Dandy-Walker Malformation in an Infant with Lambotte Syndrome: A Rare Case Report

Lambotte Syndrome (LS) comprises Intrauterine Growth Retardation (IUGR), cerebral dysgenesis, microcephaly, and early mortality. Dandy-Walker Syndrome (DWS) is characterised by a triad of hypoplastic cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa with torcular-lambdoid inversion. The index case was delivered late preterm at 36 weeks of gestational age and exhibited evidence of IUGR and postnatal failure to thrive. A male infant was admitted at 1.5 months of age due to recurrent unprovoked seizures, which were controlled with phenobarbitone and phenytoin injections. He displayed grade I hypertelorism, fixed flexion deformities of the fingers and toes, and generalised hypotonia. Brain Magnetic Resonance Imaging (MRI) revealed severe semilobar holoprosencephaly, a polymicrogyria-pachygyria complex, multiple heterotopias, DWS, and brainstem malformations. Sudden infant death occurred on the third day after admission. He fulfilled the tetrad of LS. Hereby, the authors present the first case of LS outside an Arab sibship, the eighth case worldwide, and present the radiological details of DWS and complex brainstem malformations, which were previously unreported in LS.