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Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria
- Source :
- JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021), JIMD Reports
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of possible medical causes including coagulation, hematologic, metabolic and other genetic disorders, as well as witnessed and unwitnessed accidental injuries. Case Presentation We present a 7‐month‐old male with spells and incidental findings of bilateral subdural hematomas, retinal hemorrhages, and secondary macrocephaly, leading to investigation for NAT. Biochemical analysis showed excretion of a large amount of D‐2‐hydroxyglutaric in urine consistent with a biochemical diagnosis of D‐2‐hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by developmental delay, epilepsy, hypotonia, and psychomotor retardation. None of these symptoms were present in our patient at the time of diagnosis. Molecular genetic testing revealed a pathogenic splice site variant (c.685‐2A>G) and a variant of uncertain significance (c.1256G>T) with evidence of pathogenicity in the D2HGDH gene, consistent with a molecular diagnosis of D‐2‐hydroxyglutaric aciduria type I (OMIM #600721). Conclusion Since several metabolic disorders, including D‐2‐hydroxyglutaric aciduria type I, can present solely with symptoms suggestive of NAT (subdural and retinal hemorrhages), an early metabolic evaluation by urine organic acid analysis should be included in clinical protocols evaluating NAT. A methodical and nonjudgmental approach coordinated between pediatricians and metabolic specialists is also necessary to ensure that rare genetic conditions are not overlooked to prevent devastating social, legal, and financial consequences of suspected child abuse.
- Subjects :
- Pediatrics
medicine.medical_specialty
subdural hematomas
lcsh:QH426-470
shaken baby syndrome
Endocrinology, Diabetes and Metabolism
Case Report
Case Reports
Biochemistry, Genetics and Molecular Biology (miscellaneous)
lcsh:Diseases of the endocrine glands. Clinical endocrinology
D‐2‐hydroxyglutaric aciduria
Epilepsy
Internal Medicine
medicine
Medical diagnosis
retinal hemorrhages
lcsh:RC648-665
Psychomotor retardation
business.industry
Macrocephaly
medicine.disease
Subdural Hematomas
Hypotonia
nonaccidental trauma
lcsh:Genetics
urine organic acids
Concomitant
medicine.symptom
business
Urine organic acids
Subjects
Details
- Language :
- English
- ISSN :
- 21928312
- Volume :
- 58
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- JIMD Reports
- Accession number :
- edsair.doi.dedup.....83d361e0068b27f46132bfdcbc5d2ad9