An unusual case of neonatal stridor.

A25-day baby neonate presented with fever and stridor. He had severe respiratory distress at admission. The systemic examination was unremarkable.

Spinal epidural hematoma in a patient with hemophilia B presenting as acute abdomen.

Spontaneous spinal epidural hematoma (SSEH) is a rare complication in patients of haemophilia. We report the case of a 9-year-old boy with severe haemophilia B who presented with acute abdomen of 5 days duration. Acute onset of neck/back pain,walking impairment and urinary retention has usually been described as symptom complex in SSEH.

Risk factors for carbapenem-resistant Acinetobacter baumanii blood stream infections in a neonatal intensive care unit, Delhi, India.

Introduction: Carbapenem-resistant Acinetobacter baumannii (CRAB) infection is being increasingly observed and is associated with significant morbidity and mortality in newborns. In this study, we determined the epidemiology, risk factors, and outcomes of blood stream infection (BSI) caused by CRAB in neonates.

Methodology: The clinical charts of neonates who developed Acinetobacter baumannii BSI in the period between 1 January 2010 and 31 December 2012 were reviewed.

Ventricular tachycardia due to perinatal asphyxia.

Background: Perinatal asphyxia is known to precipitate myocardial dysfunction, rhythm abnormalities and congestive cardiac failure.

Case Characteristics: A 2-day old neonate with perinatal asphyxia.

Observation: He developed shock secondary to ventricular tachycardia, and required synchronized cardioversion for reversion of abnormal rhythm.

An unusual case of hyperlactataemia in a neonate.

We report a HIV uninfected neonate born to HIV positive mother, who had tachypnoea at birth. On investigations, he was found to have hyperlactataemia. All the secondary causes for elevated lactate were ruled out.

A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism.

A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. In view of the associated dysmorphism, a karyotype analysis was done.

Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic and central nervous system dysfunction with impaired control of breathing. The authors report a 37- d-old girl infant with recurrent apnea requiring repeated mechanical ventilation with no evidence of neuromuscular, cardiac or lung disease. A mutation analysis of PHOX2B gene revealed 25 polyalanine repeat expansion mutation on chromosome 4p12.

Childhood chronic inflammatory demyelinating polyneuropathy associated with acquired scoliosis: a case report.

An 11-year-old boy presented with progressive proximal muscle weakness and areflexia. He also had scoliosis with right convexity in the thoracic spine. Nerve conduction studies showed demyelination with conduction blocks.

Myelofibrosis: a cause of increased transfusion requirement in a child with β-thalassemia intermedia.

A 10-year-old girl presented with gradually increasing pallor and abdominal distension for 1 year and fever for 6 months. She required 3 packed cell transfusions during this interval. Investigations done revealed that the child had thalassemia intermedia and parents were carrier of β-thalassemia gene.

Association of celiac disease with aplastic anemia.

The authors report a case of 13-y-old boy who presented with pain in bilateral knee and ankle joints accompanied by petechiae all over the body and hematochezia. On investigation, he had pancytopenia, which on subsequent evaluation revealed aplastic anemia. On investigation for short stature, he was diagnosed as a case of celiac disease.

Adenocarcinoma of the rectum in a 13-year-old girl with Turner syndrome.

We describe a 13-year-old girl with short stature and delayed puberty who presented with hematochezia and recurrent abdominal pain for 1 year, and progressive weight loss for 6 months. Per rectal examination was suggestive of a rectal mass. Histopathologic evaluation of the proctoscopy-guided biopsy specimen showed rectal adenocarcinoma.