X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination.

Disorders of central and peripheral nervous system should be considered in floppy infants with ventilator dependence. Workup for neuromuscular disorders should be undertaken in infants with hypotonia, weakness, contractures, feeding difficulties, or failed attempts at extubation. We present the case of a preterm infant with hypotonia and ventilator dependence where despite a positive result, further investigations were undertaken because of lack of clinical correlation. The infant had a rare combination of 2 neuromuscular conditions: X-linked myotubular myopathy and Duchenne muscular dystrophy. One was the reason for immediate clinical manifestation and the other influenced the prognosis and decision-making in determining reorientation of care. This case demonstrates the value of interpretation of a positive result that did not explain the clinical picture and warranted consideration of further diagnosis. This case also emphasizes the importance of discussions with family about the prognosis of 2 conditions that influenced decision making.

Professionals' Practices and Views regarding Neonatal Postmortem: Can We Improve Consent Rates by Improving Training?

BACKGROUND: In the UK, rates of neonatal postmortem (PM) are low. Consent for PM is required, and all parents should have the opportunity to discuss whether to have a post-mortem examination of their baby. OBJECTIVES: We aimed to explore neonatal healthcare professionals' experiences, knowledge, and views regarding the consent process for post-mortem examination after neonatal death. METHOD: An online survey of neonatal healthcare providers in the UK was conducted. Responses from 103 healthcare professionals were analysed, 84 of whom were doctors. The response rate of the British Association of Perinatal Medicine (BAPM) members was 11.7%. RESULTS: Perceived barriers to PM included cultural and religious practices of parents as well as a lack of rapport between parents and professionals. Of the respondents, 69.4% had observed a PM; these professionals had improved satisfaction with their training and confidence in counselling (p < 0.001 and p < 0.001) but not knowledge of the procedure (p = 0.77). Healthcare professionals reported conservative estimates of the likelihood that a PM would identify significant information regarding the cause of death. CONCLUSIONS: Confidence of neonatal staff in counselling could be improved by observing a PM. Training for staff in developing a rapport with parents and addressing emotional distress may also overcome significant barriers to consent for PM.

Ruptured splenic cavernous hemangioma in a neonate.

We present a case of a term neonate with hypovolemic shock after spontaneous vaginal delivery. Hemodynamic instability persisted despite resuscitation with packed red cells, fresh frozen plasma, and platelets. An ultrasound scan at 48 hours after birth followed by a computed tomographic scan demonstrated a splenic lesion and hemoperitoneum. She underwent an emergency laparotomy and splenectomy for splenic rupture. Histologic findings demonstrated a ruptured cavernous hemangioma of the spleen. Exsanguinating intraabdominal hemorrhage in the newborn infant is rare. The diagnosis and management, with particular reference to splenic cavernous hemangioma and splenic rupture, is discussed.