A Practical Forensic Approach to Fatal Pediatric Endocrinopathies

Abstract

Of all of the organ systems in clinical medicine, the endocrine system is among the most difficult to master since it requires a detailed and knowledgeable integration of many of the body's separate systems. In forensic pathology, the evaluation of a sudden unexplained death can be challenging depending upon the particular disease processes and the organ systems that are affected. It is therefore not surprising that the investigation of sudden unexplained deaths involving the endocrine system can be particularly daunting. This review attempts to focus upon three of the major endocrine/metabolic conditions that may be potentially life-threatening and fatal in the pediatric population-hypoglycemia, adrenal insufficiency, and hyperthyroidism-and to provide forensic pathologists with a practical strategy for working up these cases. By adopting a more focused and selective approach to pediatric endocrine conditions rather than an exhaustive and comprehensive study of them, it is the intention of this review to make these disorders more manageable conceptually and to optimize the chance of arriving at a decisive and ultimately accurate postmortem diagnosis.

Fatal Rotavirus Infection in a 4-Year-Old with Unsuspected Autoimmune Adrenal Insufficiency

“…At autopsy, the adrenal glands in autoimmune AI can be normal-sized, atrophic, or nearly unidentifiable. Other common causes of primary AI in children include traumatic adrenal hemorrhage, adrenal hemorrhage due to infection (i.e., Waterhouse-Friderichsen Syndrome), thrombosis from antiphospholipid antibody syndrome, direct infection of the gland (e.g., tuberculosis), X-linked adrenoleukodystrophy, and other congenital syndromes (7, 13). However, these etiologies do not cause atrophy of the adrenals.…”

“…If antemortem samples are available for testing, then these electrolyte derangements could be confirmed (2, 12). Adrenocorticotropic hormone concentrations and plasma renin activity can also be measured on antemortem samples, and should both be elevated in primary AI (7). In the case presented, no antemortem samples were available for testing.…”

“…Skin hyperpigmentation, often thought of CASE OF THE MONTH as a classic sign of primary AI, may be absent in up to one third of patients (and was absent in the presented case). Hyperkalemia is also absent in up to 50% of children and usually only mild when present (1,7). One study that examined children with non-CAH primary AI found a delay in diagnosis of up to 0.5-5 years, and 25% of these children presented in frank adrenal crisis (8).…”