Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

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 emergen...

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Autores principales:	Catarina Pinto Silva, Joana Almeida, Luísa Diogo, Susana Nobre
Formato:	article
Lenguaje:	EN PT
Publicado:	Sociedade Portuguesa de Pediatria 2021
Materias:	Pediatrics RJ1-570 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/a8e59ae98ab040ada7075743f71c2eba
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spelling	oai:doaj.org-article:a8e59ae98ab040ada7075743f71c2eba2021-11-04T15:21:21ZSevere Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency2184-33332184-4453https://doaj.org/article/a8e59ae98ab040ada7075743f71c2eba2021-11-01T00:00:00Zhttps://pjp.spp.pt/article/view/21564https://doaj.org/toc/2184-3333https://doaj.org/toc/2184-4453 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. Catarina Pinto SilvaJoana AlmeidaLuísa DiogoSusana NobreSociedade Portuguesa de PediatriaarticlePediatricsRJ1-570Medicine (General)R5-920ENPTPortuguese Journal of Pediatrics , Vol 52, Iss 4 (2021)
institution	DOAJ
collection	DOAJ
language	EN PT
topic	Pediatrics RJ1-570 Medicine (General) R5-920
spellingShingle	Pediatrics RJ1-570 Medicine (General) R5-920 Catarina Pinto Silva Joana Almeida Luísa Diogo Susana Nobre Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
description	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.
format	article
author	Catarina Pinto Silva Joana Almeida Luísa Diogo Susana Nobre
author_facet	Catarina Pinto Silva Joana Almeida Luísa Diogo Susana Nobre
author_sort	Catarina Pinto Silva
title	Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
title_short	Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
title_full	Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
title_fullStr	Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
title_full_unstemmed	Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
title_sort	severe hepatitis: an unusual presentation of phosphomannomutase 2 deficiency
publisher	Sociedade Portuguesa de Pediatria
publishDate	2021
url	https://doaj.org/article/a8e59ae98ab040ada7075743f71c2eba
work_keys_str_mv	AT catarinapintosilva severehepatitisanunusualpresentationofphosphomannomutase2deficiency AT joanaalmeida severehepatitisanunusualpresentationofphosphomannomutase2deficiency AT luisadiogo severehepatitisanunusualpresentationofphosphomannomutase2deficiency AT susananobre severehepatitisanunusualpresentationofphosphomannomutase2deficiency
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Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

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