RESUMO
Biallelic SPINT2 pathogenic variants cause a syndromic form of congenital diarrhea and enteropathy (OMIM 270420). To date, 35 patients have been reported and all presented with additional extra-intestinal features, apart from one case. We report on a 5-year-old girl who presented early in life with diarrhea and was found to have a novel homozygous variant in SPINT2. Pathological studies confirmed tufting enteropathy, and during her 5 years of life, she has not developed any extra-intestinal features. Molecular analysis detected a homozygous variant (NM_021102.4: c.203A>G (p. [Tyr68Cys]) in SPINT2. This is the first missense variant reported in the first Kunitz domain (KD1) of SPINT2 in humans. In vitro functional studies of this variant confirmed the deleterious effect leading to the loss of inhibitory activity of the intestinal serine proteases. This is the first description of SPINT2-related diarrhea in a patient who lived without long-term total parenteral nutrition. This study expands the clinical and molecular characteristics of SPINT2-related conditions.
Assuntos
Diarreia , Glicoproteínas de Membrana , Humanos , Feminino , Pré-Escolar , Glicoproteínas de Membrana/genética , Diarreia/genética , Diarreia/congênito , Intestinos , Mutação de Sentido Incorreto/genética , Serina EndopeptidasesRESUMO
Intramural duodenal haematoma is a rare complication of endoscopic biopsy. Though other causes such as blunt abdominal trauma are more common, it remains a rare problem in paediatric population. In this article, we report a patient who developed intramural duodenal haematoma following an endoscopic biopsy that was performed to look for evidence of gut graft versus host disease.
Assuntos
Duodenopatias , Humanos , Criança , Duodenopatias/complicações , Duodeno/patologia , Biópsia/efeitos adversos , Hemorragia Gastrointestinal/complicações , Hematoma/complicaçõesRESUMO
Cystic biliary atresia (BA) is a rare but an important type of BA. An antenatally detected cystic lesion at the porta hepatis raises the suspicion of cystic BA. It is very important to differentiate this from choledochal cyst in infants with cholestasis and cystic lesions. This case report outlines the clinical presentation and radiological findings of an infant who had an antenatally detected intra-abdominal cystic mass, thought to be a choledochal cyst.
