1.Congenital Bronchoesophageal Fistula with Imperforate Anus and Atrial Septal Defect in a 3-Year-Old Child.
Kyong Bok MIN ; Jong Deok KIM ; Min Jung KIM ; Kyong Won KIM ; Myung Hyun SOHN ; Choon Sik YOON ; Dae Yeon KIM ; Kyu Earn KIM
Pediatric Allergy and Respiratory Disease 2012;22(4):428-432
Congenital bronchoesophageal fistula (BEF), congenital communication between esophagus and bronchus, is a rare malformation. Benign BEF shows only nonspecific symptoms that may delay a correct diagnosis and proper treatment. This is a case of a 3-year-old boy presenting congenital BEF with imperforate anus and atrial septal defect. He had recurrent pneumonia in the right lower lobe since he was 5 months old. A barium swallow examination showed a communicating fistula between the lower esophagus and the right lower lobe bronchus. Computed tomography scan supported to delineate the course of the fistula. He underwent resection surgery of the fistula and lobectomy of the right lower lobe. He recovered without any postoperative complications.
Anus, Imperforate
;
Barium
;
Bronchi
;
Child
;
Esophagus
;
Fistula
;
Heart Septal Defects, Atrial
;
Humans
;
Pneumonia
;
Postoperative Complications
2.A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition.
Jae Lim CHUNG ; Jong Rak CHOI ; Min Soo PARK ; Seung Hun CHOI
Yonsei Medical Journal 2001;42(5):558-562
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.
Abnormalities, Multiple/*genetics
;
Anus, Imperforate/*complications
;
Case Report
;
Chromosomes, Human, Pair 13/*genetics
;
Fatal Outcome
;
*Gene Deletion
;
Human
;
Infant, Newborn
;
Male
;
Penis/*abnormalities
;
Scrotum/*abnormalities
3.Clinical application of magnetic resonance imaging in congenital anorectal malformation.
Fubin YANG ; Mao SHENG ; Jian WANG ; Wanliang GUO ; Qi WANG ; Xiao HAN
Chinese Journal of Pediatrics 2014;52(1):41-45
OBJECTIVETo investigate the clinical value of MRI examination in congenital anorectal malformation (CARM).
METHODForty-four cases with operatively proved anorectal malformation from May 2008 to May 2012 in the authors' hospital were reviewed. Of the 44 cases, 25 were males and 19 females, their age ranged from 1 day to 2 years. MRI was performed in all patients.
RESULTOf all 44 cases, 15 cases had high imperforate anus (34%), rectum blind end were above PC line, the distance of rectum blind end and anus nest was (29.12 ± 2.35) mm; 8 cases had median imperforate anus (18%), rectum blind ends were near PC line, the distance of rectum blind end and anus nest was (18.98 ± 2.21) mm; 21 cases had low imperforate anus (48%), rectum blind ends were below PC line, the distance of rectum blind end and anus nest was (7.54 ± 1.08) mm. Twenty-five cases with fistula in 44 cases were confirmed by rectal angiography and surgery, accounting for 57%. In 13 cases with fistula, the lesion could be clearly demonstrated on MRI, in the remaining 12 cases with fistula, the lesion could not be visualized clearly or no image development occurred on MRI. Of all 44 cases, 1 case had tethered cord with filum terminale lipoma, 1 case had tethered cord, 2 cases had syringomyelia, 1 case had right kidney agenesis, 1 case had hydrocele. In 44 cases of multi-planar MRI imaging could clearly show the perianal muscles developmental situation, 36 cases had perianal muscles dysplasia, amd showed levator ani muscle, puborectalis and anal sphincter asymmetry, muscle belly slim.
CONCLUSIONMRI examination has a high clinical value in CARM diagnosis, can help accurately judge the anal atresia type, display the presence and running of most of the fistula, and diagnose perianal muscle development and other systems malformations, finally provide a reliable diagnostic basis for surgical program and prognostic assessment.
Abnormalities, Multiple ; Anal Canal ; abnormalities ; surgery ; Anus, Imperforate ; complications ; diagnosis ; surgery ; Child, Preschool ; Female ; Fistula ; epidemiology ; etiology ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Perineum ; pathology ; Rectum ; abnormalities ; surgery ; Retrospective Studies ; Urinary Fistula ; epidemiology ; etiology
4.Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge.
Xin Ling TEO ; Kannan Laksmi NARASIMHAN ; Joyce Horng Yiing CHUA
Singapore medical journal 2015;56(5):e82-4
Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis.
Abnormalities, Multiple
;
diagnosis
;
Anal Canal
;
abnormalities
;
surgery
;
Anorectal Malformations
;
Anus, Imperforate
;
complications
;
diagnosis
;
surgery
;
Child
;
Diagnosis, Differential
;
Esophagus
;
abnormalities
;
Female
;
Heart Defects, Congenital
;
complications
;
Humans
;
Infant, Newborn
;
Kidney
;
abnormalities
;
Laparoscopy
;
Limb Deformities, Congenital
;
complications
;
Mullerian Ducts
;
abnormalities
;
Rectal Fistula
;
diagnosis
;
Rectum
;
abnormalities
;
surgery
;
Spine
;
abnormalities
;
Trachea
;
abnormalities
;
Vagina
;
abnormalities