Should we insist on etiological investigation, even in the face of neonatal risk factors?

*Correspondence: [e-mail].

Abstract

Case Presentation: LVLM,10 years old, daughter of non-consanguineous parents, which mother ingested alcohol and smoked during pregnancy, without neonatal complications. Evolved with delay neuropsychomotor, predominantly language, low social reciprocity and restricted interests. At 12 months, had her first febrile seizure. At 3 years old heteroaggressiveness and self-injury, stereotyped movements and sensory dysfunction were observed. On physical examination, microcephaly, straight palpebral fissures, deep-set eyes, high nasal root, tapered dorsum, nasal wing hypoplasia, retromicrognathia, pectus excavatum, paucity of palmar creases, single palmar crease on the right. The neurological examination showed slurred speech with squeaking, facial hypomimia, hypertonia, grade 4 muscle strength globally and unstable gait. The echocardiogram showed a bicuspid aortic valve.The MRI of skull showed a slight diffuse reduction of the white matter of the cerebral hemispheres and discrete foci of hypersignal on T2/FLAIR, compatible with previous hypoxic-ischemic injury. Exoma showed heterozygous pathogenic variant of the DYRK1A gene.

Discussion: DYRK1A syndrome is caused by a pathogenic variant whose prevalence is below 1/1000.000. Patients present with microcephaly, intellectual disability, autistic behavior and phenotypic characteristics. The diagnosis is obtained by molecular test. The objective of this work is to present the case of a patient with DYRK1A gene mutation, whose mother consumed alcohol during pregnancy.

Final Comments: DYRK1A syndrome, although a very rare condition, should be among the differentials diagnoses in a patient with intellectual disability, microcephaly, heart malformation and dysmorphisms.

Publication History

Article published online:
12 May 2025