Atypical/Mysterious Presentation of Hypoammonemia in CAVA-Deficient Neonate: A Case Report
Madhavi Majety1, Laasya Chowdary Nagalla2*, Shivani Ravipati2, K.P.K.N. Venkataramana3, Suryanarayana3
1Hospital for Children, Vijayawada, India.
2*Dr.Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation, Vijayawada, India.
3Nori Multi-speciality Hospital, Vijayawada, India.
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 PdfSevere Neonatal Anaemia Caused by Fetomaternal Haemorrhage with a Positive Neonatal Outcome
Deepa C M, Amitoj Singh Chhina
Department of Neonatology, Cloudnine Hospital, Old Airport Road Bengaluru, India.
Spontaneous massive fetomaternal hemorrhage (FMH) is a rare but significant cause of severe neonatal anemia, often presenting without identifiable risk factors and posing diagnostic challenges. This report describes the case of a 35-year-old G2A1 mother with an uneventful pregnancy who delivered a neonate exhibiting profound anemia and respiratory distress shortly after birth. FMH was confirmed by a Kleihauer-Betke test, revealing a significant fetal blood loss of 198 mL into the maternal circulation. Prompt intervention with packed red blood cell transfusion led to stabilization and a favorable neonatal outcome.
FMH frequently presents with nonspecific symptoms such as decreased fetal movements or neonatal anemia, emphasizing the importance of clinician vigilance. Diagnostic methods, including the Kleihauer-Betke test and flow cytometry, play a critical role in confirming FMH and guiding treatment. This case highlights the necessity of early recognition and intervention, as well as routine FMH screening in Rh-negative pregnancies and unexplained neonatal anemia, to improve maternal and neonatal outcomes. Enhanced awareness and advancements in diagnostic technologies are crucial for better management of this underrecognized condition.
DOI: 10.29245/2578-2940/2025/3.1175 View / Download Pdf