Korean J Leg Med.  2015 Aug;39(3):67-72. 10.7580/kjlm.2015.39.3.67.

Determining the Cause of Natural Death: A Case of Previously Unknown Sturge-Weber Syndrome

• Kim MY
• Kim H
• Park S
• Yang K
• Park SH
• Lee SD

• KMID: 2044951
• DOI: http://doi.org/10.7580/kjlm.2015.39.3.67

Abstract

In some cases, it is difficult to determine a single cause of death even after conducting full autopsy and additional tests. A 49-year-old man, reportedly having diabetes mellitus, was found unconscious by his mother and revealed to be dead. He had several contusions all over his body, including the right periocular area, but they did not appear fatal. A focal area of polymicrogyria and cortical dysplasia was found on the right preoccipital notch, accompanied with dystrophic calcification and leptomeningeal angiomatosis. These findings were considered indicative of Sturge-Weber syndrome, a rare neurocutaneous disorder, of atypical type without facial lesions. Blood level of beta-hydroxybutyrate was 859 microg/mL, implying that he also had diabetic ketoacidosis. His ketoacidosis may not have been corrected appropriately because of status epilepticus in association with brain lesion, resulting in his death, but neither direct evidence nor statement was obtained. In cases with several apparent causes of death, the examiner's assumption should be based not on imagination but on evidence, and logic should not be overlooked. It is more helpful for the investigators or the bereaved to obtain more detailed information rather than come to a hasty conclusion.

Keyword

Cause of death; Sturge-Weber syndrome; Diabetic ketoacidosis; Beta-hydroxybutyrate

MeSH Terms

3-Hydroxybutyric Acid
Angiomatosis
Autopsy
Brain
Cause of Death
Contusions
Diabetes Mellitus
Diabetic Ketoacidosis
Humans
Imagination
Ketosis
Logic
Malformations of Cortical Development
Middle Aged
Mothers
Neurocutaneous Syndromes
Research Personnel
Status Epilepticus
Sturge-Weber Syndrome*
3-Hydroxybutyric Acid

Figure

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  Fig. 1. (A) Cerebral cortex of the right preoccipital area shows microgyria and cortical atrophy with mild congestion in leptomeninges. (B) Cut surface shows leptomeningial hypertrophy and cortical atrophy which is locally restricted.

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  Fig. 2. Brain cortex shows severe dystrophic microcalcification combined with leptomeningial angiomatosis (A) which includes thickened vascular wall due to hyalinization (B). (C) Microcalcification was also found in the vascular wall of brain cortex parenchyme. (D) In the adjacent area of the lesion, there was no definite atrophy but cortical dysplasia was present, without normal development of horizontal six layers (A and D, H&E, ×40; B, H&E, ×100; C, H&E, ×200).

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