Pheochromocytoma and sudden death as a result of cerebral infarction in Turner's syndrome: report of a case

Various etiologies for hypertension in Turner's syndrome, a common feature of the disorder, are well recognized. Pheochromocytoma is not among them. A young woman with Turner's syndrome, recently diagnosed with hypertension, died suddenly and unexpectedly. A hemorrhagic cerebral infarct and an adrenal gland pheochromocytoma were found at necropsy. This is the first reported case of pheochromocytoma associated with Turner's syndrome.     

Sudden death from hyponatremia and hypokalemia in a woman with Gardner syndrome.

The authors present the case of a 39-year-old woman with Gardner syndrome who died from marked hyponatremia and hypokalemia. Gardner syndrome is a rare variant of the familial adenomatous polyposis syndrome in which the affected individual develops thousands of polyps within the gastrointestinal tract, with a 100% risk of eventual malignant change. Individuals with Gardner syndrome also develop a variety of extra gastrointestinal abnormalities. In the case presented, a woman with a clinical history of Gardner syndrome who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, fever, diarrhea, and abdominal pain. The symptoms were considered clinically to be due to a viral gastroenteritis. She was admitted to the hospital, where she had episodes of collapse believed to be vasovagal in origin. She suffered a cardiorespiratory arrest and died 24 hours after admission. After her death, electrolyte estimation performed on blood taken shortly before death revealed severe hyponatremia and hypokalemia. Postmortem examination showed the gastric mucosa to be virtually covered by innumerable adenomatous and hyperplastic polyps. Fewer polyps were seen within the small bowel. There was no evidence of malignancy. The features were consistent with Gardner syndrome. Hyponatremia and hypokalemia have been described in patients with villous adenomas and in familial adenomatous polyposis syndromes associated with numerous colonic polyps. The cause of death in this case was considered to be hyponatremia and hypokalemia associated with florid gastric polyps in a woman with Gardner syndrome. Viral gastroenteritis contributed to the death by causing further electrolyte depletion. To the best of the authors' knowledge, death in Gardner syndrome has not been described as attributable to such metabolic disturbance, in particular in those who have only gastric, small bowel, and rectal polyps remaining after total colectomy.     

Fatal case of Rapunzel syndrome in neglected child

Rapunzel syndrome is very extreme form of trichobezoar formation where the tail of the trichobezoar extends from the stomach into the small intestine. Death resulting from this condition is rare and is usually associated with gastric or intestinal perforation. We report a fatal case of Rapunzel syndrome in a 3 years and 10 months old girl. Review of the literature indicates that this case involves the youngest child to have died from this syndrome. Furthermore, this case is unique due to the clear association with the parent's neglect with failure to provide the child with adequate health care.     

Risk factors for violent offending in autism spectrum disorder: a national study of hospitalized individuals

Little is known about risk factors for violence among individuals with autism spectrum disorder (ASD). This study uses data from Swedish longitudinal registers for all 422 individuals hospitalized with autistic disorder or Asperger syndrome during 1988-2000 and compares those committing violent or sexual offenses with those who did not. Thirty-one individuals with ASD (7%) were convicted of violent nonsexual crimes and two of sexual offenses. Violent individuals with ASD are more often male and diagnosed with Asperger syndrome rather than autistic disorder. Furthermore, comorbid psychotic and substance use disorders are associated with violent offending. We conclude that violent offending in ASD is related to similar co-occurring psychopathology as previously found among violent individuals without ASD. Although this study does not answer whether ASDs are associated with increased risk of violent offending compared with the general population, careful risk assessment and management may be indicated for some individuals with Asperger syndrome.     

Sudden unexpected death in a patient with splenic sequestration and sickle cell-beta+-thalassemia syndrome

Acute splenic sequestration crisis is a rare disorder that usually occurs in children, with sickle cell anemia, who are under the age of five years. A few cases have been described in adults with heterozygous sickle cell syndromes. Though this entity can be fatal there have been no reported cases associated with sudden death. We describe a case of sudden, unexpected death, associated with splenic sequestration, in a 29-year-old African-American man with undiagnosed sickle cell-beta-thalassemia syndrome.     

Fatal hypokalemic thyrotoxic periodic paralysis presenting as the sudden, unexplained death of a Cambodian refugee.

For the last decade, death investigators have been aware of an unexplained syndrome of sudden death occurring among young adult Southeast Asian refugees. Presented here is a rare instance of fatal hypokalemic periodic paralysis associated with thyrotoxicosis masquerading as the sudden, unexplained death of a Cambodian refugee. The usual features of this syndrome were present, including relatively occult thyrotoxicosis, paralysis upon awakening following a high-carbohydrate meal, and hypokalemia. This case illustrates the value of thorough background death investigation and also illustrates the potential of misinterpreting traditional folk medicine coin rubbing (Cao Gio) as signs of physical abuse.     

