BACKGROUND AND OBJECTIVE

Choledochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital.

Genomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing.

A total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40).

There is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.

Objective: To report the perioperative management and robot-assisted minimally invasive surgery results of one case with malignant tumor of anal canal combined with severe abdominal distention. Methods: A 66-year-old male suffer from adenocarcinoma of anal canal (T3N0M0) with megacolon, megabladder and scoliosis. The extreme distention of the colon and bladder result in severe abdominal distention. The left diaphragm moved up markedly and the heart was moved to the right side of the thoracic cavity. Moreover, there was also anal stenosis with incomplete intestinal obstruction. Preoperative preparation: fluid diet, intravenous nutrition and repeated enema to void feces and gas in the large intestine 1 week before operation. Foley catheter was placed three days before surgery and irrigated with saline. After relief of abdominal distention, robotic-assisted abdominoperineal resection+ subtotal colectomy+colostomy was performed. Results: Water intake within 6 hours post-operatively; ambulance on Day 1; anal passage of gas on Day 2; semi-fluid diet on Day 3; safely discharged on Day 6. Conclusion: Robotic-assisted minimally invasive surgery is safe and feasible for patients with malignant tumor of anal canal combined with severe abdominal distention after appropriate and effective preoperative preparation to relieve abdominal distention.
Male ; Humans ; Aged ; Anal Canal/surgery* ; Colon/surgery* ; Colectomy ; Anus Diseases/surgery* ; Adenocarcinoma/surgery* ; Digestive System Abnormalities/surgery*

Intussusception refers to the invagination (telescoping) of a part of the intestine into itself. Intussusception occurs primarily in infants and toddlers.1 The peak incidence is between 4 and 36 months of age, and it is the most common cause of intestinal obstruction in this age group. 2 Approximately 1 percent of cases are in infants younger than three months, 30 percent between 3 and 12 months, 20 percent between one and two years, 25 percent between two and three years, and 10 percent between three and four years.3 Although intussusception is most common in infants and young children, it is important to consider this diagnosis in children outside this age range. Approximately 10 percent of cases are in children over five years, and 3 to 4 percent in those over 10 years.3,4 We share here images from an actual case of a 15-year-old Filipino male with an ileo-ileal intussusception that is beyond the typical age range, with an incidental finding of an intraluminal mass that was histomorphologically diagnosed as Meckel’s diverticulum (MD). The diagnosis of intussusception is relatively rare in the patient’s age and the diagnosis of MD in the presence of intussusception is sparsely reported in the Philippines. Intussusception refers to the invagination (telescoping) of a part of the intestine into itself. Intussusception occurs primarily in infants and toddlers.1 The peak incidence is between 4 and 36 months of age, and it is the most common cause of intestinal obstruction in this age group. 2 Approximately 1 percent of cases are in infants younger than three months, 30 percent between 3 and 12 months, 20 percent between one and two years, 25 percent between two and three years, and 10 percent between three and four years.3 Although intussusception is most common in infants and young children, it is important to consider this diagnosis in children outside this age range. Approximately 10 percent of cases are in children over five years, and 3 to 4 percent in those over 10 years.3,4 We share here images from an actual case of a 15-year-old Filipino male with an ileo-ileal intussusception that is beyond the typical age range, with an incidental finding of an intraluminal mass that was histomorphologically diagnosed as Meckel’s diverticulum (MD). The diagnosis of intussusception is relatively rare in the patient’s age and the diagnosis of MD in the presence of intussusception is sparsely reported in the Philippines.
Meckel Diverticulum ; Strabismus ; Adolescent

Humans ; Infant ; Biliary Atresia/diagnosis* ; Choledochal Cyst/diagnosis* ; RNA, Circular ; Diagnosis, Differential

Humans ; Biliary Atresia

Humans ; Intestinal Obstruction/etiology* ; Meckel Diverticulum/complications*

OBJECTIVE: To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS). METHODS: Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing. RESULTS: Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons. CONCLUSION The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
DNA Copy Number Variations ; Facies ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics* ; Zinc Finger E-box Binding Homeobox 2/genetics*

OBJECTIVE: To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia. METHODS: Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo. CONCLUSION The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.
Abnormalities, Multiple ; Anus, Imperforate/genetics* ; Child ; Female ; Hearing Loss, Sensorineural/genetics* ; Humans ; Infant ; Infant, Newborn ; Male ; Renal Insufficiency ; Thumb/abnormalities* ; Transcription Factors/genetics*

Objective. To determine factors predictive of obstructive neonatal cholestasis among Filipino infants and to describe their outcome.

Methods. Jaundiced infants within the first eight weeks of life with liver biopsy were included. Excluded were cholestasis secondary to metabolic or infective causes. Retrospective chart review (2009-2012) and prospective recruitment of patients (2013) were done. A final diagnosis of non-obstructive or obstructive neonatal cholestasis was made on clinical, biochemical, ultrasonographic, and histologic findings, using histology and/or operative cholangiogram as the gold standard. The outcome was assessed on the 6th and 12th months from diagnosis. The crude odds ratio for obstructive jaundice was computed. Multiple logistic regression on significant variables (p-value <0.05) was done.

Results. Two hundred sixty-three (263) patients were included: 161 with non-obstructive and 102 with obstructive cause. Mean age at first consult was higher in those with obstruction. On logistic regression, females (OR:2.3), absence of a family history of idiopathic neonatal hepatitis (OR:4), and persistently pale/acholic stools (OR:13) were predictive of obstruction. 85% of patients with a non-obstructive cause are alive and well, while 80% of patients with obstruction have died.

Conclusion. Among jaundiced infants females, the absence of a family history of idiopathic neonatal hepatitis and persistently pale yellow/acholic stools were predictive of obstruction. The outcome was poor in patients with obstructive jaundice.

OBJECTIVE: To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities. METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent. CONCLUSION The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.
Facies ; Female ; Hirschsprung Disease ; Humans ; Hypopigmentation ; Intellectual Disability/genetics* ; Microcephaly ; Pregnancy ; Zinc Finger E-box Binding Homeobox 2/genetics*