Combined ileal heterotopic pancreatic and gastric tissues causing ileocolic intussusception in an infant

Pathological intussusception is rare in infancy with Meckel’s diverticulum being the most common lesion. Isolated heterotopic pancreatic tissue in the serosa of the ileum causing intussusception is extremely rare. We report a case of ileal heterotopic pancreatic tissue associated with ectopic gastric mucosa causing ileocolic intussusception in an infant, with review of the literature.     

Linfoma anaplásico de células grandes endobronquial en la infancia

Anaplastic large cell lymphoma is a very rare disease in childhood. The most common location of this lymphoma is lymph node and skin, with endobronchial involvement being extremely rare. We report a case of a 10-year-old boy diagnosed by chance with an endobronchial anaplastic large cell lymphoma, while he was being investigated for a a benign bone disease, due to the initial absence of respiratory symptoms.     

Spontaneous rupture of choledochal cyst

Choledochal cyst in an uncommon congenital anomaly with classic presentation triad of abdominal pain, jaundice and right upper abdominal mass. Presentation due to biliary peritonitis following cyst rupture is extremely rare. One such case which was successfully treated is being reported.     

Transitional cell papilloma of the bladder in a child: a case report and review of literature

Transitional cell papillomas of the bladder are tumours of epithelial origin that are extremely rare in children. A large number have been found to be sited adjacent to one of the ureteric orifices. They are benign and endoscopic excision has been considered curative; however, the rate of recurrence reported in the literature is fairly high, with the earliest recurrence being at 3 months. We report the case of a 7-year-old girl who presented with the rare lesion situated just above the right ureteric orifice.     

Baller-Gerold syndrome

Craniosynostosis is known to be associated with a large number of inherited disorders of childhood. Its presence along with absent thumbs and ectopic anus is the characteristic feature of one such extremely rare disorder, described as the Baller Gerold syndrome. The typical features are being reported here.     

Baller - Gerold syndrome

Craniosynostosis is known to be associated with a large number of inherited disorders of childhood. Its presence along with absent thumbs and ectopic anus is the characteristic feature of one such extremely rare disorder, described as the Bailer Gerold syndrome. The typical features are being reported here.     

Congenital Giant Aneurysm of the Left Innominate Vein: Is Surgical Treatment Required?

Congenital aneurysms of the thoracic venous system are rare. In particular, innominate venous aneurysms are extremely rare. We describe a 16-year-old girl whose chest x-ray suggested a mediastinal tumor. Three-dimensional contrast-enhancement magnetic resonance venography showed a giant sacciform aneurysm of the left innominate vein and dilatation of the right innominate vein. The patient was asymptomatic, and there were no significant physical findings. Therefore, the patient is being followed without surgical treatment.     

Breast feeding and protection against neonatal sepsis in a high risk population.

Protection against neonatal sepsis by breast feeding was investigated in a developing community. A case-control study was carried out with 42 cases from a hospital and 270 controls, matched for age and socioeconomic conditions from the community. Exclusive breast feeding was extremely rare, most babies being partially breast fed and a few being given formula feed or animal milk. A highly significant odds ratio of 18 was obtained, showing that even partial breast feeding protects against neonatal sepsis in such a population.     

Trisomy 6 with choanal atresia. The first Italian case]

The authors report the first Italian case (second in the world) of partial trisomy syndrome of chromosome 6. All the essential signs were present, in addition to choanal atresia, reported only once before in Italy. The phenomenological picture of this extremely rare anomaly is in the process of being completed by successive reports.     

Congenital varicella syndrome

The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall     

Neonatal splenic necrosis not related to wandering spleen.

Splenic necrosis is extremely rare in neonates, the cases recorded so far being secondary to torsion of wandering organs. A newborn with an abdominal mass who underwent exchange transfusions through an umbilical catheter is presented here. Comprehensive investigation led to the suspicion of enteric duplication, but a splenic necrosis with no features of wandering spleen was found at laparotomy. The pathogenesis and preoperative diagnostic work-up of splenic necrosis are emphasised.     

Transformation of childhood MDS-refractory anemia to acute lymphoblastic leukemia

Myelodysplastic syndromes (MDS) are clonal disorders of hematopoietic stem cell. Patients have a deteriorating course with about 30% evolving into acute leukemias usually of the myeloid phenotype. Evolution into acute lymphoblastic leukemia is a rare and intriguing phenomenon seen in far less than 1% of adult cases, and extremely rare in pediatric population. We report a case of childhood MDS-refractory anemia transforming into acute lymphoblastic leukemia after an interval of 21 months since presentation and being on cyclosporine therapy for 9.5 months. The case raises further questions about the biology of MDS and the potential role of cyclosporine in leukemic transformation.     

