Abstract | BACKGROUND: PATIENT DESCRIPTION: We present the first Portuguese reported type II D-bifunctional protein deficiency patient, whose neonatal clinical picture is indistinguishable from a Zellweger spectrum disease. The clinical features and the neuroimaging findings of polymicrogyria raised suspicion of the diagnosis. After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. The patient's parents were carriers of the mutated allele, confirming the patient homozygosity status and allowing prenatal diagnosis in future pregnancies. CONCLUSIONS: D-bifunctional protein deficiency is a rare, severe disease and the final diagnosis can only be accomplished after HSD17B4 gene sequencing. Treatment is supportive, aimed at improving nutrition and growth, controlling the central nervous system symptoms, and limiting the eventual progression of liver disease.
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Authors | João Nascimento, Céu Mota, Lúcia Lacerda, Sara Pacheco, Rui Chorão, Esmeralda Martins, Cristina Garrido |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 52
Issue 5
Pg. 539-43
(May 2015)
ISSN: 1873-5150 [Electronic] United States |
PMID | 25882080
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2015 Elsevier Inc. All rights reserved. |
Chemical References |
- Peroxisomal Multifunctional Protein-2
- HSD17B4 protein, human
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Topics |
- Brain Diseases, Metabolic, Inborn
(complications, diagnosis, physiopathology)
- Electroencephalography
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Muscle Hypotonia
(etiology)
- Peroxisomal Multifunctional Protein-2
(deficiency)
- Seizures
(etiology)
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