Difficulties with prenatal diagnosis of the walker-warburg syndrome

Low, Albert; Lee, S. L.; Tan, Adeline; Chan, Diana Xin Hui; Chan, Ling Ling

doi:10.1080/02841850510021409

Cited by 10 publications

(8 citation statements)

References 24 publications

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“…Difficulties with prenatal diagnosis of WWS have been highlighted recently in the medical literature. Its sonographic features, which include mainly lissencephaly and cerebellar hypoplasia and, in some cases, meningocele, are non‐specific and are suggestive of the diagnosis only if there is a family history; this was emphasized in a recent series of 65 cases (fetuses and neonates) of CL, in which all index cases were diagnosed only after neuropathological investigation.…”

Section: Cases Seriesmentioning

confidence: 99%

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Lacalm

Nadaud

Massoud

et al. 2016

Ultrasound in Obstet & Gyne

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Section: Cases Seriesmentioning

confidence: 99%

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Lacalm

Nadaud

Massoud

et al. 2016

Ultrasound in Obstet & Gyne

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“…The ocular abnormalities, which confirmed the diagnosis 6,7,9 , were only observed 1 month later. Late-onset microphthalmia and late diagnosis of retinal detachment have been described previously 5,10 .…”

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confidence: 99%

“…In fetuses postnatally proven to be affected by WWS, the cerebral anomalies detected by prenatal sonography are usually non-specific 5 and suggestive of WWS only in cases with a positive family history. When familial history is uninformative, only the association of cerebral or cerebellar with ocular anomalies can suggest the correct diagnosis 6,7 .…”

mentioning

confidence: 99%

Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker–Warburg syndrome

Strigini

Valleriani

Cecchi

et al. 2009

Ultrasound in Obstet & Gyne

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Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker–Warburg syndrome A 27-year-old woman was referred for targeted ultrasound examination at 26 weeks’ gestation following sonographic detection of fetal ventriculomegaly and posterior fossa abnormality. She and the father were Macedonian, non-consanguineous, healthy and had two healthy daughters. A mid-trimester abnormality scan had not been performed. On ultrasound examination the fetal cerebral ventricles were found to be enlarged (atrial width, 14 mm), the cerebellar vermis was not depicted and the fourth ventricle communicated with the cisterna magna, which was not enlarged (Figure 1). A median anechoic structure was interposed between the lateral ventricles, suggestive of a vein of Galen aneurysmal malformation. However, this diagnosis was easily excluded because the structure showed no signal on color Doppler imaging. Two days later, magnetic resonance imaging (MRI) confirmed the sonographic findings. Moreover, it showed a kinked Z-shaped brainstem, with bifid pons and medulla oblongata (Figure 2), and the mantle was thin with a simplified gyral pattern. The association of lissencephaly with cerebellar and brainstem anomalies suggested the diagnosis of Walker–Warburg syndrome (WWS). WWS is a rare autosomal recessive disorder characterized by congenital muscle dystrophy (CMD) and complex brain and eye abnormalities1,2. Additional ultrasound and MRI examinations showed progressive enlargement of the cerebral ventricles, the median anechoic structure and the cisterna magna (Figure 1c). At 31 weeks, retinal nonattachment/ detachment and asymmetry of the eye globes were observed (Figure 3). At 41 weeks a male fetus was vaginally delivered, with a birth weight of 3400 g and head circumference of 37.5 cm. The neonate showed spontaneous respiratory activity, but was deeply hypotonic and required gavage nutrition for impaired swallowing. Postnatal MRI showed active hydrocephalus (necessitating ventriculoperitoneal shunt placement), the typical ‘cobblestone’ appearance of lissencephaly and abnormal cerebellar gyration (Figure 4). Muscular biopsy on day 15 showed severely increased variability of the diameter of muscle fibers and endomisial fibrosis together with immunohistochemical reduction of glycosylated alpha-dystroglycan2. Molecular analysis showed a homozygous mutation in the protein-Omannosyltransferase 1 (POMT1) gene (c.1611C>G, p.Ser537Arg), which has previously been detected in other cases of WWS3,4. The infant died at 6 months of age. In fetuses postnatally proven to be affected by WWS, the cerebral anomalies detected by prenatal sonography are usually non-specific5 and suggestive of WWS only in cases with a positive family history. When familial history is uninformative, only the association of cerebral or cerebellar with ocular anomalies can suggest the correct diagnosis6,7. In the current case, sonography showed ventriculomegaly and dysplastic cerebellum, and the diag...

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“…In utero ultrasound can detect hydrocephalus by 13 wk of gestation and occipital encephalocele by 18 wk of gestation [2]. A combination of corpus callosal dysgenesis, lissencephaly and retinal non attachment would be more specific but are difficult to diagnose by ultrasound alone [8,9].…”

Section: Discussionmentioning

confidence: 99%

“…Other characteristic findings seen on imaging are a posterior encephalocele, cerebellar polymicrogyria (with or without cysts), pontine and cerebellar vermian hypoplasia, and callosal hypogenesis [4]. The major diagnostic criteria (of Dobyns) are: A) lissencephaly, B) cerebellar malformation, C) retinal dysplasia, and D) congenital muscular dystrophy [2,8,9]. Pathology typically shows an absence of normal cortical cytoarchitecture [5].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of cobblestone lissencephaly and associated Chiari malformation using fetal MRI

Ferrone

Corliss

Snuderl

et al. 2015

J Pediatr Neuroradiol

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Walker-Warburg Syndrome (WWS) is a rare and severe form of autosomal recessive congenital muscular dystrophy affecting the brain, eyes, and muscles. We report a case of an infant diagnosed with cobblestone lissencephaly as well as a Chiari malformation, consistent with likely WWS based on fetal anomalies noted on prenatal ultrasound and confirmed with magnetic resonance imaging (MRI) at 35 week. Although multiple posterior fossa abnormalities have been reported in the setting of WWS, to our knowledge, the co-existence of a Chiari malformation has never before been reported. We describe the fetal MRI and pathological findings of WWS and discuss the role of MRI as an antenatal imaging tool.

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Difficulties with prenatal diagnosis of the walker-warburg syndrome

Cited by 10 publications

References 24 publications

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker–Warburg syndrome

Diagnosis of cobblestone lissencephaly and associated Chiari malformation using fetal MRI

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