PMC6207980_01
The infant at the age of 11 months.
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Figure 1. Further investigation showed a mild congenital heart atrial septal defect, while hospital discharge was not feasible because of an unsafe living environment due to the low socioeconomic and educational status of the family and parents' feeling of insecurity.
The infant at the age of 15 months.
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The combination of signs and symptoms consisting of intractable diarrhea present from birth, failure to thrive, through enteral nutrition, persistent facial and hair dysmorphic features (Figure 2) and elevated liver enzymes led to genetic testing (targeted Sanger sequencing:Sequencage direct de la region codante du gene SKIV2L [direct sequencing of the gene coding region SKIV2L]) which was positive for homozygous deletion of 29 nucleotides, p.Glu1038 fs*7 (c.3112_3140del), in exon 25 of the SKIV2L gene leading to a frameshift of the open reading frame (ORF) while being negative for a potential
MutationTaster.
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The infant was finally diagnosed with the THE as he was homozygous for an autosomal recessive mutation of the SKIV2L gene (MutationTaster:Figure 3). The diagnosis was made at the age of 2 years.
PMC6207980_02
The infant at the age of 21 months.
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The use of an enteric elemental formula failed to improve diarrhea and body weight. The results with TPN were more promising in regard to weight gain (Figure 4).