Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival?

CONTEXT: Spinal muscular atrophy type 1, an autosomal recessive motor neuron disease, is a leading genetic cause of death in infancy and early childhood. OBJECTIVE: To determine whether the early initiation of noninvasive respiratory interventions is associated with longer survival. DESIGN: Single-institution retrospective cohort study identified children with spinal muscular atrophy type 1 from January 1, 2002 to May 1, 2009 who were followed for 2.3 mean yrs. SETTING: Tertiary care children's hospital and outpatient clinics in a vertically integrated healthcare system. PATIENTS OR OTHER PARTICIPANTS: Forty-nine children with spinal muscular atrophy type 1 were grouped according to the level of respiratory support their caregivers chose within the first 3 months after diagnosis: proactive respiratory care (n = 26) and supportive care (n = 23). INTERVENTIONS: Proactive respiratory care included bilevel noninvasive ventilation during sleep and twice a day cough assist while supportive respiratory care included suctioning, with or without supplemental oxygen. MEASUREMENTS AND MAIN RESULTS: Kaplan-Meier survival curves were assessed based on intention to treat. Children treated with early proactive respiratory support had statistically longer survival compared to supportive care (log rank 0.047); however, the adjusted hazard ratio for survival was not statistically different (2.44 [95% confidence interval 0.84-7.1]). Children in the proactive group were more likely to be hospitalized for respiratory insufficiency (83% vs. 46%) and had shortened time after diagnosis until first hospital admission for respiratory insufficiency (median 118 vs. 979 days). CONCLUSION: Longer survival time with spinal muscular atrophy type 1 is associated with early, noninvasive respiratory care interventions after diagnosis.

Unintentional fatal phosphine gas poisoning of a family.

OBJECTIVE: The objective of the study was to report the toxicity of phosphine gas after a residential fumigation that resulted in fatal poisoning of a 15-month-old toddler and her 4-year-old sibling. METHODS: This is a case report and a review of literature. RESULTS: A family of 6 members was exposed to phosphine gas after their yard was treated with aluminum phosphide for a rodent infestation. The inhalation of phosphine gas initially caused symptoms of abdominal distress in all of the family members. Within 36 hours of exposure, the 4-year-old sibling died of cardiopulmonary failure in a local emergency department. After an initial presentation of respiratory distress, the 15-month-old toddler progressed to complete cardiopulmonary collapse and did not survive despite aggressive intervention including extracorporeal membrane life support. CONCLUSIONS: Unintentional phosphine gas exposure is rare but has a toxic profile that results in a high fatality rate with no known antidote.

Anomalous origin of the left coronary artery from the pulmonary artery in Alagille syndrome.

Alagille syndrome is a dominantly inherited multisystem disorder involving multiple organs including the liver, heart, eyes, face, and skeleton. Congenital heart defects, the majority of which are right-sided, contribute significantly to the mortality of these patients. We report a patient with Alagille syndrome who presented with mitral valve regurgitation requiring valvuloplasty and subsequent mitral valve replacement. The patient was ultimately diagnosed with anomalous origin of the left coronary artery from the pulmonary artery and underwent successful reimplantation.