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Silvia Sequeira1; Ana Cristina Ferreira1; Helena Flores2; Daniela Amaral3

1- Unidade de Doenças Metabólicas, Área Pediatria Médica, Hospital Dona Estefânia, CHLC
2- Unidade de Gastrenterologia, Área Pediatria Médica, Hospital Dona Estefânia, CHLC
3- Unidade de Endocrinologia, Área Pediatria Médica, Hospital Dona Estefânia, CHLC

- Poster no XI Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas,  Porto, 19 a 20 de Março de 2015

Background: Elucidating the etiology of failure to thrive sometimes represents a challenge for paediatricians. Associated with short stature, pigmentary retinopathy and involvement of other organs it suggests a multisystemic disease namely a mitochondrial disorder.
Case report: We describe a 14-year-old boy with a history of one year of progressive night blindness. He also presented for the last six years failure to thrive, short stature treated with growth hormone, liver steatosis, moderate chronic diarrhea, hyperchromic skin lesions, nail clubbing and abdominal distension with visible venous circulation. He related beginning of symptoms at 8 years after a car accident with jejunal perforation which was followed by several surgeries for bowel obstruction. Investigations showing very low levels of cholesterol, triglyceride, β-lipoprotein and liposoluble vitamins, pigmentary retinopathy and liver steatosis could suggest the diagnosis of a/hypobetalipoproteinemia with secondary malnutrition. Skin lesions were diagnosed as frinoderma. A short term treatment with liposoluble vitamins showed a dramatic improvement of his vision and weight. The duodenal biopsy however did not corroborate the diagnosis and a careful evaluation of previous investigations showed he also had persistent mesenteric adenomegalies, retroperitoneal fibrosis and high IgG4 levels. Owing to the difficulty in performing biopsies of the mesenteric ganglia due the several abdominal surgeries and a previous diagnosis of adhesive peritonitis we decided to perform immunohistochemical stains in pending specimens which showed over 50% of IgG4 positive plasmocytes, in esophagus confirming the hypothesis of an IgG4 related disorder (IgG4-RD).
Commentaries: IgG4-RD disease, a newly established multisystemic disease, like mitochondrial disorders and CDG, can affect virtually every organ. The pancreas and hepatobiliary tract are commonly involved. IgG4 has been postulated to have a role in tolerance to allergens and in responses to infections or trauma. The hallmarks of IgG4-RD are lymphoplasmacytic tissue infiltration with increased IgG4-positive plasma cells usually accompanied by fibrosis and high serum levels of IgG4. We believe that in our patient trauma, due to the accident or to following surgeries, could be the triggering factor in this case that we present as metabolic disorders are also frequently multisystemic and metabolic physicians many times have a role in the differential diagnosis.

Palavras Chave: IgG4-RD disease, failure to thrive, short stature, pigmentary retinopathy