Atypical/Mysterious Presentation of Hypoammonemia in CAVA-Deficient Neonate: A Case Report
Background
This case report presents a rare manifestation of carbonic anhydrase (CAVA) deficiency in a neonate, challenging the typical metabolic profile associated with this condition.
Case presentation
A single female preterm born to 3rd-degree consanguineous parents exhibited severe metabolic acidosis, hypoxemia, and shock but notably lacked hyperammonemia, which is an apparently obligatory sign of CAVA deficiency. The baby’s clinical course was complicated by respiratory distress, sepsis, neutropenia, and pulmonary haemorrhage, leading to a fatal outcome at 47 hours of life. Investigations including blood sugars, serum ammonia, and liver function tests provided atypical findings. The case has been managed symptomatically. Clinical exome sequencing revealed a homozygous missense mutation in the CA5A gene.
Conclusions
The case underscores the need for a deeper understanding of CAVA deficiency pathogenesis and suggests the possibility of variant presentations, even in severe cases. This report aims to broaden the clinical spectrum associated with CAVA deficiency and encourage further research into its varied presentations.
DOI: 10.29245/2578-2940/2025/4.1176 View / Download Pdf