Cardiovascular Conditions and the Evaluation of the Heart in Pregnancy‐Associated Autopsies

Abstract: Pregnancy‐associated death is defined as the death of a woman from any cause during pregnancy or in the year after delivery. This review concentrates on cardiac conditions that may result in pregnancy‐associated death including, but not limited to, acute myocardial infarction, endocarditis, peripartum cardiomyopathy, and prolonged QT syndrome. Lethal vascular conditions may also occur involving arterial dissection and thromboembolism, on occasion exacerbated by hypercoagulability, and altered hormonal and physiologic states. The autopsy evaluation of these patients includes a careful assessment of the medical history particularly for prior pregnancy‐related conditions, fetal loss, and episodes of unexplained collapse. A family history of sudden death at an early age may be significant. At autopsy, evaluation for underlying syndromes such as Marfan, or evidence of intravenous narcotism should be undertaken. Autopsy examination involves careful dissection of the heart and vessels with consideration of conduction tract studies and possible genetic evaluation for prolonged QT syndrome.     

The Forensic Implications of Turner's Syndrome

Turner's syndrome, the most common sex chromosome disorder of females, is caused by complete or partial loss of one X chromosome and is associated with a wide range of internal and external manifestations and increased mortality rates (three to nine times the background population). While individuals with Turner's syndrome may survive for many decades, premature and unexpected deaths can occur that bring decedents to the attention of forensic examiners. Causes of death in Turner's syndrome are often linked to underlying cardiovascular conditions such as aortic dissection, congenital cardiovascular disease, ischemic heart, and cerebrovascular disease, but deaths due to noncardiac causes also occur with increased frequency. The latter include epilepsy, diabetes mellitus, chronic renal disease, pneumonia, chronic liver disease, and malignancy. Thus, the autopsy evaluation of these cases requires careful examination of all major organ systems, with the consideration of confirmatory cytogenetic testing.     

An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature

The present report describes the unexpected death of a 6-month-old female infant who had been clinically diagnosed with Joubert syndrome. This is a relatively rare congenital neurological disorder characterized by hypoplasia/aplasia of cerebellar vermis, which transmits information from the body to the cerebellum, and is associated with respiratory dysfunction, abnormal eye movements, and developmental delay. The infant was found dead in bed and the immediate cause of death was determined as aspiration of vomit which may have been induced by a neurological disorder related to hypoplasia of the cerebellar vermis. These findings, together with a review of previous clinical case reports, suggest that Joubert syndrome should be considered as a predisposition to sudden unexpected death in infants mainly due to aspiration or complicated infection.     

Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wiedemann syndrome (BWS) who was born prematurely and died suddenly in the hospital just before being discharged. BWS is a malformation syndrome associated with an increased risk of childhood tumors. The major features of BWS are macroglossia, abdominal wall defects, and visceromegaly, frequently leading to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (termed incomplete penetrance), the risk of delayed diagnosis is evident. Secondary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, and if not anticipated, adequate measures for prevention of hypoglycemic episodes may be delayed, resulting in possible intellectual deficits. The infant presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asphyxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their relevance to medicolegal examination and the causes and manner of death.     

A comparison of respiratory symptoms and inflammation in sudden infant death syndrome and in accidental or inflicted infant death

Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.     

Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency.

A case of sudden death associated with fatty liver and encephalopathy is described in a 4-year old white boy with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. The death was caused by hypoglycemia triggered by fasting and vomiting associated with a minor viral infection. The differential diagnosis of the hepatoencephalopathy is discussed in relation to other conditions, especially Reye's syndrome. The forensic pathologist should be familiar with MCAD and other deficiencies of beta-oxidation of fatty acids as a cause of sudden unexpected death in children in order to advise parents in genetic counseling to prevent disability or death of other affected, but still asymptomatic siblings.     

Incidence of Low Body Mass Index in the Elderly in Forensic Cases—A Possible Marker for Frailty Syndrome?

Diagnosing frailty syndrome at autopsy may be difficult if no adequate clinical history is provided. As low body mass index (BMI) may be associated with frailty in the elderly, the following study was undertaken to determine the percentage of medicolegal cases with BMIs < 18.5 in decedents aged over 75 years. Review was undertaken over three time periods: January to December 1986, January to December 2006, and January to December 2012. In 1986, 16% (15 of 93) of individuals aged ≥75 years had BMIs < 18.5, in 2006, 15% (50 of 336), and in 2012, 13% (35 of 274). In no case was frailty syndrome mentioned. This study demonstrates that frailty syndrome appears to be an underappreciated diagnosis in forensic practice despite a significant percentage of elderly decedents (13–16% over a 27‐year period) having low BMIs. Prospective assessment of this group is required to determine the incidence and contribution to mortality of frailty syndrome in a forensic context.     

