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Citrullinemia with an atypical presentation: persistent hiccups. Case report

Halil Degirmencioglu1, Mehmet Yekta Oncel1, Sadik Yurttutan2

  • 1División de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Turquía.

Archivos Argentinos De Pediatria
|September 6, 2014
PubMed

Insights

A newborn developed severe encephalopathy and coma within 3 days, initially suspected to be nonketotic hyperglycinemia. Diagnosis was confirmed as argininosuccinic acid synthetase deficiency (citrullinemia), a metabolic disorder.

Area of Science:

  • Biochemistry
  • Neonatology
  • Genetics

Background:

  • Encephalopathy in neonates presents a diagnostic challenge.
  • Inborn errors of metabolism can manifest with neurological symptoms and hiccups.

Observation:

  • A neonate presented with encephalopathy and persistent hiccups within 72 hours of life.
  • Initial sepsis workup and CSF analysis were unremarkable.

Findings:

  • Metabolic evaluation revealed hyperammonemia and hypercitrullinemia.
  • Normal CSF/plasma glycine ratio excluded nonketotic hyperglycinemia.
  • Argininosuccinic acid synthetase deficiency (ASD; citrullinemia) was diagnosed.

Implications:

  • Neonatal onset ASD should be considered in the differential diagnosis of encephalopathy with hiccups.
  • Early identification of metabolic disorders is crucial for timely intervention.
  • This case highlights the importance of comprehensive metabolic screening in neonates with unexplained neurological symptoms.

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