Cor Triatriatum Dexter Associated with an Ostium Primum Atrial Defect and Left-Sided Opening of the Coronary Sinus in a Stillborn Fetus.

Cor triatriatum is a very rare cardiac malformation characterized by the presence of an abnormal interatrial membrane separating either the left or right atrial chamber into two compartments. It can be associated with other cardiac defects and is often symptomatic in childhood. The signs depend on the size and position of the interatrial membrane and other associated malformations. Here we report a case of right-sided cor triatriatum associated with an ostium primum-type interatrial septum defect and left-sided opening of the coronary sinus in a fetus. The cause of intrauterine death was asphyxia due to total placental abruption.

Association of HTTLPR, BDNF, and FTO Genetic Variants with Completed Suicide in Slovakia.

Since suicide and suicidal behavior are considered highly heritable phenotypes, the identification of genetic markers that can predict suicide risk is a clinically important topic. Several genes studied for possible associations between genetic polymorphisms and suicidal behaviors had mostly inconsistent and contradictory findings. The aim of this case-control study was to evaluate the associations between completed suicide and polymorphisms in genes BDNF (rs6265, rs962369), SLC6A4 (5-HTTLPR), and FTO (rs9939609) in relation to sex and BMI. We genotyped 119 completed suicide victims and 137 control subjects that were age, sex, and ethnicity matched. A significant association with completed suicide was found for BDNF rs962369. This variant could play a role in completed suicide, as individuals with the CC genotype were more often found among suicides than in control subjects. After sex stratification, the association remained significant only in males. A nominally significant association between the gene variant and BMI was observed for BDNF rs962369 under the overdominant model. Heterozygotes with the TC genotype showed a lower average BMI than homozygotes with TT or CC genotypes. FTO polymorphism (rs9939609) did not affect BMI in the group of Slovak suicide completers, but our findings follow an inverse association between BMI and completed suicide.

Undiagnosed cryptococcal meningoencephalitis with extensive hypoxic-ischemic brain injury mimicking grade 3 diffuse axonal injury.

In this article, we report the autopsy findings of a 50-year-old immunocompetent woman, who was hospitalized with an altered state of consciousness. Examinations, including cerebrospinal fluid analysis, carried out during hospitalization failed to identify the infectious agent causing progressive loss of consciousness and quadriparesis. The patient died within 8 days of admission to the hospital. Post-mortem microscopic and culture examination revealed Cryptococcus species. Death was attributed to cryptococcal meningoencephalitis. Histologic examination revealed accumulation of cryptococcus mimicking erythrocytes and extensive hemorrhage in hematoxylin and eosin-stained sections of the brain. Multifocal obliteration of the vascular bed by yeast was accompanied by hypoxic-ischemic brain injury mimicking traumatic diffuse axonal injury.

Secondary pulmonary hypoplasia associated with calcified Meckel´s diverticulum with osseous metaplasia.

In this paper, we report autopsy findings of a 1-day old full-term mature female neonate with pulmonary hypoplasia diagnosed postnatally. Death was attributed to acute respiratory failure due to hyaline membrane disease. We describe pathological features of calcified Meckels diverticulum with osseous metaplasia and inflammatory changes in adjacent peritoneum. As far as we know, this case report documents the youngest patient ever diagnosed with calcified Meckels diverticulum with osseous metaplasia.

Incidental idiopathic focal sclerosing mesenteritis in a 4-month-old child.

Sclerosing mesenteritis is a rare non-cancerous disease affecting the small bowel mesentery, which occurs predominantly in older age. The exact etiology is not known. Clinical symptoms are very variable and they include abdominal pain and distention, nausea, and vomiting. We present a case of a 4-month-old boy, who died suddenly at home. Based on the investigation of the circumstances of death, results of toxicology tests and histological examination the case was concluded as sudden infant death syndrome. During life, the child had repeated abdominal pain with distention. Secondary autopsy finding was a significant thickening of terminal ileum mesentery the length of 2,5 cm, with thickness reaching up to 1,5 cm and affecting almost half the circumference of the small intestine. According to the current literature, the case discussed in this article is the youngest recorded.

Redistribution of acute traumatic infratentorial subdural hematoma to the spinal subdural space.

Spinal subdural hematoma is a rare and potentionally life-threatening condition associated with trauma and other pathological conditions. In this paper we report the autopsy findings of a 64 year old male who was repeatedly hospitalized with traumatic head injuries in the past. In this case spinal subdural hematoma was diagnosed post-mortem and later comfirmed by ante-mortem CT scan revaluation. Keywords: intracranial subdural hematoma - recurrent spinal subdural hematoma - diffuse axonal injury - autopsy findings.

Sudden death associated with syndromic craniosynostosis.

In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis. The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene. Crouzon syndrome is a genetic disorder characterized by premature fusion of the cranial bone sutures resulting in distinctive malformations of the craniofacial region.

