It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly type II) distinctive dorsal "kink" at the mesencephalic-pontine junction7 Dandy Walker continuum [radiopaedia.org]

Additionally, the uniqueness of the present case also lies in unilateral renal involvement. [jmhg.springeropen.com]

Schachter Medicine Orphanet journal of rare diseases 2006 WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures, and Laboratory investigations usually show elevated creatine [semanticscholar.org]

Glaucoma or buphthalmos may be present. [fortunejournals.com]

Posterior cephaloceles and cleft lip/palate were present in 25% and 14% in their series, respectively. [scielo.br]

• Failure to Thrive

  She currently has failure to thrive, profound developmental delay, and occasional seizures. Case 2. This female infant was the index case's sister and was 6 ½ years her older. [scielo.br]

• Corneal Opacity

  Eye abnormalities associated with WWS include cataract, corneal opacity, glaucoma, and retinal malformation [1]. [karger.com]

  Pagon R, et al. [6] has also reported case of 2 siblings with eye and brain abnormality where one had a progressive hydrocephalus and central corneal opacities also known as Peters anomaly and a 2 cm skin covered encephalocele, hydrocephalus and micropthalmia [fortunejournals.com]

• Severe Mental Retardation

  Type II lissencephaly, cerebellar malformations and severe mental retardation are other features. More variable signs include macro- or microcephaly, ventricular dilatation, cleft lip and/or palate, and congenital contractures. [disorders.eyes.arizona.edu]

• Seizure

  Seizures. Symptoms that affect your child's brain can lead to delayed development and challenges with intellectual abilities. [my.clevelandclinic.org]

  Schachter Medicine Orphanet journal of rare diseases 2006 WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures, and Laboratory investigations usually show elevated creatine [semanticscholar.org]

  Some individuals with Walker-Warburg syndrome experience seizures. Eye abnormalities are also characteristic of Walker-Warburg syndrome. [encyclopedia.pub]

  Children born with WWS display intellectual disability and often have seizures. [rarediseases.org]

  There was no reported history of seizures, eye discharge or fevers. The parents were not consanguineous and the mother had 4 miscarriages before this pregnancy, which were in early trimester. [fortunejournals.com]

Management and Treatment How is Walker-Warburg syndrome treated? Since there's no cure for Walker-Warburg syndrome, treatment focuses on alleviating symptoms. [my.clevelandclinic.org]

There is no specific treatment and management is mainly supportive. History and etymology It was named after Arthur Earl Walker and Mette Warburg. References Promoted articles (advertising) [radiopaedia.org]

Treatment Treatment Options: No effective treatment is available but early indications are that FKRP gene therapy restores functional glycosylation and improves muscle functions. [disorders.eyes.arizona.edu]

Standard Therapies Treatment There is no cure for WWS at this time and treatment is individualized based on specific symptoms. [rarediseases.org]

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12. Review. [medlineplus.gov]

The overall prognosis is poor with most infants dying within the 1st year of life. [radiopaedia.org]

Conclusion: Overall prognosis of this disease is poor, the baby died in 42 days due to aspiration pneumonia and progressive respiratory failure. [fortunejournals.com]

Prognosis: Most of the newborns affected by Walker-Warburg syndrome die within the first year of life. Of those few who survive until 5 years of age, the majority have severe mental and developmental retardation. [thefetus.net]

Outlook / Prognosis What can I expect if my child has Walker-Warburg syndrome? Walker-Warburg syndrome is a progressive condition that causes symptoms to start mild but get worse over time. [my.clevelandclinic.org]

The couple was informed with the poor prognosis of the condition that was confirmed by molecular testing; subsequently, they opted to terminate the pregnancy at 24 weeks’ gestation and autopsy was declined. [jmhg.springeropen.com]

Disease-related gene description At least 14 different genes have been reported to be responsible for encoding proteins involved in the glycosylation process, which is defined as a crucial etiology of WWS. [cd-genomics.com]

She displayed a remarkably similar clinical course and died at 10 months of age lacking a specific etiology for her neurologic syndrome. At 28 weeks gestation, an ultrasound detected hydrocephalus and polyhydramnios. [scielo.br]

Literature shows a mutation in Protein O-Mannosyltransferase 1 (POMT1) gene, which results in a defect in O-mannosylation of α-dystroglycan, these proteins are central to the pathogenesis of structural and functional brain abnormalities however, the exact pathophysiology [fortunejournals.com]

Mutations in the genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan, which disrupts its normal function. [encyclopedia.pub]

No improvement in visual function was expected, but for facial cosmetic reasons and to prevent secondary corneal injuries such as corneal perforation, cyclocoagulation was considered. [karger.com]

Treatments might include anti-seizure medication, surgery for hydrocephalus, such as the placement of shunts to drain excess cerebrospinal fluid and reduce pressure in the brain, and physical therapy to improve muscle strength and prevent contractures [rarediseases.org]