Cases reported "Sudden Infant Death"

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1/22. Failure of mouth-to-mouth resuscitation in cases of sudden infant death.

    We describe two cases of sudden infant death syndrome (SIDS) and one case of apparent life threatening apnoea where resuscitation was attempted by the mouth-to-mouth route. This was associated with evidence of gastric distension, including reflux of milk into the airway in the first two cases. In the second case the mother used mouth-to-mouth breathing after finding that she could not cover her baby's nose-and-open-mouth with her mouth. In the last case, the mother went on to try the mouth-to-nose route, with a good outcome. Systematic documentation of the route of resuscitation and its outcome in all cases of SIDS and near-miss SIDS may provide valuable insights into the optimal route for infant resuscitation.
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2/22. Cerebral reperfusion in brain death of a newborn. Case report.

    A case of "sudden infant death" after 15 minutes of successful resuscitation of cardiovascular function is presented. While apnoic cranial nerve areflexia and electrocerebral silence persisted, angiography and transcranial Doppler sonography demonstrated nearly normal cerebral perfusion, which even increased day by day inspite of the persistence of other signs of brain death. The phenomenon "cerebral reperfusion" is concluded to be compatible with the diagnosis of brain death.
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3/22. Near-miss apparent SIDS from adrenal crisis.

    OBJECTIVE: Adrenal crisis from salt-losing congenital adrenal hyperplasia (CAH) typically occurs in the first 2 weeks of life. We evaluated 3 infants with adrenal crisis who presented at 6 to 8 months of age with near-miss sudden infant death syndrome (SIDS). SUBJECTS: Three 46,XY phenotypic female infants presented near death at 6 to 8 months of age with adrenal crisis and unmeasurable steroid hormones consistent with congenital lipoid adrenal hyperplasia (lipoid CAH). methods: We sequenced genes potentially causing this phenotype: steroidogenic acute regulatory protein (StAR), the cholesterol side-chain cleavage enzyme, adrenodoxin reductase, adrenodoxin, and steroidogenic factor 1 (SF1). Site-directed mutagenesis and functional assays were performed for the missense mutation. RESULTS: Hormonal values showed complete absence of adrenal and gonadal steroids. Patient 1 was a compound heterozygote for missense mutation R140P and an mRNA splice donor site mutation in the StAR gene. The R140P mutation was wholly inactive in vitro. Patient 2 was homozygous for a 7 base pair StAR deletion causing a frameshift. No mutations were found in Patient 3, suggesting a novel disease. CONCLUSIONS: Although genetic disorders of steroidogenesis typically present in the first month of life, some defects, especially those in StAR, can present in mid-infancy, when adrenal hyperplasias are rarely considered. adrenal insufficiency is a subtle disorder that may cause cardiovascular collapse, causing unexplained infant death that resembles SIDS.
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4/22. Hyperekplexia and sudden neonatal death.

    Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. During the first 24 hours of life, spontaneous apnea and sluggish feeding effort were observed. After the first 24 hours, surviving infants exhibited the hyperekplexic startle response to nose tapping. This startle response is characterized by sudden muscular rigidity, feeding-induced oropharyngeal incoordination, and poor air exchange often with apnea, persisting with repetitive nose tapping. Untreated infants experienced recurring apnea until 1 year of age. Three of 15 patients died unexpectedly during the neonatal period. patients treated with clonazepam (0.1-0.2 mg/kg/day) had no serious apneic episodes and startle reflexes were diminished. The pathophysiologic mechanism for hyperekplexia remains obscure. Electroencephalographic studies were consistently normal. The response to and tolerance of benzodiazepines are striking in newborns and infants and suggest an aberrant central nervous system reflex as the etiology; therefore, hyperekplexia should be considered in the evaluation of neonates and infants with apnea, aspiration pneumonia, episodic muscular rigidity, hyperexcitability, and near-miss sudden infant death syndrome. The need for immediate monitoring of at-risk infants, observation for signs of hyperekplexia, and initiation of clonazepam in these patients are emphasized. Hyperekplexic startle response to nose tapping should be included in the routine examination of all newborns.
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5/22. 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.
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6/22. Perforation of the colon in neonates.

