At present she is aged four years. Abdominal distension gradually improved but diarrhea persisted. Case n°2: The patient was a male infant, born from consanguineous parents at 35 weeks of gestation by cesarean section. [latunisiemedicale.com]

Hydramnios was present in every case and no meconium was observed; intrauterine onset of diarrhoea is thus apparent. [ncbi.nlm.nih.gov]

• Diarrhea

  Colonic electrolyte transport in health and in congenital chloride diarrhea. J Clin Invest. 1975 Aug;56(2):302–310. [PMC free article] [PubMed] [Google Scholar] KELSEY WM. Congenital alkalosis with diarrhea. [ncbi.nlm.nih.gov]

  Pediatr Res 12: 82–86 CrossRef PubMed CAS Google Scholar Holmberg C (1981) Congenital Na-diarrhea: a new type of secretory diarrhea (Abstr). Pediatr Res 15: 1179 Google Scholar Holmberg C, Perheentupa J (1980) Congenital chloride diarrhea (CCD). [link.springer.com]

  Since the age of three years, she presented abdominal distension in addition to diarrhea. Congenital chloride diarrhea was suspected but we couldn’t dose fecal electrolyte concentrations in Tunisia so we analyzed the SLC26A3 gene. [latunisiemedicale.com]

• Failure to Thrive

  They presented later with failure to thrive and usually had hypochloraemia, hypokalaemia, and metabolic alkalosis associated with hyperaldosteronism. [ncbi.nlm.nih.gov]

  Aust Paediatr J 8: 187–190 PubMed CAS Google Scholar Davidson GP, Cutz E, Hamilton JR, Gall DG (1978) Familial enteropathy: a Syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. [link.springer.com]

• Abdominal Distension

  His weight is currently to the average but abdominal distension and diarrhea persist despite oral Nacl and Kcl replacement. [latunisiemedicale.com]

• Vomiting

  The infant was admitted at 2 months, 5 months, 16 months and 20 months of age because of vomiting, diarrhea with a frequency of 6-8 times daily and fever. [latunisiemedicale.com]

• Hyponatremia

  Am J Dis Child 88: 344–347 CAS Google Scholar Kleinschmidt-DeMasters BK, Norenberg MD (1981) Rapid correction of hyponatremia causes demyelination: relation to central pontine myelinolysis. [link.springer.com]

Treatment with proton pump inhibitors for 4 months was ineffective. At present she is aged four years. Abdominal distension gradually improved but diarrhea persisted. [latunisiemedicale.com]

Adequate treatment consists of full continuous replacement of the faecal losses of water, NaCl, and KCl. This should be given intravenously in the early neonatal period; later a solution can be taken orally with meals. [ncbi.nlm.nih.gov]

Schweiz Med Wochenschr 108: 995–999 PubMed CAS Google Scholar Brocklehurst JR, Walker AC (1978) Cholestyramine in treatment of congenital Chloride diarrhoea. [link.springer.com]

Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas. J Neurooncol. 2015 Aug;124(1):33-43. doi: 10.1007/s11060-015-1812-3. Epub 2015 May 27. PubMed PMID: 26015296. [fr.ap-hm.fr]

Acta Endocrinol (Copenh) 55: 1–9 CAS Google Scholar Pearson AJG, Sladen GE, Edmonds CJ, Tavill AS, Wills MR, Mclntyre N (1973) The pathophysiology of congenital chloridorrhea. [link.springer.com]

The pathophysiology of congenital chloridorrhoea. Q J Med. 1973 Jul;42(167):453–466. [PubMed] [Google Scholar] Bremer D, Heinisch HM. Bilanzuntersuchungen bei einem Säugling mit congenitaler Chloriddiarrhoe. [ncbi.nlm.nih.gov]

Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications. Neoplasia. 2015 Jan;17(1):55-65. doi: 10.1016/j.neo.2014.10.010. [fr.ap-hm.fr]

This therapy prevents the renal lesions and the retarded growth and psychomotor development which were seen in the children who were diagnosed late and in those who received inadequate replacement therapy. [ncbi.nlm.nih.gov]