Abstract

ABREU, Mariana; JARDIM, Joana  and  BARREIRA, João Luís. Microcephaly: a clinical case of maternal phenylketonuria undiagnosed. Rev Port Med Geral Fam [online]. 2020, vol.36, n.5, pp.441-445. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v36i5.12567.

Introduction: Microcephaly is associated with microencephaly and it may be present at birth or may develop in the postnatal period. The pathogenesis of microcephaly is heterogeneous, ranging from genetic causes, metabolic diseases, intrauterine infections, or environmental factors. A specific approach is needed. Clinical case: We present a 10 months old female with intrauterine growth restriction, microcephaly, psychomotor developmental delay, and facial dysmorphism. Her mother revealed intellectual disability and had another son with microcephaly and psychomotor developmental delay. We suspected a maternal condition to explain this. Maternal serum levels of phenylalanine were consistent with classic phenylketonuria, placing the diagnosis of maternal phenylketonuria syndrome. Discussion: Elevated phenylalanine levels in pregnant women are teratogenic and can result in intrauterine growth restriction, microcephaly, cardiac malformations, facial dysmorphism, delayed postnatal growth, and psychomotor developmental delay. This embryopathy can be prevented by dietary restriction of phenylalanine before and during pregnancy.

Keywords : Microcephaly; Hyperphenylalaninaemia; Phenylketonuria, Classical; Embryopathies; Phenylketonuria, Maternal.

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