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

Authors

DOI:

https://doi.org/10.20344/amp.23093

Keywords:

Amino Acid Metabolism, Inborn Errors, Brain Diseases, Metabolic, Glutaryl-CoA Dehydrogenase, Infant, Hematoma, Subdural/therapy

Abstract

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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References

National Organization for Rare Diseases. Glutaric aciduria type I. 2023. [cited 2024 Jul 08]. Available from: https://rarediseases.org/rare-diseases/glutaricaciduria-i/.

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, et al. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. J Inherit Metab Dis. 2023;46:482-519.

Pinto LP, Câmara B, Florindo C, Loureiro RS, Jardim I, Sousa C, et al. Glutaric acidemia type 1: diagnosis, clinical features, and outcome in a Portuguese cohort. Endocr Metab Immune Disord Drug Targets. 2024;16:27.

Boy N, Mengler K, Heringer-Seifert J, Hoffmann GF, Garbade SF, Kölker S. Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. Genet Med. 2021;23:13-21.

Woelfle J, Kreft B, Emons D, Haverkamp F. Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall. Pediatr Radiol. 1996;26:779-81.

Boy N, Mohr A, Garbade SF, Freisinger P, Heringer-Seifert J, Seitz A, et al. Subdural hematoma in glutaric aciduria type 1: high excreters are prone to incidental SDH despite newborn screening. J Inherit Metab Dis. 2021;44:1343-52.

Hou LC, Veeravagu A, Hsu AR, Enns GM, Huhn SL. Glutaric acidemia type I: a neurosurgical perspective. Report of two cases. J Neurosurg. 2007;107:S167-72.

Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR. Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review. Forensic Sci Med Pathol. 2015;11:405-15.

Vester ME, Visser G. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr. 2016;175:1001-6.

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Published

2025-08-01

How to Cite

1.
Marques L, Lipari Pinto P, Loureiro Cadilha H, Janeiro P, Gaspar A. Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management. Acta Med Port [Internet]. 2025 Aug. 1 [cited 2025 Dec. 5];38(8):496-501. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/496-501

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Case Report