Glycogenosis: when a metabolic disease explains cases of suspected child abuse and medical malpractice

Introduction: The death of a child without previous clinical symptoms or post-mortem macroscopic findings opens up different perspectives, such as child neglect and abuse, medical malpractice or Sudden Infant Death Syndrome. In similar cases, only histological examination and a careful reconstruction of physio-pathologic mechanisms could allow a diagnosis of cause of death and consequently resolve the judicial aspects. Glycogenosis is a genetic pathology caused by the deficiency of an enzyme involved in the glycogenic methabolism that affects primarily liver, skeletal muscle and heart. In neonatal and infantile forms, glycogenosis leads to death within the first year of life; in juvenile and adult form, glycogenosis may be asymptomatic or may cause only muscular clinical features (muscle fatigue, exercise intolerance or cramps). Materials and methods: the authors report the post-mortem findings and histological results of two babies found died by parents in their bed; in the first case, the baby was four months old and a child abuse was prospected, such as the shaken baby syndrome, because of bloodstains on his face and ear. In the second case, the baby was two months old and healthy at the paediatrician examination three days before. Results: in both cases the post-mortem examination has shown a common congestion of the organs, cardiac and pulmonary petechiae and hepatomegaly; the histology has shown multiple foci of pulmonary intra-alveolar haemorrhage; hepatocytes, PAS-positive, are characterized by cytoplasmic glycogen storage and a cell membrane distension with peripheral displacement of organelles. The diagnosis of glycogenosis is confirmed by genetic analysis on samples taking during the autopsy. Conclusions: in either cases, glycogenosis brings to death without previous symptoms that could lead to a diagnosis. Glycogen storage diseases, such as other metabolic diseases, should be considered as a differential diagnosis with Sudden Infant Death Syndrome and child abuse.