Sudden death of an infant with cardiac, nervous system and genetic involvement – a case report

Abstract

We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement. Previously considered quite healthy, the child died suddenly and unexpectedly during sleep. The autopsy protocol included an in-depth anatomopathological examination of both the autonomic nervous system and the cardiac conduction system, and molecular analysis of the serotonin transporter gene promoter region, in which a specific genetic condition seems to be associated with sudden infant death. Histological examination revealed the presence of congenital cardiac alterations (hypertrophic cardiomyopathy and an accessory Mahaim fiber in the cardiac conduction system), severe hypodevelopment of all the raphe nuclei and a heterozygous genotype L/S related to the serotonin transporter gene. The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788

Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome

“…In another case report, a sudden death of a 1 month old male infant while asleep was reported who was apparently healthy before the demise. This case was attributed to a combination of unavoidable events of congenital cardiac alterations, neuropathological alterations in brainstem and mutation in transporter gene (156). A case report on SIDS victim two female infants who were sisters as well, revealed a homozygous L2HGDH gene mutation.…”

“…A case of sudden death of 1 month old male infant was reported by Donatella Mecchia et al (156), attributing the death to cardiac, nervous system and genetic involvement. Polymorphism in serotonin transporter gene 5-HTT was observed (156).…”

“…A case of sudden death of 1 month old male infant was reported by Donatella Mecchia et al (156), attributing the death to cardiac, nervous system and genetic involvement. Polymorphism in serotonin transporter gene 5-HTT was observed (156). In another case report, a genetic analysis of 104 sudden cardiac death related genes was performed through Next Generation Sequencing (NGS).…”

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

“…A total of 20 original research studies [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30] and seven case reports [31][32][33][34][35][36][37] thus met the inclusion criteria for the review, which included at least one infant greater than 1-year-old in their study (►Table 1). One of the seven case reports, however, 34 was also represented in one original research article. 13 The remaining articles (n ¼ 12) had cohorts of individuals older than 1 year old only.…”

The mesencephalic nucleus of the trigeminal nerve and the SIDS

“…The most significant alterations observed in the brains of SIDS or sudden intrauterine undefined death syndrome (SIUDS) cases are insufficient development of the brainstem and cerebellum, two brain regions critical for modulating critical survival functions such as respiration, heartbeat, digestion, and arousal [1,2]. This is characterized by delayed maturation at the cerebellar ventricular (ependymal) and bulbar level and apoptosis in the hippocampus and dorsal brainstem nuclei [3].…”