Anaplasia in childhood rhabdomyosarcoma: An under reported entity

Background: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Anaplasia is a rare phenomenon seen in childhood RMS. The most common histologic subtype was Embryonal followed by Alveolar and spindle subtype. Design: A total of 11 cases of pediatric RMS were selected from January 2017 to June 2019 presenting at various sites. Out of 11 cases, 2 were further diagnosed as Embryonal, 2 as Alveolar, 2 as Pleomorphic, 1 as Spindle subtype and rest 4 as RMS-NOS based on morphology. All cases were positive for Desmin. The presence of cells with lobated, hyperchromatic nuclei at least three times larger than the tumor cell (anaplastic cells) was selected as the main criterion to diagnose Anaplasia. Results: Out of the total 11 cases, anaplasia was seen in 7 cases. Out of these seven, five cases showed Focal Anaplasia (FA) (71.4%) and 2 cases showed Diffuse Anaplasia (DA) (28.6%). Out of 2 cases of Embryonal RMS one exhibited focal anaplasia (50%). One case of Spindle RMS showed diffuse anaplasia, 2 cases of pleomorphic RMS showed focal anaplasia. Out of 3 cases of RMS- NOS, 2 exhibited focal anaplaisa and one displayed Diffuse anaplasia. Both Alveolar RMS had no features of anaplasia. Conclusion: Presence of Anaplasia is a frequent observation in pediatric RMS. Anaplasia is often under reported in pediatric RMS. Pathologist should be more aware of this rare phenomenon.

Volvulus complicating dextrogastria in an infant.

We report eventration of right hemi-diaphragm resulting in gastric volvulus of the right sided stomach in an infant. The diagnosis of this rare association was made with contrast CT scan. Patient was initially managed with reduction of stomach, plication of right hemi diaphragm, anterior gastropexy and Ladds procedure, but required re-laparotomy after two months for recurrent volvulus.

Carmi syndrome complicated by pharyngo-esophageal perforation.

We describe a neonate having congenital pyloric atresia (CPA) associated with epidermolysis bullosa (EB), also known as Carmi syndrome. The case is unusual as it was complicated with pharyngo-esophageal perforation (PEP) and a definite family history of EB in pervious generations could be recorded.

Forme fruste choledochal cyst.

Two girls presenting with features of pancreatitis were diagnosed to have minimal dilatation of extra hepatic biliary duct (EHBD) associated with pancreatico-biliary maljunction (PBMJ). A high degree of suspicion is required to diagnose this condition that has been termed Forme fruste choledochal cyst (FFCC). Both did well with pancreatico-biliary disconnection procedure and reconstruction of biliary channel using enteric conduit.

Neonatal surgical jaundice revisited.

Neonatal hyperbilirubinemia is a common problem in newborn nurseries and manifest clinically as jaundice. Nearly 25-50% of all newborns and a much higher percentage of premature babies develop hyperbilirubinemia. This is mostly physiological, but a small percentage of these babies have pathological jaundice, requiring detailed investigations and management. It is also absolutely essential to consider a possibility of extra-hepatic biliary atresia early, during management of a case of neonatal direct hyperbilirubinemia as early surgical intervention results in a better outcome in EHBA. This article aims to describe the diagnostic approach to neonatal hyperbilirubinemia with special emphasis on conditions requiring surgical intervention also it throws light on present status of EHBA in Indian circumstances.

Mediastinal enteric duplication cyst containing aberrant pancreas.

OBJECTIVE: The purpose of the study is to report a unique association of clinical and pathological findings in a neonate. Foregut enteric duplication cysts--rare developmental anomalies that are associated with midline vertebral fusion anomalies. METHODS: We had a neonate with foregut duplication cyst who presented at birth with respiratory distress. The child also had associated communicating hydrocephalus. The patient underwent excision of the duplication cyst along with a ventriculo-peritoneal shunt. RESULT: The excised specimen revealed a duplication cyst lined by aberrant pancreatic tissue. CONCLUSION: The present case demonstrates histologically the presence of both pancreatic and gastric tissue.

Pulmonary blastoma.

A three-and-half-year-old boy presented with recurrent chest infections, fever and weight loss of three month duration not responding to antibiotics. The chest X-ray and CT scan revealed a large well-circumscribed mass in right upper thorax with collapse of right upper lobe. A preoperative diagnosis could not be made even after fine needle aspiration cytology. Thoracotomy and right upper lobectomy was done and the biopsy report was an inflammatory pseudotumor. The child remained well for three months after which his symptoms and the mass recurred. The histopathology slides were reviewed and revealed a biphasic malignant tumor suggestive of Pulmonary Blastoma (PB). Patient received four cycles of chemotherapy followed by re-exploration. The recurrent tumour could only be excised partly and the child succumbed to persistent shock postoperatively. The final histopathological diagnosis was confirmed as PB. Primary pulmonary neoplasms in children are rare and of these PB which is even rarer, constitutes less than 15%. The report highlights that the lack of familiarity with this entity still causes error in the diagnosis of PB.