Mitochondrial trifunctional protein (MTP) deficiency presenting with late-onset cardiomyopathy phenotype

Case presentation: Female, 4 years old, hospitalized for coughing and reduced level of consciousness. Physical examination revealed tachycardia, no response to stimuli, isochoric photoreactive pupils. Diagnostic hypotheses viral encephalitis myocarditis were raised after laboratory tests did not suggest sepsis. During admission the Intensive Care Unit, skull computed tomography cerebrospinal fluid normal. Anti-cytomegalovirus serum dosage IgM positive. Evolved with hemodynamic decompensation prolonged cardiorespiratory arrest, creatine phosphokinase 23.971, kinase-MB fraction 950, elevation transaminases, troponin levels 703. Post-arrest cranial resonance showed images suggestive bilateral hypoxic-ischemic white matter lesions. Due brother's history early death at 18 months due sepsis, we chose perform tandem mass spectrometry plasma acylcarnitine profile, which indicated a probable diagnosis Very Long-Chain Acyl-CoA Dehydrogenase deficiency (VLCADD) subsequent confirmation Mitochondrial Trifunctional Protein (MTP) through specific molecular genetic test. Treatment triheptanoin was initiated gradual improvement in consciousness, cognitive functions, cardiac parameters reduction muscle liver enzymes observed.