[Propionic acidemia with myelination disorders of the CNS]
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Propionic acidemia, a metabolic disorder, can mimic cow milk allergy in infants, presenting with vomiting and hypotonia. Early diagnosis via organic acid testing is crucial to prevent fatal outcomes like cardiogenic shock.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
- Neonatal presentation can be nonspecific, mimicking common infant conditions.
Observation:
- A 7 1/2-week-old infant with propionic acidemia presented with vomiting and diarrhea, initially suspected as cow milk allergy.
- Clinical deterioration, including severe muscular hypotonia and failure to thrive, occurred despite dietary modifications.
- The infant ultimately died from cardiogenic shock, with propionic acidemia confirmed post-mortem.
Findings:
- Gas chromatography-mass spectrometry of urinary organic acids confirmed propionic acidemia.
- Autopsy revealed spongy degenerations in the central nervous system (CNS).
Implications:
- Neonatal symptoms like vomiting and hypotonia warrant consideration of hereditary organic acidurias.
- Timely diagnosis through organic acid analysis is critical for managing propionic acidemia and preventing severe complications.
- This case highlights the importance of considering metabolic disorders in infants with unexplained severe symptoms.
Abstract:
Clinical course and special diagnostic procedures in a 7 1/2 weeks old dystrophic infant with propionic acidemia are described. The disorder manifested with vomiting and diarrhea within the first week of life when the child was on a cow milk formula. Parenteral nutrition with glucose and electrolytes led to improvement. When oral nutrition with a cow milk formula was implemented again, an acute deterioration with diarrhoea and vomiting occurred. Thus, a diagnosis of cow milk allergy was suggested. There was also a severe muscular hypotony. Oral nutrition with a soybean formula did not prevent further clinical deterioration. At 7 1/2 weeks of age the patient died with symptoms of cardiogenic shock. The correct diagnosis was considered too late and confirmed post mortem. Clinical symptoms in the neonatal period like vomiting, muscular hypotony and failure to thrive should alert the physician to a possible diagnosis of a hereditary organic aciduria. Gas chromatography-mass spectrometry of urinary organics acids, in the present case, established the diagnosis. On autopsy, spongy degenerations were found in CNS.