Postmorterm Computed Tomography and Autopsy to Confirm Sudden Death Due to Tracheal Compression by Mediastinal Fat Tissue in a Young Man With Obesity.

A man in his early twenties with obesity was found dead in his apartment. The deceased was found naked and surrounded by empty bottles of electrolytes. An autopsy performed approximately 6 days postmortem and gross inspection revealed the absence of injury and no apparent extrinsic cause of death. It was decided to dissect to investigate the cause of death. The deceased had become morbidly obese (weight, 98 kg; height, 160 cm; body mass index, 38.3). Shortly before his death, he presented at a clinic complaining of gastric discomfort and heartburn, but other than hypertension (155/91 mmHg) no specific abnormality was found. He was normothermic (36.6℃), and his blood oxygen saturation was normal (97%). Postmortem computed tomography of the thorax revealed a mediastinal mass obstructing the trachea, an upper-airway obstruction, and a narrowed thoracic cavity due to upward compression by an enlarged fatty liver. Autopsy confirmed that the tracheal mass was fatty tissue within the thymus and that upward pressure from an enlarged fatty liver had compressed the thoracic cavity. The deceased likely developed nocturnal chronic hypoxia because of compression by the mediastinal fat mass as well as intermittent hypoxia because of obstructive sleep apnea when lying supine. Chronic and intermittent hypoxia, diabetes, and obesity activate the sympathetic nervous system, increasing the risk of hypertension, heart failure, and arrhythmias. Histological findings showed pulmonary congestion and edema, reflecting heart failure as well as myocardial fragmentation and waving, showing hyper-contraction and hyper-relaxation, respectively. Hypertension, feeling overheated, and myocardial hyper-contraction can be explained as sympathetic nerve over-activation. Intra-cardiac coagulation and a renal cortical pallor suggested subacute death from cardiogenic shock due to heart failure. Postmortem computed tomography before autopsy detected airway obstruction and revealed the cause and pathophysiology of unexpected death in a young man with morbid obesity. Therefore, this could be a potentially useful clinical practice for determining the cause of death postmortem.

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patients with EAOH have not been described. In this study, we report that EAOH patients have immunological abnormalities, including lymphopenia; decreased levels of CD4+ T-cells, CD8+ T-cells, and B-cells; hypogammaglobulinemia; low T-cell recombination excision circles and kappa-deleting element recombination circles; and oligoclonality of T-cell receptor ß-chain variable repertoire. These immunological abnormalities vary among the EAOH patients. Additionally, mild radiosensitivity in the lymphocytes obtained from the patients with EAOH was demonstrated. These findings suggested that the immunological abnormalities and mild radiosensitivity evident in patients with EAOH could be probably caused by the DNA repair defects.

Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.

OBJECTIVE: To report detail of a patient with infantile spasms whose cytogenetic analysis revealed mosaic monocentric and duplicated supernumerary marker chromosome (SMC) 15. SUBJECT AND METHODS: The subject for this case was a 13-month-old girl with infantile spasms and delayed developmental milestones. Chromosomal analysis with G-band showed the presence of SMC in mosaic. Further investigations using in situ hybridization, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), microsatellite marker, and single nucleotide polymorphism (SNP) array analysis were performed. RESULTS: Her karyotype was noted as mosaic 47,XX,+mar[26]/46,XX[4], ish der(15)(D15Z1+, SNRPN++, PML-) de novo. MS-MLPA analysis showed that the Prader-Willi syndrome/Angelman syndrome critical region is highly methylated, and microsatellite marker analysis proved that the 15q11.2 region of the patient comprises three kinds of alleles: one paternal and two maternal. SNP array analysis suggested an asymmetric structure of SMC(15) composed of 15q11-q13 recombination at breakpoint (BP) 4:BP5. CONCLUSIONS: This is the first report of SMC(15) with monocentric and duplicated proximal 15q. The clinical presentations are quite similar to those of isodicentric chromosome 15 syndrome. The results of microsatellite and SNP array analysis suggest two possibilities regarding the timing of the mosaic SMC(15) formation. One possibility is that it occurred during maternal meiosis, and the other possibility is formation during a very early stage of embryo development that was initially trisomic of chromosome 15.