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Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death
Authors:Yahyaoui Raquel  Espinosa María Gracia  Gómez Celia  Dayaldasani Anita  Rueda Inmaculada  Roldán Ana  Ugarte Magdalena  Lastra Gonzalo  Pérez Vidal
Affiliation:aClinical Laboratory, Carlos Haya University Hospital, Málaga, Spain;bNeonatology Department, Carlos Haya University Hospital, Málaga, Spain;cCentro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Univesidad Autónoma de Madrid, CIBERER, Madrid, Spain
Abstract:Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature.An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype–phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT).All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life.The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism.
Keywords:Abbreviations: CPT II, Carnitine Palmitoyltransferase II   MS/MS, tandem mass spectrometry   CBC, complete blood count   CT, computed tomography   CACT, carnitine/acylcarnitine translocase
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