Three unusual neuropathologic-related causes of sudden death

We discuss the autopsy findings of three medico-legal cases of sudden death associated with uncommon neuropathologic findings of which the general forensic pathologist may not be familiar. Case 1 was a 43-year-old man who died of a seizure due to malignant melanoma of the temporal lobe associated with neurocutaneous melanosis (NCM). Case 2 was a 57-year-old woman with a history of mental retardation and incoordination because of chronic lead poisoning, who died of a pulmonary thromboembolism due to deep venous thrombosis status post left leg fracture after a fall down a staircase. Autopsy revealed atrophy and gliosis of her cerebellum as a result of childhood lead poisoning. The third patient was a 75-year-old woman who died as a result of acute bacterial leptomeningitis at the cervico-medullary junction with acute inflammation of the connective tissue of her upper cervical spinal column associated with subluxation of her atlantoaxial (AA) joint, also known as Grisel's syndrome.     

Fatal postpartum spontaneous liver rupture: case report and literature review

Maternal hepatic rupture is a rare complication of pregnancy that can be fatal to both mother and child. This phenomenon is most often associated with preeclampsia/eclampsia and/or HELLP syndrome, which is defined by a collection of clinical features including hemolysis (H), elevated liver enzymes (EL), and a low platelet count (LP). These disease processes are typically identified and treated during pregnancy, often in the last trimester. The described case is unusual in that the decedent had no known history of preeclampsia/eclampsia or HELLP syndrome during this pregnancy, and she died suddenly several days postpartum of liver rupture with massive intraperitoneal hemorrhage following a routine cesarean section delivery and an uneventful hospital course. Similar cases are infrequent in the literature, which is reviewed in this report.     

Acallosal brain in sudden infant death syndrome (SIDS).

A definitive explanation of "crib" or "cot" death remains unknown. An unusual incidental autopsy finding of agenesis of the corpus callosum in a case presenting as "near miss" sudden infant death syndrome (SIDS) is discussed. Hitherto, only a single case associated with SIDS has been reported in the literature. The condition may be easily missed outside the interest in neuropathology.     

Labeling for oral and rectal over-the-counter drug products containing aspirin and nonaspirin salicylates; Reye's Syndrome warning. Final rule

The Food and Drug Administration (FDA) is issuing a final rule to amend its regulations to revise the Reye's syndrome warning required for oral and rectal over-the-counter (OTC) human drug products containing aspirin and to require a warning on OTC drug products containing nonaspirin salicylates as active ingredients. The revised warning will inform consumers of the symptoms of Reye's syndrome and advise that aspirin and nonaspirin salicylate drug products should not be given to children or teenagers who have or are recovering from chicken pox or flu-like symptoms. This final rule also finalizes FDA's notice of proposed rulemaking to require a Reye's syndrome warning for orally administered OTC drug products for relief of symptoms associated with overindulgence in food and drink (overindulgence drug products) that contain bismuth subsalicylate that published in the Federal Register of May 5, 1993 (58 FR 26886). FDA is issuing this final rule after considering public comment on the agency's notices of proposed rulemaking and all relevant data and information that have come to the agency's attention.     

Fat embolism syndrome associated with atraumatic compartment syndrome of the bilateral upper extremities: An unreported etiology

Fat embolism syndrome (FES) is a potentially life-threatening condition that develops when fat embolism leads to clinical symptoms and multisystem dysfunction. The classic triad of respiratory distress, neurologic symptoms, and petechial rash are non-specific, and the lack of specific laboratory tests makes the diagnosis of FES difficult. Although FES is most common after long bone fractures, multiple conditions some of which are atraumatic have been associated with the development of FES. We report a case of FES that occurred in the setting of a non-traumatic compartment syndrome of the upper extremities. The pathologic and clinical findings, pathophysiology, diagnostic challenges, and pathologic methods to properly diagnose FES are discussed with a review of the relevant literature. This case highlights the importance of the autopsy in making a diagnosis of FES in cases where death could otherwise be incorrectly attributed to multi-organ system failure, shock, or sepsis.     

Association for Methodology and Documentation in Psychiatry Profiles Predict Later Risk for Criminal Behavior and Violent Crimes in Former Inpatients with Affective Disorder*

Abstract: Few studies have investigated criminal and violent behavior in patients with affective disorders. We reviewed the national crime register for records of criminal offenses committed by 1561 patients with affective disorders and studied the predictive value of certain psychopathological symptoms assessed with the Association for Methodology and Documentation in Psychiatry (AMDP) system concerning future criminal behavior. Sixty‐five (4.2%) patients had been convicted in the 7–12 years after discharge (307 cases). Patients with the AMDP syndrome mania had a significantly higher risk for later criminal behavior. The combination with the hostility syndrome further increased the risk. These findings are in line with previous data indicating a higher risk for later criminal behavior in patients with a manic/bipolar disorder compared to depressive disorder. As previously demonstrated in another sample of schizophrenic patients, the AMDP syndromes mania (and hostility) is associated with a higher risk of later criminal behavior.     

A deadly anti-SIDS device

The diagnosis of sudden infant death syndrome (SIDS) has been an enigma to medical examiners and coroners for decades. The recent drastic decrease in the number of SIDS cases has been associated with infants sleeping supine instead of prone. The apparent relation between sleeping position and SIDS has led to the marketing of several positioning sleep aids. We report a case of the improper use of one such device which resulted in the death of an infant.