RESUMO
BACKGROUND: Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption. Hartnup disease is an autosomal recessive disorder caused by increased urinary excretion of neutral amino acids. Co-occurrence of Hartnup disease and CD is extremely rare with only a single case reported. CASE PRESENTATION: We report a 3-year girl with chronic diarrhea, Hypoalbuminemia and exfoliative erythema. She was diagnosed with celiac disease, which did not improve on gluten free diet. Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement. CONCLUSION: Presence of Celiac and Hartnup disease in single individual is very rare. Complete nutritional assessment of refractory celiac patient can reveal underlying nutritional deficiency.
Assuntos
Doença Celíaca/complicações , Dermatite Esfoliativa/etiologia , Diarreia/etiologia , Doença de Hartnup/complicações , Hipoalbuminemia/etiologia , Pré-Escolar , Doença Crônica , Eritema/etiologia , Feminino , Humanos , Niacina/deficiência , Niacina/uso terapêutico , Complexo Vitamínico B/uso terapêuticoRESUMO
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Palestinian girl with EE who presented with chronic diarrhea, encephalopathy, petechial rash and acrocyanosis. Subsequently, she developed progressive deterioration of renal function caused by rapidly progressive glomerulonephritis resulting in death within few days. This is, to our knowledge, the first reported occurrence of rapidly progressive glomerulonephritis in a child with ethylmalonic encephalopathy. Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage.
Assuntos
Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/metabolismo , Glomerulonefrite/complicações , Glomerulonefrite/metabolismo , Malonatos/metabolismo , Púrpura/complicações , Púrpura/metabolismo , Encefalopatias Metabólicas Congênitas/patologia , Consanguinidade , Exantema/etiologia , Evolução Fatal , Feminino , Glomerulonefrite/patologia , Humanos , Lactente , Rim/patologia , Falência Renal Crônica/complicações , Falência Renal Crônica/metabolismo , Mutação/genética , Mutação/fisiologia , Síndrome Nefrótica/complicações , Linhagem , Proteinúria/etiologia , Proteinúria/metabolismo , Púrpura/patologiaRESUMO
A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.
