The prenatal diagnosis of the Walker‐Warburg Syndrome

Abstract

On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.

Prenatal diagnosis of retinal nonattachment in the Walker‐Warburg syndrome

“…The suggestion of Crowe et al [1986] that the orbital diameter might help in the prenatal detection of this disorder does not seem to be true. Vohra et al [19931 and we could not document hypotelorism or small orbits despite the microphthalmia found postnatally in some patients.…”

“…The postnatal findings confirmed the diagnosis of WWS. Prenatal diagnosis of other fetuses at risk for WWS [Williams et al, 1984;Crowe et al, 1986;Miller et al, 1991;Rodgers et al, 19941 was based on the cerebral abnormalities but failed to show the ocular abnormality. In the cases reported by Miller et al [19911 and Rodgers et al [19941, the prenatal diagnosis was made at 18-20 weeks gestation.…”

Second-Trimester Diagnosis of Fetal Cataract in a Fetus with Walker-Warburg Syndrome

“…Since cytogenetic or genomic diagnosis of WWS is not yet possible, ocular and cerebral abnormalities, such as hydrocephalus, encephalocele, retinal nonattachment, microphthalmia as well as hydrophthalmia and cataracts, remain the hallmarks in the early prenatal detection of WWS [3,7,8], The various eye defects reported in prena tal diagnosis of this syndrome include retinal nonattach ment, hydrophthalmus and cataract [3,7,8], This might shed further light on the question of heterogenity in WWS. Likewise, there might be a late onset for the cata ract.…”

Anaesthesia for a child with Walker–Warburg syndrome

“…Walker–Warburg syndrome (WWS) was first described by Walker in 1942 (1) and then by Warburg in 1978 (2,3). It also has several synonyms [Table 1 (4,5)]. Its incidence in the general population is unknown.…”