Mandibular unifocal Langerhans cell histiocytosis in a child - Report of successful management of a rare condition.

INTRODUCTION AND IMPORTANCE: Langerhans cell histiocytosis (LCH) is a proliferation of dendritic mononuclear cells with infiltration into organs locally or diffusely. Its aetiology is still unknown, and its clinical spectrum is quite wide. CASE PRESENTATION: A 2-year-old-male child presented to us with a solitary swelling in left mandibular region which was painless and increasing in size with time. It was diagnosed to be unifocal LCH of mandible on the basis of X-ray, ultrasonography of the involved mandible and fine needle aspiration cytology of the swelling and managed conservatively with oral steroids. DISCUSSION: LCH is often classified as single system, when the disease affects only one part of the body; or multisystem, when it affects more than one part of the body (Jezierska et al., 2018 [1]). In children, histiocytosis usually involves the bones and may consist of single or multiple sites. The skull is frequently affected. Children over five years of age usually have the single system disease, with just bone involvement but our patient was 2-year-old and had unifocal disease involving mandible. Young children, especially infants, are more likely to have the multisystem disease (Jezierska et al., 2018 [1]). CONCLUSION: Mandibular involvement associated with LCH is quite uncommon in paediatric population. Early diagnosis and prompt initiation of treatment are key to a good eventual outcome.

Surgical neonates with coronavirus infectious disease-19 infection: An experience with five cases at high-volume tertiary care centre of India.

Coronavirus infectious disease-19 (COVID-19) has caused serious threat to global health. With progression of time, more and more cases are being reported in paediatric age group. Management of COVID-19-positive neonates with surgical condition is challenging as apart from medical management of COVID-19-induced morbidities, they also require surgical intervention. Various guidelines have been proposed for the management of neonates with coronavirus infection and surgical pathologies. In this original article, we are sharing our experience in managing such neonates. We managed five neonates with different surgical pathologies who were positive for the coronavirus at the time of admission. They received medical management initially. Three of these five neonates were operated after they were negative for the virus. The remaining two patients were operated in positive state due to their condition requiring urgent surgical intervention. All the recommendations as per the COVID-19 protocol were followed. Four of these babies survived. One neonate with the diagnosis of gastroschisis expired during stay in designated COVID-19 neonatal intensive care unit. Authors conclude that COVID-19-positive status of neonates should not scare the health-care workers. COVID-19 positivity in neonates does not alter the outcome.

Immature ovarian teratoma in childhood: Case report of successful management of a monster mass in a preschool girl.

Introduction: Ovarian teratomas are most common germ cell neoplasms. Immature ovarian teratoma comprises less than 1% of all ovarian teratomas. It usually occurs in first two decades of life. Case presentation: We report a case of 4 years old female child presenting with pain and huge lump in lower abdomen. On abdominal ultrasonography, it revealed a solid-cystic pelvic lesion arising from left ovary. Magnetic resonance imaging (MRI) corroborated the ultrasonographic findings. She underwent laparotomy with right oophorectomy with excision of the mass. The histopathological examination of the excised mass confirmed it to be immature ovarian teratoma with yolk sac tumor. The patient had an uneventful recovery with no sign of tumor recurrence at a one and a half year follow-up. Conclusion: In spite of immature ovarian teratomas having aggressive behaviour and lethal outcome, a high degree of suspicion and timely management can translate into a very good eventual prognosis.

Pediatric hyperimmunoglobulin E syndrome (Job's syndrome) with STAT3 mutation: A case report.

INTRODUCTION: Job's syndrome or hyper-immunoglobulin E syndromes (HIES) is a rare, heterogeneous complex of primary immunodeficiency disorders. It is characterized by triad of extremely high serum immunoglobulin E (IgE) levels, recurrent cutaneous infections like chronic eczematous dermatitis, skin abscesses and recurrent sinopulmonary infections. These patients have characteristic facial appearance and many oral manifestations. Eosinophilia, retention of deciduous teeth and skeletal abnormalities are other important clinical features of this syndrome. Familial HIES is of two types depending on the type of gene involved; autosomal-dominant HIES (AD-HIES), which develops due to mutation in human signal transducer and activator of transcription 3 gene (STAT3) and autosomal recessive HIES caused by DOCK8 gene mutation, but most cases are sporadic. CASE PRESENTATION: Hereby, we present a case of 5 years old female child who presented to our hospital with extensive eczematous lesions over flexural aspect of arms and over the gluteal region extending to the lower limb. The complete clinical presentation and lab investigations have confirmed AD-HIES syndrome. A novel missense mutation in exon 17 (c.1593A > T, p.K531 N) was identified in the STAT3 gene. DISCUSSION: The therapeutic strategy is directed mainly toward the prevention and management of infections and symptoms. Children affected with HIES can develop life-threatening pulmonary infections. Pulmonary complications must be identified in the early stage of the disease to treat them effectively. Hence, early diagnosis and proper management are necessary. CONCLUSION: To date, information about paediatric HIES is limited. This case presents the clinical features, investigational procedures and management strategy for that particular condition in paediatric population.

