Fetal left ventricular noncompaction XXXX and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.

@entity1143 @entity71126 @entity844 @entity712 @entity296 @entity1 @entity39316 @entity4 @entity262 @entity209 @entity36252 @entity393 @entity2383
UNASSIGNED: We report a fetal case with fatal outcome having a novel mutation in the @entity36252 gene, coding the beta-subunit of the mitochondrial trifunctional protein. Parents had a previous @entity393 due to @entity712 and @entity4 . The next pregnancy led to left ventricular noncompaction and increasing @entity1143 after 29 gestational weeks. The fetus was small for gestational age, and long bones were abnormally short. The baby was born severely asphyxiated at 32 gestational weeks by cesarean section. Intensive care was withdrawn due to failure to thrive and suspicion of a severe @entity2383 . Postmortem brain MRI suggested microcephaly with a simplified gyral pattern. The lateral cerebral ventricles were normal. Chromosome analysis was normal (46, XX). Fibroblasts cultured from a skin biopsy of the baby revealed the large homozygous deletion @entity71126 in the @entity36252 gene, and heterozygous mutations were detected in both parents. The deletion has not been reported earlier. CONCLUSION: It is important to differentiate systemic @entity209 from disorders that affect only the cardiac muscle. @entity39316 is a relatively rare disorder of the @entity844 b-oxidation cycle. The mutation in the @entity36252 gene causes a @entity262 with early-onset @entity296 . Understanding the molecular genetic defect of the @entity1 allows appropriate genetic counseling of the family. What is Known:     @entity2383 as a group are an important etiology for fetal @entity296 including @entity1 trifunctional protein (TFP) disorders and several other @entity2383 . What is New:     We report a fetal case with fatal outcome having a novel mitochondrial trifunctional protein mutation ( @entity71126 in the @entity36252 gene).
