Sirenomelia (Mermaid Syndrome)

Objective: To report a rare fetal abnormalities case Method: Case report Case: Reported case of a 37-year-old patient came to the emergency room at RSIA Siti Hawa Padang with complaints of inpartu signs in the last 8 hours before entering the hospital. After the examination, the diagnosis was G3P2A0L3 35-36 weeks of preterm parturient active phase of first stage + twice previous CS + breech presentation. Then, the patient was planned for an emergency CS at 07.50 am. Born babies with genitalia form was not identified, BW: 2030 grams, BH: 30 cm, Scoring Apgar: 3/5, there are congenital abnormalities in the lower extremity of the baby like mermaid form. After observing the baby’s room, the baby was declared dead at 09.50 am. Conclusion: Sirenomelia is a rare congenital defect that has a fatal impact, characterized by varying degrees of fusion in the lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. Because of the poor prognosis, management of sirenomelia will be very difficult with unexpected results. Key words : Fetal abnormalities, Sirenomelia, Mermaid syndrome.

Antenatal diagnosis of microvillus inclusion disease

Microvillus inclusion disease is a rare autosomal recessive disorder due to defective apical surface of the enterocytes presenting with severe watery diarrhea starting at birth. We describe a female infant who had antenatal diagnosis of microvillus inclusion disease. At 36th gestational week of a 32-year-old woman ultrasound examination revealed dilatation of fetal sigmoid colon. The amniotic fluid level was normal. An amniocentesis was performed to rule out congenital sodium and chloride diarrhea in the prenatal period. The patient didn't prefer to undergo genetic tests. In conclusion, prenatal ultrasonographic identification of dilated bowel loops without polyhydramnios suggests differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea, jejunoileal atresia, volvulus, meconium ileus, Hirschsprung disease, enteric duplications, anorectal atresia.

Rare case report of mermaid baby: sirenomelia

Sirenomelia or mermaid baby is a rare and fatal congenital anomaly. It is characterized by varying degrees of fusion of lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary malformations, lower gastrointestinal tracts anomalies (e.g. renal agenesis, absent bladder, anorectal atresia) and absent internal genitalia. Most of the cases are associated with Potter’s facies and pulmonary hypoplasia. The incidence of the disease was 0.8-1 case/1,00,000 births and male to female ratio being 3:1. We reported a case of 19 years old primi at 35 weeks 3 days of gestation with history of tobacco intake during pregnancy who delivered a 1.24 kg baby with single fused lower limbs with a rudimentary tail and multiple congenital anomalies .There was also evidence of Potter’s facies .The baby died within 20 mins after birth. Sirenomelia is a rare but lethal congenital anomaly. Prevention is possible and when diagnosed antenatally, termination should be offered.

Staged surgical management of anorectal atresia associated with type II colon atresia and urinary system anomalies in a newborn boy (case report and literature review)

Anorectal malformation is a congenital anomaly and can be either isolated or associated. This malformation is often combined with other congenital defects, in particular VACTERL-association (anomalies of the spine, anal region, heart, trachea, esophagus, kidneys and extremities), which requires a comprehensive diagnosis in these patients. Congenital malformations of the gastrointestinal tract except for esophageal atresia are rare. The paper presents a clinical case of associated congenital anomalies of the gastrointestinal tract and urinary system in a newborn boy: congenital anorectal malformation without fistula, type II sigmoid atresia with bowel malrotation, vesicoureteral reflux, right-sided pyelectasia and coronal hypospadias. Comprehensive diagnostics before each stage of surgical treatment made it possible to determine the method and technique of surgical correction. This made it possible to preserve a part of the intestine which was presented in the form of an enterocyst to create a neorectum as well as to diagnose the functional incompetence of the preatritic segment of the colon and carry out its removal. Atresia of the sigmoid colon is not a common concomitant malformation in congenital anorectal malformation, but it should be taken into account in the differential diagnosis in newborns with progressive abdominal distension and anorectal atresia without fistula. The proposed staging of the surgical management of these associated malformations should be regarded as organ-preserving, allowing to restore the normal function of the gastrointestinal tract and urinary system, with a good functional result. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. The authors declare no conflicts of interests. Key words: anorectal atresia without fistula, sigmoid atresia, vesicoureteral reflux, coronary hypospadias, surgical management, newborn boy.

