ABSTRACT
Eosinophilic gastroenteritis (EGE) can occur throughout the gastrointestinal tract, from the stomach to the colon. Typical known symptoms are abdominal pain, nausea, vomiting, and diarrhea. In addition, lesions in the intestinal mucosa may cause weight loss, protein-losing enteropathy (PLE), and other problems. A 6-month-old girl with no previous medical history was brought to our hospital after an afebrile 1-min clonic seizure. Blood tests showed low concentrations of serum calcium and albumin. After the correction of hypocalcemia with gluconic acid, there was no recurrence of seizure. Technetium-99m scintigraphy showed slight leakage of protein from the intestinal tract, which led us to conclude that the hypocalcemia and hypoalbuminemia were caused by PLE. Gastrointestinal endoscopy and biopsy performed to detect the cause of PLE revealed the presence of EGE. After starting administration of an amino acid-based formula, gastrointestinal symptoms of diarrhea or vomiting did not reappear. The serum albumin concentration normalized, and her weight gain improved. We report the first case of EGE in an infant who was diagnosed based on seizure. This case shows that infants with EGE may present with seizure resulting from hypocalcemia caused by PLE.
Subject(s)
Enteritis , Eosinophilia , Gastritis , Hypocalcemia , Protein-Losing Enteropathies , Humans , Infant , Female , Hypocalcemia/complications , Hypocalcemia/diagnosis , Hypocalcemia/drug therapy , Protein-Losing Enteropathies/complications , Vomiting/etiology , Seizures/complications , Diarrhea/complicationsSubject(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.
