Pseudohypoparathyroidism Ia with Evans syndrome.
Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a rare disease, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To our knowledge, no cases of Evans syndrome have been observed associated with pseudohypoparathyroidism 1a.
Pavone
Piero
P
Department of Paediatrics, University of Catania, Catania, Italy.
Praticò
Andrea Domenico
AD
Castellano-Chiodo
Danilo
D
Ruggieri
Martino
M
D000744:Anemia, Hemolytic, Autoimmune / Q000150:complications* / Q000503:physiopathology; D002675:Child, Preschool; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000503:physiopathology; D006801:Humans; D008297:Male; D011547:Pseudohypoparathyroidism / Q000150:complications* / Q000503:physiopathology; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications* / Q000503:physiopathology; D013577:Syndrome