Cargando…

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

BACKGROUND: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We...

Descripción completa

Detalles Bibliográficos
Autores principales: De Simone, Luciano, Capirchio, Laura, Roperto, Rosa Maria, Romagnani, Paola, Sacchini, Michele, Donati, Maria Alice, de Martino, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205155/
https://www.ncbi.nlm.nih.gov/pubmed/30103768
http://dx.doi.org/10.1186/s13052-018-0530-9
_version_ 1783366155687165952
author De Simone, Luciano
Capirchio, Laura
Roperto, Rosa Maria
Romagnani, Paola
Sacchini, Michele
Donati, Maria Alice
de Martino, Maurizio
author_facet De Simone, Luciano
Capirchio, Laura
Roperto, Rosa Maria
Romagnani, Paola
Sacchini, Michele
Donati, Maria Alice
de Martino, Maurizio
author_sort De Simone, Luciano
collection PubMed
description BACKGROUND: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O(2) desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative. Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms. CONCLUSIONS: In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.
format Online
Article
Text
id pubmed-6205155
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-62051552018-10-31 Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report De Simone, Luciano Capirchio, Laura Roperto, Rosa Maria Romagnani, Paola Sacchini, Michele Donati, Maria Alice de Martino, Maurizio Ital J Pediatr Case Report BACKGROUND: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O(2) desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative. Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms. CONCLUSIONS: In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future. BioMed Central 2018-08-13 /pmc/articles/PMC6205155/ /pubmed/30103768 http://dx.doi.org/10.1186/s13052-018-0530-9 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
De Simone, Luciano
Capirchio, Laura
Roperto, Rosa Maria
Romagnani, Paola
Sacchini, Michele
Donati, Maria Alice
de Martino, Maurizio
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title_full Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title_fullStr Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title_full_unstemmed Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title_short Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
title_sort favorable course of previously undiagnosed methylmalonic aciduria with homocystinuria (cblc type) presenting with pulmonary hypertension and ahus in a young child: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205155/
https://www.ncbi.nlm.nih.gov/pubmed/30103768
http://dx.doi.org/10.1186/s13052-018-0530-9
work_keys_str_mv AT desimoneluciano favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT capirchiolaura favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT ropertorosamaria favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT romagnanipaola favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT sacchinimichele favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT donatimariaalice favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport
AT demartinomaurizio favorablecourseofpreviouslyundiagnosedmethylmalonicaciduriawithhomocystinuriacblctypepresentingwithpulmonaryhypertensionandahusinayoungchildacasereport