No abstract

No abstract

We report a 10-month-old male infant who was admitted to our hospital with a history of failure to thrive and bulky stools. On examination, he was dystrophic and had a protruding abdomen, but he was well oxygenated and his lungs were clear on auscultation. A tachycardia of 145 beats per min and radiological evidence of cardiomegaly indicated involvement of the heart, but an ECG failed to show signs of myocarditis or cardiac hypertrophy. An elevated sweat chloride concentration of 141 mEq/l confirmed the diagnosis of cystic fibrosis (CF). Molecular analysis revealed heterozygosity for the common mutation delta F508. He died unexpectedly of a sudden cardiac arrest 2 days later. Autopsy revealed scattered myocardial necrosis and fibrosis. Some 50 documented cases of myocardial fibrosis in infants with CF have been reported. Suggested causes such as malnourishment and hypovitaminosis remain speculative as systematic studies have yet to be done.

The discussion surrounding shaken baby syndrome (SBS) arose from the lack of evidence implicating diffuse axonal injury (DAI) as a cause of death. It was assumed instead that injury to the cervical cord, medulla, and nerve roots played a causal role. The present pathomorphological study examines 18 selected infants (<1-year-old) whose deaths were highly suspicious for SBS, exhibiting the classical SBS triad of acute subdural hemorrhage (SDH), retinal bleeding, and encephalopathy. Gross autopsy and microscopic findings of these infants were compared with those of 19 victims of sudden infant death syndrome (SIDS; control group 1) and of 14 infants who died of disease or injuries/violence not involving the head, neck or eyes (control group 2). Symptoms of mechanical impact to the head were evident in seven of the SBS infants, but in none of the control infants. DAI was not detected in either the SBS or control cases. Localized axonal injury (AI) was regularly present in the brains of the SBS infants surviving longer than 1.5-3.0 h, but only occasionally in the craniocervical junction and within the nerve roots of the upper cervical cord; it was never present in the medulla. Epidural hemorrhage of the cervical cord was seen in four of the ten examined SBS cases, but in none of the control cases. Based on the absence of DAI in the brain and of signs of generalized cervical cord or nerve root injuries, we conclude that the cause of death in the SBS victims was a global cerebral ischemia secondary to SDH, focal vasospasm, trauma-induced transitory respiratory and/or circulatory failure.

No abstract