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CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 3  |  Page : 205-207

Cardiac arrest and ventricular tachycardia in a newborn with carnitine–Acylcarnitine translocase deficiency


1 Department of Pediatrics (MBC-58), King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
2 King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Saleh Al-Alaiyan
Department of Pediatrics (MBC-58), King Faisal Specialist Hospital and Research Centre, P. O. Box: 3354, Riyadh 11211
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_52_19

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We report a female infant who was diagnosed to have carnitine–acylcarnitine translocate deficiency (CACTD) and developed ventricular tachycardia followed by cardiac arrest. Following full feeding, the infant developed significant bradycardia, hypothermia, hypotonia, hypoglycemia, metabolic acidosis, and hyperammonemia. The hyperammonemia was successfully treated with continuous renal replacement therapy (CRRT). One day after the CRRT, she developed ventricular tachycardia that was refractory to medical treatment and synchronized cardioversion. She had cardiac arrest that was unresponsive to full cardiopulmonary resuscitation and died. Raising high index of suspicion of CACTD in the deferential diagnosis of infants present with sudden deterioration, hypoglycemia or hyperammonemia is crucial for early recognition and providing appropriate treatment in this highly lethal disorder.


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