RESUMO
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation (c.1201G > A) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.
RESUMO
Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.