Many faces of Wilms Tumor: Recent advances and future directions.

BACKGROUND: Wilms' tumor (WT) is the most frequently occurring paediatric renal tumor and is one of the most treatment-responsive tumors. A tumor-suppressor gene and other genetic abnormalities have been implicated in its etiology. In addition, patients with many congenital anomalies, such as Beckwith-Wiedemann syndrome, WAGR syndrome and Denys-Drash syndrome, have an increased risk of WT. METHODS AND RESULTS: Two large collaborative groups - National Wilms Tumor Study Group (NWTSG)/Children's Oncology Group (COG) and The International Society of Paediatric Oncology (SIOP) have laid down the guidelines for standardized treatment of WT, though differing in the diagnostic and therapeutic approach. The major difference in the two guidelines is the timing of surgery: SIOP recommends using preoperative chemotherapy and NWTSG/COG prefers primary surgery before any adjuvant treatments. Both these groups currently aim at intensifying treatment for patients with poor prognosticators while appropriating the therapy to reduce long-term complications for those with favourable prognostic features. As the survival rate has now reached 90%, the primary objectives of the physician are to perform nephron-sparing surgery in selected cases and to reduce the dosage and duration of chemotherapy and radiotherapy in appropriate cases. The purpose of this review is to present current standards of diagnosis and treatment of WT around the world. CONCLUSION: Further studies in future should be done to highlight the use of chemotherapy and radiotherapy under risk-stratified strategies. Further improvement in survival of these children can only be achieved by increasing awareness, early recognition, appropriate referral, and a multidisciplinary approach.

Hepatic echinococcosis: A review.

Cystic echinococcosis (CE) is a widely endemic helminthic disease caused by infection with metacestodes (larval stage) of the Echinococcus granulosus tapeworm and transmitted by dogs. E. granulosus are common parasites in certain parts of the world, and are present on every continent with the exception of Antarctica. As a result, a large number of people are affected by CE. In humans, the disease is characterized by slowly growing cyst commonly occurring in liver and lungs. Clinical features are mainly right upper quadrant pain, feeling of lump and enlarged tender liver. The cyst may be complicated by infection or rupture and may lead to anaphylactic reaction. The diagnosis depends on clinical suspicion. They appear in two ways as general (systemic) symptoms, and local symptoms based on the site and organ on which the larva settles. While cysts sometimes recover spontaneously, more severe clinical presentations are observed in immunosuppressed individuals. Ultrasonography supported by serology is the main diagnostic modality. The treatment varies from surgical intervention to minimally invasive treatments (percutaneous drainage) or medical therapies. Surgery is still the best treatment modality. Percutaneous drainage of the cyst is a good option in selected cases. New sensitive and specific diagnostic methods and effective therapeutic approaches against echinococcosis have been developed in the last 10 years.

Adenoid cystic carcinoma of the breast: Experience at a tertiary care centre of Northern India.

