A Novel Co-Occurrence between Cerebral Sinovenous Thrombosis and Non-ketotic Hyperglycinemia in a Neonate-a Case Report

Document Type : Case Report

Authors

1 Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

2 Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Background: Cerebral venous sinus thrombosis (CSVT) is a relatively rare condition characterized by seizures, cerebral edema, lethargy, and encephalopathy. In neonates, lethargy often indicates central nervous system (CNS) dysfunction, necessitating a comprehensive evaluation for various potential diagnoses including cerebrovascular accidents, infections, and metabolic disorders. Non-ketotic hyperglycinemia (NKH) is an autosomal recessive disorder, also known as glycine encephalopathy, resulting from a deficiency in the enzyme responsible for glycine catabolism. This leads to elevated levels of glycine in the blood, urine, and cerebrospinal fluid (CSF), accompanied by severe seizures, hypotension, hiccups, apnea, and progressive lethargy, which may progress to encephalopathy or even death.
Case Report: This report presents the case of a 3-day-old neonate admitted to the hospital with opioid toxicity, displaying reduced metabolic activity. Despite initial suspicion of ketotic hyperglycemia, further investigation revealed the presence of cerebral sinus thrombosis in addition to NKH.
Conclusion: This case underscores the complexity of neonatal presentations and highlights the importance of considering multiple differential diagnoses, especially when faced with unusual or overlapping clinical features. Early recognition and appropriate management of CSVT and NKH are crucial in improving outcomes for affected neonates.
 

Keywords

References

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Iranian Journal of Neonatology
Volume 15, Issue 4
October 2024
Pages 54-58

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