[Intracardial fungal multiplication of order Mucor in an almost totally carbonised part of a male body found after ten days missing]. / Intrakardiálne pomnozenie plesní rodu Mucor v takmer totálne uhorenom torze tela muza po 10 dnoch od jeho zmiznutia.

Determination of time of death belongs to the most difficult and also the most important issues for the medical examiners, especially those who deal with violent death. Besides the most frequently evaluated postmortal changes it is sometimes possible to perform the evaluation on the basis of less frequently observed findings. One of such findings is for example the fungal multiplication on the body or in the very close vicinity. Knowledge of moulds as well as information about their speed of growth should contribute to confirmation or negation of some information gained during police investigation. In this case report authors describe the macroscopically visible fungal intracardiac multiplication in heart chambers and aorta in an almost totally carbonised body which was missing for only ten days. Based on the molecular examination it was detected that the body belonged to the 64-year-old man who was repeatedly hospitalised in psychiatry for depression with suicidal tendencies. The last hospitalisation was six weeks before death and there was no organic disability. The cause of fire was a naked flame. The cause of death was burn injury or asphyxia. The almost total carbonisation did not allow to perform toxicological investigation. By histological investigation we found the presence of wide long non-septate moulds growing in the heart muscle, which belonged to the order Mucor. Since there was no obvious inflammatory response, we suppose their growth started on the congealed blood after death.

[Traumatic pseudoaneurysm of descendent thoracic aorta solved by aortal stentgraft repair followed by development of fatal aortoesophageal fistula]. / Traumatická pseudoaneuryzma descendentnej torakálnej aorty riesená aortálnym stentgraftom s následnou fatálnou aortoezofageálnou fistulou.

Traumatic pseudoaneurysms are relatively frequently mentioned in textbooks of pathology and forensic medicine but their incidence in pathological reports is seldom documented. Our described case presented a patient who suffered from chronic alcoholism and who was repeatedly hospitalised because of various injuries including epidural and subdural hematomas. We present a case of a 69-year-old man who was hospitalised after nonspecific blunt chest injury with chest pain and dysphagia. By computed tomography the traumatic pseudoaneurysm of the descendent thoracic aorta was diagnosed pressing the oesophageal wall which was solved by implantation of aortal stent graft (TEVAR - thoracic endovascular aortic/aneurysm repair). Since after the implantation there was no blood leak, no progression of the lesion, he was soon discharged from hospital. The patient was hospitalised again after two months for newly developed haemoptysis. On suspicion of bleeding from aortal arch a carotid-carotid bypass from right to left side was performed and then re-TEVAR was implanted proximally to the first one. The man died two days following the implantation after a massive bleeding from oesophagus due to aortoesophageal fistula. The presented case deals with the etiology of the development of pseudoaneurysms, histomorphological picture of pseudoaneurysm resembling not only an isolated thoracic aortitis but slightly also the Takayashu disease. We suppose that in this case the most probable cause of necrosis and perforation of aortal wall was a decubital necrosis caused by stent graft which led to the fatal aortoesophageal necrosis. Aortoesophageal fistula belongs to the most common lethal complications of the TEVAR.

[Unusual lung finding of massive alveolar filling with foamy macrophages in congenital epidermolysis bullosa after amnion fluid aspiration in 15-day-old newborn without any clinical signs of respiratory impairment]. / Neobvyklý plúcny nález masívneho vyplnenia alveolov penovitými makrofágmi pri kongenitálnej epidermolysis bullosa po aspirácii súcastí plodovej vody u novorodenca prezívajúceho 15 dní bez akýchkolvek príznakov poskodenia dýchacích funkcií.

Epidermolysis bullosa represents a group of mechanobullous diseases which are most commonly genetically determined. We describe the case of a 15-day-old female newborn with congenital epidermolysis bullosa which was inflicted on aproximately 1/3 of her skin surface, who died because of incorrigible sepsis with multiorgan failure. The main topic of our report is a description of an unusual pulmonary finding of massive alveolar filling with foamy macrophages after amnion fluid aspiration, which contained a excessive amount of desquamated epidermal cells. Introduced case shows outstanding discrepancy of negative clinical finding on one side and massive histopathological finding on the other.

[Undiagnosed Whipple's disease with a lethal outcome]. / Nediagnostikovaná Whippleova choroba s letálnym koncom.

Whipples disease is a rare multisystem disease caused by rod-shaped bacteria Tropheryma whipplei. Although it affects all age groups, the typical patient is a middle-aged white man. The clinical signs are very heterogeneous and depend on the stage of the disease. The most common is abdominal manifestation characterized by weight loss, disability, chronic diarrhea and abdominal pain. Untreated Whipples disease is almost always fatal. We describe probably the first published case of undiagnosed Whipples disease with a lethal outcome in Slovakia, occuring in a 33-year old white man with involvement of the gastrointestinal tract, abdominal lymphatic nodes and brain, who died of bronchopneumonia.