INTRODUCTION: Adenoid cystic carcinoma of the breast (breast-ACC) is a rare tumor with a favorable prognosis, despite its triple-negative status and special type of basal-like tumor for which scant population-based descriptive data exist. We sought to provide new population-based information on breast-ACC in India. Due to the paucity of the number of cases, the natural history of the disease is not fully understood. This study was undertaken to examine the clinico-pathological characteristics of the disease and to evaluate the outcome of surgical intervention in a tertiary referral care centre. MATERIALS AND METHODS: A retrospective analysis of all patients diagnosed and treated for ACC Breast in our hospital over the past 10 years was carried out (2005-2015). A database of the characteristics of these patients was developed. In all, 14 patients were identified. The investigations performed included routine blood investigations, chest X-ray, bone scan and either an ultrasound or a CT scan. RESULTS: During the time period of 10 years, of 2347 with breast malignancy admitted to our department, only 14 were diagnosed as having ACC (3.15%). All patients were women (100%). The patients had a median age of 60.7 years (range 37-81). The most common symptom was lump in the breast. Two patients (14.2%) presented with nipple and skin retraction and two patients (14.2%) were asymptomatic with the diagnosis made by an incidental finding on routine examination. The CT and/or magnetic resonance imaging (MRI) showed the typical features of carcinoma breast. All the 14 patients were taken up for surgery. Nine patients underwent Modified radical mastectomy and five patients underwent Breast conservation surgery. Axillary lymph node dissection was carried out in seven patients and sentinel lymph node biopsy in the remaining. Tumor cells had a characteristic histologic pattern of ACC of the breast. Perineural invasion was present in six cases. DISCUSSION: ACC of the breast is a very rare malignancy, accounting for less than 0.1% of all breast neoplasms. It affects the left and right breasts equally and tumors arise irrespective of the breast quadrants. However, in about 50 percent of patients, lesions are found in subareolar region. Pain or tenderness described in the minority of cases has not been correlated with histologically-confirmed perineural invasion. ACC is categorized as a basal-like subtype of breast carcinoma. Most cases are macroscopically well-circumscribed. Occasionally, pink, tan, or gray microcysts are evident. A tumor typically consists of a dual-cell population of luminal and myoepithelial-basal cells which may be arranged in one or more of three architectural patterns: tubular-trabecular, cribriform, and solid-basaloid. There is no consensus on the optimal management for patients with ACC of the breast. Based on its indolent clinical course and favorable outcome, ACC of the breast is generally cured by breast-conserving surgery, such as wide excision or quadrantectomy with or without radiotherapy. CONCLUSION: Breast-ACC among women is characterized by ER-negative/PR-negative expression, rare regional lymph node involvement, a favorable prognosis with excellent survival, and absence of associated cancers. These findings reinforce the importance of tailored treatments for breast-ACC and the apparent heterogeneity of basal-like breast cancers.

Primary malignant melanoma of the female urethra: Report of a rare neoplasm of the urinary tract.

INTRODUCTION: Melanoma is a malignant tumor that can affect any area of the anatomical economy. Its occurance in the female urethra is extremely rare. We report a case of primary malignant urethral melanoma developed in an elderly female patient. PRESENTATION OF CASE: A 70 years old female presented with dysuria, poor stream, gross haematuria, intermittent blood spots, and a painful mass. On physical examination, there were no suspicious lesions on the skin. On external genital examination, a lesion at the level of the urethral meatus was observed. The mass was removed by wide local excision under spinal anaesthesia. The pathological diagnosis was malignant melanoma of the urethra. DISCUSSION: The common presentations include bleeding and/or discharge per urethra, voiding dysfunction and the presence of tumor mass. Survival depends on the stage, location and size of the neoplasm at the time of diagnosis. Despite major surgery, radiotherapy or immunotherapy; malignant melanoma usually has a poor prognosis. CONCLUSION: Melanoma of the female urethra is an extremely uncommon pathology leading to paucity of literature and any definite recommendations regarding management. The histological and immunohistochemical findings can be helpful in making an early and accurate diagnosis of malignant melanoma in the urogenital region.

Iatrogenic gastric perforation in a misdiagnosed case of late presenting congenital diaphragmatic hernia: Report of an avoidable complication.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a defect in diaphragm which usually presents with severe respiratory distress in neonatal period. PRESENTATION OF CASE: We present a case of congenital diaphragmatic hernia presenting at an age of 2.5 years in a male child. It was misdiagnosed as a case of pyothorax for which chest tube was attempted on left side resulting in iatrogenic gastric perforation. The patient was managed by early and prompt surgery. DISCUSSION: Late presentation is usually rare with vast array of respiratory and gastrointestinal symptoms. It often leads to clinical and radiological misdiagnosis. CONCLUSION: Surgical intervention in misdiagnosed cases can lead to catastrophic iatrogenic complications.

