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. The roentgenogram of soft tissues of neck revealed widening of superior mediastinum. Computed tomography of neck and upper chest revealed multiple abscesses in the retropharyngeal space, parapharyngeal space, and superior mediastinum. The child improved on aggressive antibiotic treatment protocol. It raises awareness among paediatricians to consider this diagnosis when confronting neonate with fever and stridor. An early diagnosis and aggressive appropriate management will reduce mortality and morbidity associated with this life-threatening condition. A thorough search for a primary source of infection should be done. Neonate should be screened for primary and secondary immunodeficiency disorders before discharge.

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. The hematoma was identified by magnetic resonance imaging of the spinal column. Our case calls attention to recognition of abdominal pain (with no other localizing features) as initial symptom of SSEH and prompt evaluation and management before more overt symptoms of spinal cord compression becomes evident.

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.

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. OUTCOME: Reversal of arrhythmia leading to recovery. MESSAGE: Early identification and management of ventricular tachycardia in neonate with perinatal asphyxia can be life-saving.

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.

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. 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.

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.

Myelofibrosis: a cause of increased transfusion requirement in a child with ß-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 ß-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 ß-thalassemia intermedia in association with myelofibrosis.

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. He was started on gluten free diet and the counts improved over 8 mo. Association between aplastic anemia and celiac disease has rarely been reported. To the best of authors' knowledge only 8 adult cases of celiac disease associated with aplastic anemia have been published. This is the first report to suggest an association in children and response to a gluten free diet.

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.

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.