Nilay Nirupam

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. RESULTS During the study period, 65 neonates developed Acinetobacter baumannii BSI; 33 were CRAB at an incidence of 0.50 case per 1,000 patient-days. Compared with carbapenem-sensitive Acinetobacter baumannii (CSAB), patients with CRAB BSI had significantly higher prior antimicrobial use, longer duration of ventilation, and late isolation of organisms. Feeding with expressed breast milk was protective. All isolates of Acinetobacter baumenii were sensitive to colistin and tigecycline. The all-cause mortality rates were 27.3% in CRAB and 9.4% in CSAB BSI, respectively (p = 0.074). CONCLUSIONS Neonatal BSI caused by CRAB was not common but caused high mortality. Feeding with breast milk was protective. Lack of effective antibiotics was the major challenge in treating these patients.

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. Computerized tomography of the abdomen showed hepatic metastases, which was confirmed by fine-needle aspiration cytology of the liver. She also had perirectal, aortocaval, para-aotic, mesenteric, and gastrohepatic ligament lymph node enlargement. GTG-banded chromosomal analysis showed a karyotype of 45, X, confirming Turner syndrome. A brief review of the neoplasms described in literature in association with Turner syndrome, and the possible pathogenetic mechanisms are discussed.

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. The increased transfusion requirement in this case prompted further investigations, which revealed the presence of myelofibrosis. Case reports of myelofibrosis and myelodysplastic syndromes with acquired hemoglobin disorders exist in literature, especially α-thalassemia. To the best of our knowledge, this is the first reported case of β-thalassemia intermedia in association with myelofibrosis.

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. This article aims at raising awareness among pediatricians about molecular basis and availability of confirmatory genetic testing for diagnosis and to help with prognosis in this disorder.

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. The level of protein in the cerebrospinal fluid was elevated. Magnetic resonance imaging of the lumbosacral spine showed enhancement and hypertrophy of the nerve roots. The patient responded well to steroids. The association of acquired scoliosis with chronic inflammatory demyelinating polyneuropathy has not been reported before.

Intravenous Anti-D immunoglobulin for control of life threatening bleed in dengue hemorrhagic fever with severe thrombocytopenia

We report an eight-year-old girl with Dengue Hemorrhagic Fever, shock and a life-threatening upper gastrointestinal and pulmonary bleed with refractory thrombocytopenia. She received 6 units of random donor platelets, 1 unit of single donor platelets, 1 unit of packed red cells and 4 units of fresh frozen plasma to control bleeding but had no response. Finally, 36 hour after onset of bleed intravenous Anti-D 75 µg/kg was given and she had a dramatic increase in platelet counts and cessation of all clinical bleed. This case report highlights that intravenous Anti-D can be a treatment option in Dengue Hemorrhagic Fever with severe refractory thrombocytopenia and massive bleeding.

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

Abstract 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. It revealed a novel translocation mutation, 46XX t(1;14) (p22;q32). The association of this mutation with congenital hypothyroidism has been postulated in our case report. To the best of our knowledge, this mutation has never been described before in cases of congenital hypothyroidism.

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. Hyperlactataemia was attributed to the perinatal exposure, to maternal antiretroviral (ARV) drugs, mainly nucleoside analogues. Asymptomatic and symptomatic hyperlactataemia is not uncommon in HIV-exposed infants. Neonates with tachypnoea, who are HIV- and ARV-exposed with no obvious cause, should be screened for raised arterial lactate.