A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.

Glycosylphosphatidylinositol biosynthesis defect 15 is a rare autosomal recessive disorder due to biallelic loss of function of GPAA1. At the moment, less than twenty patients have been reported, usually compound heterozygous for GPAA1 variants. The main clinical features are intellectual disability, hypotonia, seizures, and cerebellar atrophy. We describe a 4-year-old male with a novel, homozygous variant. The patient presents with typical features, such as developmental delay, hypotonia, seizures, and atypical features, such as macrocephaly, preauricular, and cheek appendages. When he was 15 months, the cerebellum was normal. When he was 33 months old, after the molecular diagnosis, magnetic resonance imaging was repeated, showing cerebellar atrophy. This case extends the clinical spectrum of the GPAA1-related disorder and helps to delineate phenotypic differences with defects of other subunits of the transamidase complex.

Echocardiographic diagnosis of coronary artery fistula in both dizygotic twin brothers: environmental mechanism?

A congenital coronary artery fistula (CAF) is a rare form of heart disease in which a coronary artery and a cardiac chamber or another vascular structure communicate. CAF could worsen ventricular perfusion and function, favoring ventricular ischemia and arrhythmias. To our knowledge, this is the first report of CAF, draining in the pulmonary artery, in two asymptomatic dizygotic twin brothers, diagnosed by echocardiography. Dizygotic twins are siblings with different genes exposed to the same environmental experience during the pregnancy. The occurrence of CAF (with similar instrumental findings) in both twin brothers could depend on a poorly identified environmental factor during pregnancy.

Functional gastrointestinal disorders in children: an Italian prospective survey.

OBJECTIVES: To assess the prevalence and natural history of functional gastrointestinal disorders (FGIDs) in children using the Rome Criteria. METHODS: Thirteen primary care pediatricians were randomly selected from the Campania region of the Italian National Health Service. Each pediatrician completed a detailed FGID questionnaire on consecutive patients seen during a 3-month period. A total of 9660 patients aged birth to 12 years were enrolled prospectively during this 3-month period. Follow-up was performed at 1-, 3-, and 12-month intervals. RESULTS: A total of 194 children initially met strict criteria for at least 1 FGID. A total of 72 (37.1%) children had infant regurgitation, 26 (13.4%) had functional dyspepsia, 27 (13.9%) had irritable bowel syndrome, and 66 (34.1%) had functional constipation or other defecation disorders. All children who had a diagnosis of FGIDs were reevaluated at 1, 3, and 12 months to study the natural history of the illnesses. Additional evaluation revealed 5 children who had developed an organic diagnosis. Therefore, 5 (2.5%) of 194 children who had a diagnosis of FGIDs by the Rome criteria had a change in diagnosis to an organic disease during the study period, none of whom experienced permanent sequelae. CONCLUSIONS: Of 194 children who received a prospective diagnosis of FGIDs using the Rome criteria, 97.5% continued to satisfy the diagnostic criteria or were improved at follow-up. The low prevalence of functional dyspepsia and irritable bowel syndrome in our population is most likely explained by the lack of adolescents in our sample.