Trichobezoar with and without Rapunzel syndrome in paediatric population: A case series from a tertiary care centre of Northern India.

INTRODUCTION: Trichobezoars are concretions formed by accumulation of hair in stomach. Usually, trichobezoar is confined to the stomach, but rarely it may extend from the stomach to the small intestine and even colon. This is an unusual form called Rapunzel syndrome. Our experience with this rare entity of Rapunzel syndrome and interesting entity of trichobezoar is being presented with review of literature. PRESENTATION OF CASES: We, at our institute, encountered four cases of trichobezoar in last five years, out of which two were found to be of Rapunzel syndrome. All of these cases were managed successfully by open surgical intervention in view of the very large size of the mass in all the cases. DISCUSSION: The clinical presentation is highly variable ranging from asymptomatic cases diagnosed incidently to serious gastrointestinal symptoms and complications. Cases of trichobezoar have been reported in literature very infrequently but Rapunzel syndrome is extremely rare and less than 50 cases have been reported in medical literature till date. CONCLUSION: Trichobezoar leading to Rapunzel syndrome is an extremely rare entity. The clinical presentation is usually vague and non-specific. Treatment is mainly surgical because of delayed presentation in majority of the cases. Psychiatric illness is the usual association.

Solid pseudopapillary tumor of the pancreas: Experience at a tertiary care centre of Northern India.

INTRODUCTION: Solid pseudopapillary tumor (SPT) of the pancreas is rare, accounting for 0.13-2.7% of all pancreatic tumors. It is unique, has low malignant potential and predominantly affects young women. Radiological and pathological studies have revealed that the tumor is quite different from other pancreatic tumors. But the cell origin of SPT and tumorigenesis are still enigmatic. Abdominal mass is the most common presenting symptom. Due to the paucity of the number of cases, the natural history of the disease is not fully understood. This study was undertaken to examine the clinico-pathological characteristics of the disease and to evaluate the outcome of surgical intervention in a tertiary referral care centre. MATERIALS AND METHODS: A retrospective analysis of all patients diagnosed and treated for SPN in our hospital over a period of 10 years (2005-2015) was carried out. A database of the characteristics of these patients was developed. In all, 11 patients were identified. A CT scan of the abdomen was performed in all the patients and the findings revealed a mass in the pancreas. The investigations performed included routine blood investigations, chest X-ray, CA-19-9 level and either an ultrasound or a CT Scan of the abdomen. RESULTS: During the time period of 10 years, of 349 patients with pancreatic malignancy admitted to our department, only 11 were diagnosed as having SPN (3.15%). Ten patients were women (90%) and one patient was a man (10%). The patients had a median age of 27.6 years (range 17-41). The most common symptoms were abdominal pain and dullness. Eight patients (72.7%) presented with abdominal pain or abdominal dullness and three patient (27%) were asymptomatic. All the 11 patients were taken up for surgery. Three patients underwent distal pancreatectomy with splenectomy, three patients underwent the total mass excision and one patient underwent total pancreatic resection. Three required extended distal pancreatectomy with splenectomy. One underwent spleen-preserving distal pancreatectomy. CONCLUSION: SPT is rare, but treatable pancreatic tumor. While clinical signs and symptoms are relatively nonspecific, characteristic findings on imaging and histology separate these tumors from the more malignant pancreatic tumors. The prognosis is favorable even in the presence of distant metastasis. Although surgical resection is generally curative, a close follow-up is advised in order to diagnose a local recurrence or distant metastasis.

Transverse testicular ectopia with scrotal hypospadias but without inguinal hernia - Case report of a rare association.

Transverse testicular ectopia is an extremely rare anomaly, in which both the testis migrate towards the same hemiscrotum through the same inguinal canal. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, pseudohermaphroditism, and scrotal anomalies; the association with inguinal hernia being the commonest. We, here, report a case of transverse testicular ectopia in a 12 years old boy having the ectopic testis in contralateral hemiscrotum without any inguinal hernia but having scrotal hypospadias with severe chordee. The diagnosis was made on clinical examination and confirmed on ultrasonography. Trans-septal orchiopexy was done for ectopic testis and hypospadias and chordee were managed by staged repair.

Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly.