Paediatric gastrointestinal care

The paediatric gastrointestinal care chapter explores problems with the gastrointestinal tract with a focus on paediatric care. Commonly seen conditions in babies and children are described with the more frequently presenting symptoms listed for the nurse. The occurrence rates of these paediatric conditions are defined and any potential causes described. The investigations that are used to diagnose the condition are explored. Treatment options are also explored with a description of any potential complications. Issues include congenital anomalies, such as imperforate anus, also termed anorectal atresia, when a baby is born without a formed anus. Other gastrointestinal diseases that can affect children include duplication cysts, Hirschsprung’s disease, malrotation, and volvulus. Developmental issues, such as childhood toilet training, are also explored within this chapter. Succinct explorations on the issues related to children and infants can be undertaken within clinical practice by the nurse.

Anus perinei ventralis in adulthood – case report

Anorectal malformations present a type of the most serious congenital malformations, either in terms of treatment or treatment outcomes. Anorectal atresia can be subdivided into three categories: the supralevator form, the intermediate type of atresia and the low translevator type. One of the clinical forms of low translevator type in girls is a perineal fistula opening just behind the vaginal entrance on the perineum, with a fully developed sphincter complex dorsally from the fistula (so called anus perinei ventralis). The golden standard of surgical treatment of anus perinei ventralis in children is Peña’s procedure, which was used as a guideline for anorectal reconstruction in our adult patient, as well.

LIMITATIONS OF CROSS TABLE PRONE LATERAL X-RAY/INVERTOGRAM IN DIAGNOSING OF TYPES OF ANORECTAL MALFORMATIONS

INTRODUCTION Anorectal malformation is the very common congenital malformation with the incidence of 1 in 5000 (1,2). The diagnosis is made on perineal examination which is further corroborated by cross table prone lateral x-ray or invertogram to find out the level of anorectal atresia. The cross table prone lateral x-ray is considered better investigation tool as compared to invertogram for demonstration of the level of rectal atresia in neonates. In prone cross table lateral x-ray, effect of gravity is negated, positioning of the baby is more comfortable and the rectal gas shadow is better delineated. AIM To evaluate the sensitivity and specificity of cross table prone lateral x-ray in labelling a patient of anorectal malformation as high or low. MATERIAL AND METHODS The study was conducted in retrospective manner. Radiological materials, clinical and operative records of the neonates with anorectal malformation operated in Department of Surgery, Pediatric Surgery unit, BRD Medical College over a period of 2 years (June 2017 to July 2019) were retrieved. Total 100 neonates with anorectal malformation were admitted in our hospital during this time frame. Out of these patients, colostomy was done in 79 patients, anoplasty was performed in 18 cases. Two patients underwent primary posterior sagittal anorectoplasty while 1 patient had ileostomy done. During this study, we came across four unusual cases of low anorectal malformation where the x-ray picture did not coincide with the clinical diagnosis. CONCLUSION Diagnosis of anorectal malformation is clinical but to diagnose the type of anorectal malformation it requires both clinical as well as radiological workup. In case of diagnostic dilemma, our clinical interpretation should lead the diagnosis as none of the x-ray modality has 100% sensitivity.

Caudal Regression Syndrome

Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. CRS affects 1–3 newborn infants per 100,000 live births. The prevalence in infants of diabetic mothers is reported at 1 in 350 live births which includes all the variants. A related condition is sirenomelia sequence or mermaid syndrome or symmelia and is characterized by fusion of the legs and a variable combination of the other abnormalities. The Currarino triad is a related anomaly that includes anorectal atresia, coccygeal and partial sacral agenesis, and a pre-sacral lesion such as anterior meningocele, lipoma or dermoid cyst. A multidisciplinary management approach is needed that includes rehabilitative services, and patients need a staged surgical approach.