Congenital surfactant protein B (SP-B) deficiency: a case report.

The incapacity to synthesize certain components of pulmonary surfactant causes a heterogeneous group of rare respiratory diseases called genetic disorders of surfactant dysfunction. We report a female full-term infant with neonatal respiratory distress of early onset due to inherited SP-B deficiency. The infant failed oxygen weaning at multiple trials. Chest computed tomography was performed on the 29th day of life revealing ground-glass opacities, regular interlobular septal thickening and fine interlobular reticulations. Analysis of genomic DNA showed homozygosity for an extremely rare SFTPB gene variant (c.620A>G, p.Tyr207Cys). Both parents were heterozygotes for the mutation. The diagnosis of congenital SP-B deficiency should be suspected whenever an early and acute respiratory failure in a term or near-term infant does not resolve after five days of age: diagnostic confirmation can be easily and rapidly obtained with the analysis of genomic DNA.

Spontaneous intrapleural rupture of mediastinal teratoma in child.

Introduction: Mediastinal teratomas are rare in children. Nevertheless, they represent the most frequent mediastinal germ cell tumor. Most often, they are discovered incidentally in older children or adolescents on chest X-ray. There are other signs of discovery but less frequent: chest pain, hemoptysis and signs of mediastinal compression. Rupture into pleural space, pericardium or tracheobronchial tree are exceptional. Case presentation: We report the case of 7-years old girl admitted for chest pain. The chest x-ray showed a mediastinal mass with calcifications and pleural effusion. Chest CT scan revealed a well limited heterogeneous anterior mediastinal mass with calcifications and a left pleural effusion. She underwent a median sternotomy and the tumor was completely excised. Histopathology confirmed the diagnosis of mature teratoma. Conclusion: Intrapleural rupture is a rare complication of mature teratoma. Calcifications on chest imaging in afebrile children with pleural effusion should be suspected of mediastinal teratoma.

[Haemophilus influenzae type B (Hib) meningitis in older children: about a case]. / Méningo-encéphalite à Haemophilus influenzae type b chez le grand enfant: à propos d'un cas.

Since widespread vaccination, invasive Haemophilus influenzae type b (Hib) has become a rare infection. We here report the case of a 9-year-old boy admitted with seizures associated with fever and impaired general condition. First examination showed comatose child, Glasgow score 9/15, fever 38.2, deep tendon reflexes without frank meningeal syndrome. Laboratory tests showed polymorphonuclear neutrophils (PNN) with CRP 45.8. Cerebrospinal fluid (CSF) analysis revealed a cloudy appearance, pleiocytosis (6760 white blood cell count/ mm3) with neutrophil predominance (PNN = 90%, lymphocytes = 10%). Direct examination showed polymorphic bacilli, soluble antigen of Haemophilus influenzae type b, decreased glycorachy 0.04 mmol/L and hyper proteinorachie 4.097 g/L. MRI of the cerebellomedullary fissure revealed subtentorial and supratentorial encephalitis with bilateral parieto-occipital and cerebellar cortical and subcortical signal anomalies. The patient was treated with cefotaxime with favorable outcome. The patient had not been vaccinated against Hib in early childhood. After a 3-year follow-up, the patient was asymptomatic with no neurosensory sequelae. In subjects with severe Hib infection proof of vaccination or testing for underlying immunodeficiency are required.