Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management

Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces. We present the case of an infant with macrocephaly since birth, diagnosed with glutaric aciduria type 1 through newborn screening, who...

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Main Authors: Lúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, Patrícia Janeiro, Ana Gaspar
Format: Article
Language:English
Published: Ordem dos Médicos 2025-08-01
Series:Acta Médica Portuguesa
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Online Access:https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/23093
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author Lúcia Marques
Patrícia Lipari Pinto
Hugo Loureiro Cadilha
Patrícia Janeiro
Ana Gaspar
author_facet Lúcia Marques
Patrícia Lipari Pinto
Hugo Loureiro Cadilha
Patrícia Janeiro
Ana Gaspar
author_sort Lúcia Marques
collection DOAJ
description Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces. We present the case of an infant with macrocephaly since birth, diagnosed with glutaric aciduria type 1 through newborn screening, who exhibited accelerated cephalic growth during follow-up. At eight months of age, cranial magnetic resonance imaging revealed bilateral subdural hematomas with intracranial mass effect. The infant displayed no signs of intracranial hypertension, history of trauma, or signs of abuse. Although surgical treatment was considered, a multidisciplinary discussion led to the decision to manage conservatively with close monitoring. The patient remained clinically stable, and imaging showed a clear reduction in the dimensions of the hematomas. This case highlights that conservative management can be an effective approach for large subdural hematomas with mass effect in glutaric aciduria type 1, provided there is no associated symptomatology, thereby avoiding the risk of metabolic decompensation.
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spelling doaj-art-22973e7aaebd419985ee620de2157e1a2025-08-20T02:52:00ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07582025-08-0138810.20344/amp.23093Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative ManagementLúcia Marques0Patrícia Lipari Pinto1Hugo Loureiro Cadilha2Patrícia Janeiro3Ana Gaspar4Pediatrics Department. Hospital Beatriz Ângelo. Loures.Hereditary Metabolic Disease Reference Center. Pediatrics Department. Unidade Local de Saúde Santa Maria. Lisbon.Neurologic Imagiology Department. Unidade Local de Saúde Santa Maria. Lisbon.Hereditary Metabolic Disease Reference Center. Pediatrics Department. Unidade Local de Saúde Santa Maria. Lisbon.Hereditary Metabolic Disease Reference Center. Pediatrics Department. Unidade Local de Saúde Santa Maria. Lisbon. Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces. We present the case of an infant with macrocephaly since birth, diagnosed with glutaric aciduria type 1 through newborn screening, who exhibited accelerated cephalic growth during follow-up. At eight months of age, cranial magnetic resonance imaging revealed bilateral subdural hematomas with intracranial mass effect. The infant displayed no signs of intracranial hypertension, history of trauma, or signs of abuse. Although surgical treatment was considered, a multidisciplinary discussion led to the decision to manage conservatively with close monitoring. The patient remained clinically stable, and imaging showed a clear reduction in the dimensions of the hematomas. This case highlights that conservative management can be an effective approach for large subdural hematomas with mass effect in glutaric aciduria type 1, provided there is no associated symptomatology, thereby avoiding the risk of metabolic decompensation. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/23093Amino Acid Metabolism, Inborn ErrorsBrain Diseases, MetabolicGlutaryl-CoA DehydrogenaseInfantHematoma, Subdural/therapy
spellingShingle Lúcia Marques
Patrícia Lipari Pinto
Hugo Loureiro Cadilha
Patrícia Janeiro
Ana Gaspar
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
Acta Médica Portuguesa
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic
Glutaryl-CoA Dehydrogenase
Infant
Hematoma, Subdural/therapy
title Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
title_full Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
title_fullStr Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
title_full_unstemmed Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
title_short Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management
title_sort subdural hematoma in an infant with glutaric aciduria type 1 a case report on conservative management
topic Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic
Glutaryl-CoA Dehydrogenase
Infant
Hematoma, Subdural/therapy
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/23093
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AT hugoloureirocadilha subduralhematomainaninfantwithglutaricaciduriatype1acasereportonconservativemanagement
AT patriciajaneiro subduralhematomainaninfantwithglutaricaciduriatype1acasereportonconservativemanagement
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