Congenital chloride diarrhoea

Abstract

Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.

Prenatal diagnosis of congenital chloride diarrhea: A case report

“…The contents of the distal small intestinal cavity generally show high signals on the T1W sequence, and the intensity is consistent with meconium. [7][8][9] After ultrasound examination, this case showed polyhydramnios and intestinal dilation, making it difficult to make a definite diagnosis. A further MRI was performed using a Siemens Magnetom Skyra 3.0T MRI scanner using the sequence T2 weighted half-Fourier acquisition single-shot turbo-spin-echo (HASTE), T2 weighted true steady-state precession rapid imaging (TrueFISP), and T1 weighted multiecho water and fat separation imaging (Dixon).…”

Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso

“…El contenido de intestino delgado distal en general muestra señales hiperintensas en la secuencia T1W, correspondiente a la presencia de meconio. [7][8][9] En este caso, el examen por ultrasonido mostró polihidramnios y dilatación intestinal lo que dificultó el diagnóstico definitivo. Se realizó una RM con un equipo Siemens Magnetom Skyra 3.0T.…”

Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea

“…By a literature review performed on PUBMED and EMBASE, the effect of butyrate therapy has been reported in 18 CLD patients so far ( 4 , 8 , 10 , 12 , 14 , 16 – 19 ) ( Table 2 ). Just one patient was successfully treated by a step-up therapeutic approach, whereas to the other 17 patients butyrate therapy was administered starting with 100 mg/kg/day and they presented conflicting responses, and a possible genotype dependent response has been suggested ( 4 , 8 ).…”