Subject(s)
Abnormalities, Multiple/genetics , Eyelids/abnormalities , Finger Phalanges/diagnostic imaging , Hand Deformities, Congenital/genetics , Intellectual Disability/genetics , Limb Deformities, Congenital/genetics , Metacarpus/diagnostic imaging , Microcephaly/genetics , Tracheoesophageal Fistula/genetics , Adult , Asian People/genetics , Eyelids/pathology , Female , Fertilization in Vitro , Fingers/abnormalities , Hand Deformities, Congenital/diagnostic imaging , Humans , Infant , Intellectual Disability/classification , Intellectual Disability/diagnosis , Intellectual Disability/pathology , Limb Deformities, Congenital/classification , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/pathology , Male , Microcephaly/classification , Microcephaly/diagnosis , Microcephaly/pathology , Polydactyly/diagnostic imaging , Polydactyly/genetics , Sequence Deletion , Thumb/abnormalities , Tracheoesophageal Fistula/classification , Tracheoesophageal Fistula/diagnosis , Tracheoesophageal Fistula/pathologyABSTRACT
Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.
ABSTRACT
Round pneumonia is a disease commonly recognized in the pediatric age group, especially under the age of 8 years. Streptococcus pneumoniae is the most common agent causing this characteristic type of pneumonia. We herein report a case of a 6-year-old boy with only mild cough and low-grade fever who was then diagnosed with round pneumonia due to Chlamydia pneumoniae. He had multiple round opacities in the right lower lung field, and the symptoms subsided soon after oral administration of antibiotics.
