Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

• Autor(a) principal: Pinto Silva, Catarina
• Data de Publicação: 2021
• Outros Autores: Almeida, Joana, Diogo, Luísa, Nobre, Susana
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.25754/pjp.2021.21564
• topic: Case reports

Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients. A six-month-old girl was referred to the emergency department due to severe cytolysis without coagulopathy, found during the investigation of a pyelonephritis. Physical examination revealed hypotonia, erratic ocular movements and an unusual distribution of subcutaneous fat. Thrombocytosis, high plasma lactate and ferritin levels, in addition to severe cytolysis, were found. Abdominal ultrasound showed normal dimensioned but hyperreflective liver and kidney cortex. Echocardiogram revealed discrete pericardium effusion. At the time of diagnosis severe cytolysis and liver steatosis were the main issues but the presence of psychomotor development delay, hypotonia and subcutaneous fat pads were the clues for a CDG suspicion. The patient is now four-years-old. Liver biopsy shows incomplete septal fibrosis, mild steatosis and glycogenated micronodules.