Peutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis.

Introduction: Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and oral mucosa. The incidence of this syndrome is approximately 1 in 1,20,000 births. Materials and Methods: In this article, we are presenting 11 cases of PJS which were misdiagnosed and patients were compelled to visit hospital repeatedly. All these cases were diagnosed based on clinical suspicion, family history, and histopathological examination of specimens. Most of the cases presented with intussusception and required emergency surgical management. Results: PJS can be diagnosed by the presence of microscopically confirmed hamartomatous polyps and a minimum of two of the following clinical criteria: Family history, mucocutaneous melanotic spots, and small bowel polyps with bleeding per rectally. The diagnosis can be missed if the melanotic spots on the face are missed. Routine investigations, imaging, and endoscopy were done in all cases. PJS patients need regular follow-up due to chance of recurrence of symptoms and susceptibility to cancer. Conclusion: PJS needs a high index of suspicion for diagnosis in cases of recurrent abdominal pain with bleeding per rectum. Proper family history and meticulous clinical examination for melanosis are very important to prevent the misdiagnosis of these cases.

Hernia of Umbilical Cord: An Enigma.

Introduction: Hernia of the umbilical cord (HUC) is an uncommon problem which is often misdiagnosed, leading to inadequate treatment and various complications which cause increased morbidity and mortality in neonates. To address this issue, we took up this study. Materials and Methods: Patients diagnosed with HUC from January 1, 2017, to December 31, 2021, were retrospectively analyzed. The following data of all these patients were collected and retrospectively analyzed: demography, radiological investigations, echocardiography, contents of hernia, type of surgery performed, and outcome. Results: Eighteen out of 19 patients included in the study were taken up for surgery after baseline investigations and echocardiography. Out of 19 patients, 15 were discharged successfully and are on regular follow-up. Of the remaining four patients, an anastomotic leak occurred in two and they went into sepsis and succumbed. One of the patients died before any intervention and one succumbed on 3rd postoperative day due to sepsis. Conclusion: Timely referral and intervention can save precious lives. We need to educate doctors and health-care providers so that proper diagnosis and timely management can be done for this anomaly which is associated with less morbidity and a lower rate of associated anomalies.

A prospective comparison of topical feracrylum citrate versus adrenaline as haemostatic agent in hypospadias surgery in children.

BACKGROUND: A comparative study of topical feracrylum citrate versus adrenaline to minimise haemorrhage-related complications in paediatric hypospadiac patients. PATIENTS AND METHODS: A total of 108 consecutive paediatric hypospadiac patients (48 in the study group and 60 control - random allocation) were studied. In the study group, 1% feracrylum citrate solution was used and adrenaline (1:100,000) in controls. RESULTS: Among the study group, average number of blood-soaked gauge pieces were 2.95/patient, correlating with average intraoperative blood loss of 14.74 ml. In controls, average blood-soaked gauge pieces were 4.83/patient corresponding to an average blood loss of 24.13 ml. The average amount of blood loss during surgery in the <5 years was 13.70 ml/patient in the feracrylum group, while the same in the adrenaline group was 23.45 ml. Average duration of surgery was 79 min in the study group, while the same in controls was 94 min/patient. Average number of cauterisations was 0.255/patient in the study group and 0.583/patient among controls. Postoperative haematoma was seen in 8% study group compared with 18% controls. Wound oedema appeared in 4.17% study group and 11.67% controls. Postoperative complications were higher among controls. CONCLUSIONS: Feracrylum is more efficient and safer topical haemostatic agent than adrenaline. It reduced the frequency of cauterisation and tissue damage, intraoperative blood loss, and postoperative complications.

Congenital fibrosarcoma of the chest wall: report of a case.

Congenital fibrosarcoma (CFS) is a rare soft tissue tumour that usually occurs before the age of 1, and involves the distal extremities. The literature regarding the precise diagnosis and treatment of these tumours is limited. We present and discuss a case of CFS which ended fatally due to lung metastasis after 2 years.

Rhabdomyosarcoma of the posterior chest wall in a newborn: a case report.

Rhabdomyosarcoma is the most common soft tissue malignancy of childhood, but may occur extremely rarely in the neonatal period. There are only a few reports of rhabdomyosarcoma in neonates. Although, it may arise anywhere in the body, the head and neck, and genitourinary regions are the most frequent sites. Truncal and chest wall rhabdomyosarcoma is relatively rare occurrence. We report a neonate with embryonal rhabdomyosarcoma arising from the posterior chest wall muscles at birth. Computer Tomography scan raised the possibility of rhabdomyosarcoma or neurofibroma, fine-needle aspiration cytology was inconclusive. Total excision was done and chemotherapy given. At 6 months child is without recurrence.