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Neonatal death/cot death

Specialties > Child health

Differential Diagnosis Schema 🧠

Sudden Infant Death Syndrome (SIDS)

  • SIDS: Sudden, unexplained death of an infant under 1 year of age; often occurs during sleep with no apparent signs of distress or prior illness.
  • Risk Factors: Prone sleeping position, exposure to tobacco smoke, prematurity, and male gender.
  • Protective Factors: Breastfeeding, use of a pacifier, and ensuring the infant sleeps on their back.

Infectious Causes

  • Sepsis: May present with fever, poor feeding, irritability, and lethargy before sudden deterioration; consider in neonates with risk factors such as premature rupture of membranes or maternal infection.
  • Pneumonia: Can present with respiratory distress, cyanosis, and poor feeding; commonly bacterial or viral in origin.
  • Meningitis: Presents with fever, irritability, bulging fontanelle, and seizures; requires urgent treatment to prevent mortality.
  • Congenital Infections: Infections such as CMV, toxoplasmosis, and syphilis may cause intrauterine growth restriction and early neonatal death.

Cardiac Causes

  • Congenital Heart Defects: Critical conditions such as hypoplastic left heart syndrome, transposition of the great arteries, or severe coarctation of the aorta may present with cyanosis, heart failure, or sudden death.
  • Arrhythmias: Sudden onset of arrhythmias can lead to sudden death; may be associated with long QT syndrome or other inherited conditions.
  • Cardiomyopathy: Can lead to heart failure and sudden death; may be idiopathic or secondary to metabolic or genetic disorders.

Respiratory Causes

  • Airway Obstruction: Aspiration, laryngomalacia, or tracheomalacia can lead to sudden respiratory compromise and death.
  • Bronchiolitis: Severe cases, particularly in premature infants, can cause respiratory failure; commonly caused by RSV.
  • Pulmonary Hemorrhage: Rare, but can present with sudden onset of respiratory distress and bloody secretions; associated with severe prematurity or congenital conditions.

Metabolic and Genetic Causes

  • Inborn Errors of Metabolism: Disorders such as urea cycle defects, fatty acid oxidation disorders, or glycogen storage diseases can lead to sudden metabolic crises and death.
  • Congenital Adrenal Hyperplasia: Can cause salt-wasting crisis in neonates, leading to shock and death if untreated.
  • Genetic Syndromes: Conditions like Prader-Willi or Beckwith-Wiedemann syndrome can predispose to neonatal death due to associated complications.

Key Points in History 🥼

Symptomatology

  • Preceding Symptoms: Ask about any preceding symptoms such as fever, respiratory distress, feeding difficulties, or lethargy, which may provide clues to the underlying cause.
  • Sleep Environment: In cases of SIDS, inquire about the sleep position, bedding, and room temperature; prone sleeping and overheating are known risk factors.
  • Family Observations: Determine if any unusual movements, sounds, or color changes were noted before death; this may help differentiate between different causes.
  • Timing and Circumstances: The time of day, recent feeds, and the infant’s behavior before being put to bed can provide important context.
  • Resuscitation Attempts: Document any resuscitative efforts made by the caregivers or medical personnel, including timing and effectiveness.

Background

  • Antenatal History: Review antenatal care, maternal health, and any complications during pregnancy that might increase the risk of neonatal death.
  • Birth History: Document the mode of delivery, gestational age, birth weight, and any neonatal complications such as jaundice, infections, or congenital anomalies.
  • Family History: Inquire about any family history of genetic disorders, sudden infant death, or congenital heart defects.
  • Social History: Assess the living conditions, parental smoking or substance use, and any social stressors that might contribute to an unsafe sleep environment.
  • Previous Infant Deaths: A history of previous infant deaths in the family raises the possibility of genetic or environmental factors contributing to risk.

Possible Investigations 🌡️

Post-Mortem Examination

  • Autopsy: Essential for determining the cause of neonatal death; includes a thorough examination of all organ systems, histopathology, and toxicology.
  • Genetic Testing: Consider if there is a suspicion of an underlying genetic disorder or metabolic condition; may include karyotyping or specific gene panels.
  • Microbiological Cultures: Perform cultures from blood, cerebrospinal fluid, and other sterile sites to identify possible infectious causes.
  • Metabolic Screening: Post-mortem screening for inborn errors of metabolism may be indicated if there are suggestive clinical features.
  • Immunohistochemistry: May be used to assess for specific infections or markers of metabolic diseases that are not apparent on routine histology.

Investigations in Surviving Siblings

  • Genetic Testing: Consider for surviving siblings if a genetic disorder is identified or suspected in the deceased infant.
  • Cardiac Screening: Echocardiography and ECG may be indicated if there is a family history of congenital heart disease or arrhythmias.
  • Metabolic Screening: Conduct for siblings if an inborn error of metabolism is suspected in the deceased infant.
  • Environmental Assessment: Review the living conditions, sleep environment, and parental behaviors that may increase the risk of SIDS in surviving siblings.

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Child health