taken till 15 cm proximal to the ileocecal valve. ARM is a wide spectrum disease, ranging from simple malformations with good prognosis, to very complicated ones, associated with multiple anomalies of different systems. ARM represents one of the major features of CES, observed in about 83% of cases.[6] HD tends to be either an isolated entity, or it may occur as part of syndromes in 30% of HD cases. Regarding its occurrence with ARM, Watanatittan et al.,[3] reported nine cases of HD associated with ARM, representing 2.8% of 321 HD cases. In regards to the association between CES, ARM and HD, only three case have been reported in the literature, two cases were associated with long segment HD[1,5] and the third one associated with short segment HD[4] [Table 1]. This makes our case the fourth one. This association opens the discussion regarding the possible presence of gene at the chromosomal region 22q11.2, responsible for the enteric system development, the same chromosomal region which its abnormalities can cause CES.[4] This case emphasizes the awareness of suspecting the presence of HD in a patient with managed ARM,
Figure 1: Transitional zone in the terminal ileum
Journal of Indian Association of Pediatric Surgeons / Apr-Jun 2014 / Vol 19 / Issue 2
119
Copyright of Journal of Indian Association of Pediatric Surgeons is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
