Compromised therapeutic value of pediatric liver transplantation in ethylmalonic encephalopathy: A case report

Figure 1 Clinical symptoms and gene sequencing analysis. A: The pre- and post-transplant scattered petechiae in the extremities and orthostatic acrocyanosis; B: Sequence electropherogram of the compound heterozygous mutation (c.375+5G>A and c.462T>A) in patient, heterozygous mutation in mother, and no mutation in father.

Figure 2 Changes of pre- and post-transplant urine organic acid profile and plasma acylcarnitine profile in the patient with ethylmalonic encephalopathy.

Figure 3 Pre- and post-transplant axial sections of brain magnetic resonance imaging scan. Before liver transplantation, brain magnetic resonance imaging shows fronto-temporal atrophy with multiple bilateral symmetrical abnormal low and high signal intensity involving caudate nucleus and lentiform nucleus in T1- and T2-weighted sections, respectively. Twenty months after transplantation, brain magnetic resonance imaging shows lesions remained but ameliorated.