Intestinal lymphangiectasia with protein losing enteropathy, toxic copper accumulation and hypoparathyroidism.
A 13-year-old girl presented with malabsorption which was ascribed to intestinal lymphangiectasia. Three years later a generalised seizure resulted from hypocalcaemia that was shown to be due to hypoparathyroidism during investigation of which toxic copper accumulation was recognised. The chance occurrence of three rare conditions is extremely remote making intestinal lymphangiectasia likely as the primary pathology. It is suggested that chronic intestinal loss of the copper-carrying caeruloplasmin resulted in toxic parathyroid deposition of copper leading to hypoparathyroidism with consequent hypocalcaemic seizure.
O'Donnell
D
D
Division of Nephrology, Johannesburg Hospital, South Africa.
Myers
A M
AM
D000293:Adolescent; D003300:Copper / Q000378:metabolism* / Q000506:poisoning; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000209:etiology*; D008201:Lymphangiectasis, Intestinal / Q000150:complications*; D008286:Malabsorption Syndromes / Q000209:etiology; D011504:Protein-Losing Enteropathies / Q000150:complications* / Q000209:etiology*
D003300:Copper