Unraveling Patterns of Congenital Structural Malformations in Infants: A Hospital-Based Descriptive Study.

Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region. External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common. The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%). Death and referral are commonly seen in CHD.

Tiny Tummies, Big Challenges: A Case Series of Neonatal Gastric Perforations.

The main aim of this article is to highlight the clinical features indicating gastric perforation in neonates so that prompt surgery can provide a good outcome for an otherwise fatal condition. Data was collected retrospectively from all neonates who presented to our tertiary care institute with subsequent diagnosis of gastric perforation from January 2020 to December 2023 (three years). Simple statistical analysis involving sums, means, averages, and percentages was used. Five neonates were operated over a period of three years with a diagnosis of gastric perforation. Two of them were spontaneous. Of the remaining three, each one was associated with malrotation, prematurity, and COVID-19. All five cases could be diagnosed with the finding of free gas in the peritoneum on the abdominal radiograph. Overall mortality was 60% (three of five neonates). Neonatal gastric perforation typically occurs in the first week of life, specifically within the second to seventh day. Symptom onset is usually sudden, with abdominal distension as the first sign, with acidic contents causing severe peritonitis and rapid progression to sepsis and shock. Early diagnosis with subsequent timely resuscitation and surgical repair is crucial to good outcomes. Massive pneumoperitoneum on abdominal radiographs with typical signs in a neonate should raise suspicion of gastric perforation, especially in the first week of life.

Hepatoblastoma with Precocious Puberty.

Hepatoblastoma (HB), a primary liver tumor of childhood, is often accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, the beta-human chorionic gonadotropin (ß-hCG) levels may also be elevated, which can cause peripheral precocious puberty (PPP). We report a case of HB with precocious puberty wherein hormonal assays showed an increase in α-FP, ß-hCG, and testosterone levels, and suppression of follicle-stimulating and luteinizing hormone levels. After chemotherapy and surgery, α-FP, ß-hCG, and testosterone levels normalized, and the signs of virilization did not progress further. New therapeutic approaches have made a previously reported grim prognosis of virilizing HB, more favorable now. In the assessment of PPP, the possibility of a tumoral source for the hormones should also be considered.

Duodenal perforation with an unusual presentation: a case report.

A young female presented with classical complaints suggestive of peptic ulcer disease leading to signs of peritonitis. The said patient after being subjected to baseline workup was subjected to laparotomy which proved to be a surgical surprise. A live ascaris lumbricoides worm was seen pouting out of a duodenal perforation.