Case Report: Lethal neonatal form of CPT II deficiency in consecutive
pregnancies: fetal-neonatal characteristics, biochemical and molecular review
#MMPMID41341108
Tan YY
; Tewani KG
; Anand AJ
; Kong CX
; Rajadurai VS
; Chandran S
Front Pediatr
2025[]; 13
(?): 1648282
PMID41341108
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Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited
disorder of mitochondrial oxidation of long-chain fatty acids (LCFA). Carnitine
is the sole carrier of LCFA, which is transferred to the cellular mitochondria
for ?-oxidation; CPT II plays a vital role in this process. Three phenotypic
forms of CPT II deficiency exist: lethal neonatal (LNF), severe infantile
hepato-cardio-muscular, and mild adult myopathic forms. The LNF is the most
severe type of CPT II deficiency. Management should be guided by shared
decision-making with parents, taking into account the severity of the disease,
the goals of care, and the quality of life for both the patient and their family.
We present a consanguineous couple with two siblings in consecutive pregnancies
with LNF of CPT II deficiency who exhibited similar symptoms, both antenatally
and postnatally. Antenatal assessments revealed cardiomegaly, ventriculomegaly,
and polycystic kidneys. The first sibling received all supportive measures,
including extracorporeal life support, but succumbed. Parents, counseled
antenatally by the perinatal palliative care team, opted for comfort care for the
second sibling, who passed away on day 3 of life. Cardiac, renal, and cerebral
malformations were consistent in fetal and neonatal ultrasound scans of both
siblings, who had biochemical and molecular diagnoses, confirming CPT II
deficiency. The fetal imaging signs served as reliable indicators for early
diagnosis, especially in the background of consanguinity. We present the cases of
the siblings, including a literature review on fetal and neonatal
characteristics, as well as the biochemical and molecular features of CPT II
deficiency.
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