    PURPOSE: Gastrointestinal perforation is a catastrophic condition in neonates, especially in premature neonates. Although perforation is commonly observed in the small intestine during the neonatal period, perforation of the colon is a rare condition. This study analyzed the clinical findings and results of perforation of the colon in neonates. methods: Between 1989 and 2004, 8 neonates were treated for spontaneous perforation of the colon at our institute. These patients were retrospectively reviewed. RESULTS: Gestational ages ranged from 36 to 41 weeks. Seven patients weighed above 2500 g, whereas one patient weighed 1800 g at birth. Perforations developed within 7 days after birth in 6 patients and before birth in two. Associated bowel diseases included rectosigmoid type of Hirschsprung's disease in two patients, immature ganglia in one, imperforate anus in one, colonic atresia in one, and necrotizing enterocolitis in one. An obvious cause was not identified in the remaining two. Six patients without definite anatomic obstructions, such as imperforate anus or colonic atresia, required evaluations for suspected Hirschsprung's disease. All 8 patients underwent colostomy and recovered from peritonitis. Seven survived, but one died of sudden infant death syndrome. CONCLUSIONS: In this study, perforation of the colon during the neonatal period mostly occurred in term or near-term neonates and carried a good prognosis. During management, it was important to identify Hirschsprung's and its allied disorders as a cause of perforation.
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7/22. Sudden deaths and apparent life-threatening events in hospitalized neonates presumed to be healthy.

    We describe 10 apparently healthy newborns who were patients in a level 1 nursery and were found by caregivers to be limp, apneic, and requiring resuscitation. All patients were between ages 15 hours and 3 1/2 days, products of term gestations, and of appropriate weight for gestational age. Prenatal or perinatal complications were present in nine of the 10 patients; in no patient was the complication considered a risk for serious, late-onset neonatal problems. All patients had been examined by a physician and were deemed to be in good health before the apparent life-threatening event. Subsequent to the event, each patient required positive pressure ventilation and seven patients received chest compressions. Five patients died. Autopsies were performed on four of the five patients and in none was an adequate explanation for death established. Intrathoracic petechiae were found in one patient whose sibling had died of sudden infant death syndrome at age 11 weeks. Evaluation of the five survivors failed to determine a cause for the episodes. Of the five survivors, one had normal results of developmental examination at age 6 months, while the remaining four survivors had severe neurologic impairment at age 1 year. Apparent life-threatening events occur in hospitalized newborns presumed to be normal and may be a manifestation of early sudden infant death syndrome or early near-miss sudden infant death syndrome.
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8/22. Haemorrhagic shock encephalopathy syndrome.

    Haemorrhagic shock encephalopathy syndrome is a recently described condition which appears to be an important cause of infant mortality and morbidity. Six infants, with some features of this condition, admitted to Dunedin Hospital during the last three years, are presented and their diagnoses reviewed. Diagnostic overlap may occur between haemorrhagic shock encephalopathy syndrome, hypoxic-ischaemic encephalopathy and near miss sudden infant death syndrome. An investigative approach to the infant with shock and acute encephalopathy is outlined.
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9/22. 'Near miss' sudden infant death and obstructive apnoea.

    A 4 month old girl presented with a 'near miss' sudden infant death episode for which no cause was found. Obstructive sleep apnoea syndrome subsequently developed. All symptoms ceased after adenoidectomy at age 9 months.
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10/22. Preliminary note: vertebral-Doppler sonography in near sudden infant death syndrome (NSIDS).

    Using vertebral artery sonography, we investigated the influence of the position of the head on the vertebral artery bloodflow in five children, who were admitted because of NSIDS (near sudden infant death syndrome) episodes. Three out of the five children showed blocking of vertebral bloodflow determined by position of the head. This was not observed in five age-matched controls. Our preliminary observations indicate the value of noninvasive ultrasound Doppler techniques in the diagnostic work in the children with NSIDS. In this way one of the risk factors for SIDS might be identified.
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