Pyloric atresia may occur as an isolated or pure atresia or may be associated with other anomalies like those involving skin, renal or gastrointestinal systems etc. The most frequent association is with junctional epidermolysis bullosa, a rare autosomal recessive disorder affecting the skin and mucosa. We present a prospective evaluation of three patients of pyloric atresia at our institute over last 2 years (2012-2014)-one of them presenting at 5th day of life and the other two at 5 and 6 years of age, respectively. Two of them did not have any other associated anomaly whereas one patient had incidental finding of Meckel's diverticulum at the time of surgery for pyloric atresia plus he had been operated upon for right-sided pelvioureteric junction obstruction at 1 year of age. All patients underwent laparotomy after stabilization. The two patients presenting late had type 1 pyloric atresia with a pyloric membrane having a central hole in both the patients. So, excision of the membrane with Heineke Mikulicz pyloroplasty was done in both of them. The neonate who presented early had type 2 pyloric atresia and underwent Finney's pyloroplasty.

Retrocaval ureter presenting at 6 years of age in a girl child - An extreme rarity.

Retrocaval ureter is one of the very rare congenital anomalies. We report a case of retrocaval ureter in a 6-year-old girl who presented with right flank pain and hydronephrosis. The diagnosis was made on intravenous urography which showed typical "J" shape deformity in the proximal dilated ureter with moderate hydronephrosis. CT scan delineated the course of ureter. The patient was operated and findings were confirmed. The ureter was transected near the pelvis and a pyeloureteric anastomosis with pre-caval transposition of the ureter was performed and the patient was discharged in fair health.

Scrotal lymphangioma - a rare cause of scrotal swelling.

Lymphangioma is an extremely rare cause of scrotal swelling. We are reporting such a tumor in a one and half year old child presenting with a painless, progressive scrotal swelling. The mass was evaluated and excised completely. Histopathology confirmed it as Lymphangioma.

Congenital anterior urethral diverticulum in children: a case report and review.

Congenital anterior urethral diverticulum (CAUD) is an uncommon condition in children. We describe 2 patients of CAUD who presented with ventral penile swelling; in one, the site of swelling was just proximal to corona which is quite rare. The diagnosis was made on USG and MCU. Both patients had normal renal function. Open diverticulectomy and primary repair was done in both patients.

Tunica vaginalis: an aid in hypospadias fistula repair: our experience of 14 cases.

BACKGROUND: Urethrocutaneous fistula is the most common complication of hypospadias surgery. The correction of such fistula is associated with a failure rate of 10 to 40%. The step in successful repair of a fistula is separation of the suture lines in the urethra and skin using well vascularized elastic tissue. We report our experience of using the tunica vaginalis flap as a layer between the neourethra and skin suture line in repair of recurrent urethrocutaneous fistula. PATIENTS AND METHODS: We have used the tunica vaginalis flap for the repair of recurrent urethrocutaneous fistula in 14 children with a mean age of 6.5 years (range 3-14 years). All patients had undergone previous hypospadias repair and at least one previous attempt to close the fistula had failed. Surgery was initiated by injecting a povidone solution via urethral meatus to identify all fistulae. The fistulae were closed primarily and urethral suture line was covered with a flap of tunica vaginalis which was harvested either through a small scrotal incision and mobilized via a subcutaneous tunnel into the penile shaft (8/14) or by the same incision as for fistula closure (6/14). The testis was fixed to the scrotum. A urethral catheter was kept for urinary diversion for 10 days. RESULTS: The repair was successful in all but one patient in whom there was leak from the fistula site. One patient in whom tunica vaginalis fascia was tunnelled into neourethra developed scrotal haematoma which needed drainage. Penile cosmesis was acceptable without any significant postoperative testicular complication in 13/14 patients. CONCLUSION: Repair of recurrent urethrocutaneous fistula with a tunica vaginalis flap is highly effective regardless of fistula location. This flap is easy to mobilize and provide effective coverage of urethral suture line. Putting a glove drain should be considered into scrotal wound if perfect haemostasis is doubtful.

Aphallia: experience with 3 cases.

In view of the rarity of the lesion, we describe 3 cases of aphallia associated with genitourinary and nongenitourinary anomalies. One case was associated with an anorectal malformation, whereas 2 had a normal anal opening. One patient with a normal anal opening had an associated rectal-urethro-fistula. Development of the phallus, clinical presentation of aphallia, associated anomalies, and an outline of the management is discussed along with a review of the literature.