Susac syndrome in a young child

Susac syndrome is a microangiopathy of unknown origin affecting the brain, retina and inner ear. This rare entity is often misdiagnosed as a demyelinating condition such as multiple sclerosis or acute disseminated encephalomyelitis. A high index of suspicion must be present as the majority of patients do not have the complete clinical triad at the time of onset of symptoms. The radiologist plays an important role when the disease is suspected and helps orient the investigations. The syndrome has characteristic imaging features on MRI that include multifocal white matter and occasional grey matter lesions, the corpus callosum being always involved. The predominant central callosal lesions, especially with rapid cystic transformation (central callosal holes) can be considered pathognomonic of this condition in the appropriate clinical setting. This disease is extremely rare in children. We report a case of Susac syndrome in a 9-year-old girl to increase the awareness among paediatric radiologists of this entity, which is usually not considered as a differential diagnosis of multifocal white matter involvement in this age group.     

Cecal volvulus: a rare cause of bowel obstruction in a pediatric patient diagnosed pre-operatively by conventional imaging studies

Cecal volvulus is an acute surgical condition that is extremely rare in children, with a mortality rate of up to 40%. The clinical symptoms are often non-specific, and pediatric patients frequently have neurological deficits with associated communication difficulties, making the clinical diagnosis extremely challenging. Conventional radiographic imaging studies play a key role in the prospective diagnosis in children. We report a rare case of cecal volvulus in a 12-year-old boy who was diagnosed pre-operatively by abdominal radiographs and a contrast enema.     

Epidermoid cyst: rare testicular tumor in children

Epidermoid cyst of the testis, extremely rare in children, is a non-teratomatous benign tumor, and testis-sparing surgery should be the treatment of choice. To prevent unnecessary orchiectomy, recognition of this rare tumor in children is essential.A commentary on this paper is available at     

A case of essential thrombocythemia in an 8-year-old boy

Thrombocytosis in childhood is not rare but essential thrombocythemia is an extremely rare myeloproliferative disorder in childhood. The authors report a case of essential thrombocythemia in an 8-year-old boy who was diagnosed during further evaluation of an incidental finding of thrombocythemia in a school health examination.     

Essstörungen des Kindes- und Jugendalters

Eating disorders range from being a picky eater to the severe disorders seen in adolescence. Anorexia and obesity are the dreaded conditions. Their diagnosis and treatment are complicated. In childhood and adolescence, however, if treatment is initiated in good time it is very rare for any of those affected to die of these conditions. The type of treatment depends on the available resources and convictions, both in Europe and in the USA. Early recognition and treatment of these disorders are extremely important. Enormous significance attacnes to having serious talks with the children and adolescents about the problem and to being vigilant. It is often pointless to hope for consensus, which means cooperation with those around the person directly affected is even more important than it would be otherwise.     

Familial severe congenital diaphragmatic hernia: Left herniation in one sibling and bilateral herniation in another

Familial congenital diaphragmatic hernia (CDH) is extremely rare; it comprises about 2% of all CDH cases. The empirical risk is about 2%, increasing to 10% in a family with two affected children. This report describes severe CDH in two siblings who had been diagnosed prenatally. The female newborn diagnosed with left CDH prenatally was born at 38 weeks of gestation. Despite surgical repair and intensive treatment, she died 10 days after birth. Her younger brother was born at 39 weeks of gestation after being diagnosed with bilateral CDH prenatally, and died 75 min after birth. Both infants had neither other congenital anomaly nor chromosomal abnormalities. Their parents are healthy without consanguinity. Their first daughter and the fourth child have no congenital anomalies.     

An unusual complication of nasal foreign body in a pediatric patient: A case report

Foreign body (FB) of nasal cavity is a common clinical incidence in Pediatric Otorhinolaryngology. Inferior meatus is a rare location for FB lodgment inside the nasal cavity. In case of nasal FB, patients usually present with nasal obstruction, foul smell discharge and epistaxis. FB at the inferior meatus blocking the nasolacrimal outflow is an extremely rare complication of nasal FB leading to dacryocystitis. X-ray skull will help to rule out the radio-opaque FB in the nasal cavity. Diagnostic nasal endoscopy will help for accurate diagnosis of nasal FB. Early diagnosis and safe removal of FB from nasal cavity help to reduce complications. We present an unusual case of nasal FB in a 10-year-old boy presented with chronic dacryocystitis. Chronic dacryocystitis is an extremely rare presentation due to FB of nasal cavity.     

Cystic fibrosis presenting as kwashiorkor in a Sri Lankan infant

Growth failure is a common presentation of patients with pancreatic insufficient cystic fibrosis. However, full blown kwashiorkor is extremely rare. Cystic fibrosis is also considered to be rare in the South Asian population. This report describes a Sri Lankan infant with cystic fibrosis who presented with clinical features of severe kwashiorkor.