Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory syndrome recently described in children. We investigated the clinical phenotype, genetic cause and the immune dysregulation in nine CANDLE patients.
Genomic DNA from all patients was screened for PSMB8 (Proteasome subunit beta type-8) mutations. Serum cytokine levels were measured from four patients. Skin biopsies were evaluated immunohistochemically and blood microarray profile (n=4) and stat-1 phosphorylation (n=3) were assessed.
One patient was homozygous for a novel nonsense mutation in PSMB8 (c.405C>A) suggesting a protein truncation, four patients were homozygous and two were heterozygous for a previously reported missense mutation (c.224C>T), and one patient showed no mutation. None of these sequence changes was observed in chromosomes from 750 healthy controls. Of the four patients with the same mutation, only two share the same haplotype indicating a mutational hot spot. PSMB8 mutation-positive and -negative patients expressed high IP-10 (Interferon gamma-induced protein 10) levels. Levels of MCP-1, IL-6, and IL-1Ra were moderately elevated. Microarray profiles and monocyte stat-1 activation suggested a unique interferon (IFN) signaling signature, unlike in other autoinflammatory disorders.
CANDLE is caused by mutations in PSMB8, a gene recently reported to cause JMP syndrome (joint contractures, muscle atrophy and panniculitis induced lipodystrophy) in adults. We extend the clinical and pathogenic description of this novel autoinflammatory syndrome, thereby expanding the clinical and genetic disease spectrum of PSMB8-associated disorders. IFN may be a key mediator of the inflammatory response and may present a therapeutic target.
Fetus in fetu is a rare developmental aberration, characterized by encasement of partially developed monozygotic, diamniotic, and monochorionic fetus into the normally developing host. A 4-month-old boy presented with abdominal mass. Radiological investigations gave the suspicion of fetus in fetu. At surgery a fetus enclosed in an amnion like membrane at upper retroperitoneal location was found and excised. The patient is doing well after the operation.
Fetus in fetu; Teratoma; Abdominal mass
Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.
Congenital diaphragmatic hernia; diaphragmatic agenesis; Prolene mesh; repair
Decorative crystal gel balls are used for decoration purpose. Due to their attractive appearance they may be ingested by children. This may result in grave complications. A case of decorative crystal ball ingestion is being reported in a 6 months old infant who presented with sub acute intestinal obstruction and was operated. Crystal gel balls were causing obstruction of jejunum. Enterotomy and removal of the mass of jelly balls was done with primary closure. The patient was re-operated for anastomotic disruption on 6th postoperative day. Baby developed septicemia, and succumbed after 2 days of second operation.
Crystal balls; Jelly balls; Mortality
We report a case of persistent cloaca and type I congenital pouch colon associated with ileovesical and colovesical fistulae. Such a malformation has not been reported so far.
Congenital pouch colon; Ileovesical fistula; persistent cloaca
Foreign body ingestion is common in children. Sharp foreign bodies are potentially harmful and can result various complications. An 8-month-old infant presented with incarcerated umbilical hernia. With a suspicion of strangulation, operation was performed that revealed a loop of ileum being stuck in the umbilical defect. The loop of ileum was freed from the umbilicus which demonstrated open ends of safety pin piercing out of bowel lumen. The enterotomy followed by removal of safety pin was performed.
Safety pin ingestion; Strangulated umbilical hernia; Intestinal perforation
Cloacal malformations are challenging as to the surgical correction. A case of cloacal malformation who underwent reconstructive surgery is being reported. The patient had colostomy in the neonatal period and reconstruction was performed at the age of 6 year. The surgical management included abdomino-perineal anorecto-urethro-colo-vaginoplasty. The patient is fully continent of urine and achieved fair continence of feces at 9 months of follow up.
Persistent cloaca; Urogenital sinus; Anorectal malformation; Fecal continence
Pulmonary sequestration cyst is a rare entity in pediatric patients. Most of the time, it is diagnosed as an incidental finding. It is associated with other congenital anomalies, especially congenital diaphragmatic hernia. We report a patient of cerebral palsy presented with vomiting and recurrent chest infections. He was diagnosed to have hiatal hernia on computed tomography scan of chest. At operation, a pulmonary sequestration cyst along with hiatal hernia, malrotation, and meckel's diverticulum was encountered. The sequestration cyst was managed through transhiatal approach.
