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10:30
A Piglet Model of Neonatal Hypoxic-Ischemic Encephalopathy
Published on: May 16, 2015
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
Evangelos Pavlou1, Persephone Augoustides-Savvopoulou, Niels Gregersen
12nd Paediatric Department, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece. eepav@yahoo.gr
Journal of Child Neurology
|July 19, 2012
Summary
Ethylmalonic encephalopathy is a rare metabolic disorder. Early diagnosis through genetic testing is crucial for infants presenting with neurological symptoms and skin lesions.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Ethylmalonic encephalopathy (EE) is a rare inherited metabolic disorder.
- Early diagnosis and intervention are critical for managing EE and improving patient outcomes.
Observation:
- A 4-month-old infant presented with petechial skin lesions and acrocyanosis.
- The infant later developed encephalopathy, hypotonia, and altered consciousness.
Findings:
- Initial investigations ruled out infection and showed normal bone marrow and coagulation.
- Urinary organic acid and acylcarnitine profiles indicated ethylmalonic encephalopathy.
- Genetic analysis confirmed EE by identifying mutations in the ethylmalonic encephalopathy 1 (ETHE1) gene.
Implications:
- This case highlights the importance of considering inborn errors of metabolism in infants with unexplained neurological and dermatological symptoms.
- Molecular diagnosis using ETHE1 gene analysis is essential for confirming ethylmalonic encephalopathy.
- Timely diagnosis can guide appropriate management strategies for patients with ethylmalonic encephalopathy.
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