Bronchopulmonary sequestration; foregut malrotation; hiatal hernia; meckel's diverticulum
Crystal jelly balls are used for decorative purpose in homes and offices. They swell on contact with water. We managed a patient with a clinical diagnosis of acute abdomen. At surgery, there was fecal peritonitis and three ileal perforations caused by previously ingested decorative crystal balls.
Acute abdomen; crystal balls; generalized peritonitis; intestinal perforation; missing foreign body
Acute gastric volvulus secondary to malrotation of gut is a rare surgical emergency. We report a case of an eight years old cerebral palsy (CP) child who presented to us with sudden upper abdominal distension and non productive retching. X-ray abdomen revealed a huge gas shadow on left side of abdomen with paucity of distal gas shadows. On exploration organoaxial gastric volvulus with gastric ischemia, secondary to malrotation of gut, was found. Volvulus derotated and Ladd’s procedure was done. Gastropexy and fundoplication was not done due to gastric ischemia. Early diagnosis and surgical management can save the patient from fatal complications of gastric perforation due to gastric ischemia.
Acute gastric volvulus; Gastric ischemia; Malrotation; Gastropexy
A number of diseases can present as acute right iliac region pain. Lymph node infarction, located adjacent to the cecum, mimicking acute appendicitis in a 13-year-old boy is presented here.
Lymph node infarction; Acute appendicitis; Pain right iliac region
Gastric teratomas are extremely rare tumors. A 15-day-old neonate presented with abdominal mass. Ultrasound of abdomen showed mixed echogenicity lesion. CT scan showed a mass with solid and cystic components and internal calcifications. At operation a tumor arising from the posterior wall of the stomach found. It was exogastric as well as endogastric in location. Biopsy report was suggestive of mature teratoma.
Gastric teratoma; Endogastric tumor; Exogastric tumour
Intrapulmonary sequestrations are quite uncommon in pediatric age group. The preoperative diagnosis of pulmonary sequestration is not possible in most of the cases. A 2-year-old boy presented with recurrent episodes of chest infections and respiratory distress. A preoperative diagnosis of congenital lobar emphysema was made on the basis of chest radiograph and computed tomography scan. At operation, an intralobar pulmonary sequestration was found. The sequestration cyst was excised with uneventful recovery.
Congenital lobar emphysema; pediatric age group; pulmonary sequestration
Meconium ileus is one of important causes of neonatal intestinal obstruction. Many patients respond well to nonsurgical management with enemas, however, few patients may develop complications in the postnatal period thus requiring urgent operation. A 2 day old newborn presented with clinical features of intestinal obstruction. There was a suspicion of meconium ileus. Contrast x-ray with gastrografin enema was suggestive of unused colon with beaded appearance. Patient had to be surgery as repeated enemas did not improve the condition and progressive abdominal distension occurred. At exploration twist of the dilated, meconium filled loop of small bowel found. De-twisting of the volvulus done and Bishop Koop ileostomy fashioned. Patient made an uneventful recovery. Stoma was closed six months later.
Meconium ileus; Volvulus; Complications
Terminal myelocystocele is a rare spinal dysraphism that present as lumbosacral mass. Magnetic resonance imaging (MRI) is the modality of choice for preoperative diagnosis. A 2.5 months old female baby presented with lumbosacral skin covered mass. There were no associated neurological deficits. MRI of the lesion suggested two cysts, one of which was continuous with the central canal of the spinal cord. At operation terminal myelocystocele was found with tethering of the spinal cord. Untethering of the spinal cord and repair of the myelocystocele performed with uneventful recovery.
Terminal myelocystocele; Spinal dysraphism; Myelomeningocele
Cystic hygromas are the cystic variety of lymphangioma, common locations being cervico-facial regions and axilla. Respiratory distress, recurrent infections or cosmetic reasons are the main indications of the treatment. The ideal treatment is complete surgical excision; however, there is a gradual conversion towards sclerosant therapy. This article reviews the current literature and discusses the various problems encountered during the management of these lesions.
Cystic hygroma; surgical excision; bleomycin; complications