Dandy-Walker Complex (DWM)

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ICD10 via Orphanet 34 Q07.8 UMLS via Orphanet 73 C3164501

Orphanet 59 ORPHA97252 UMLS 72 C0010964 C2931015 C2931867

Genetics Home Reference : ²⁵ Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions. In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. Some children have a buildup of fluid in the brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition. Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. These abnormalities include an underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), or a failure of some nerve cells (neurons) to migrate to their proper location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms. Dandy-Walker malformation typically affects only the brain, but problems in other systems can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features. In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. These individuals typically have a different range of features than those affected in infancy, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes. Rarely, people with Dandy-Walker malformation have no health problems related to the condition. Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.

MalaCards based summary : Dandy-Walker Complex, also known as dandy-walker malformation, is related to dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and dandy-walker malformation with postaxial polydactyly, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Dandy-Walker Complex is NES (Nestin). The drugs Kava and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord.

NIH Rare Diseases : ⁵³ Dandy-Walker complex is a group of disorders that affect the development of the brain. The changes in brain development are present from birth (congenital). Dandy-Walker complex affects the formation of the area of the brain known as the cerebellum, which is responsible for coordinating movement, and the fluid-filled spaces around it. People with Dandy-Walker complex may have a portion of the brain called the cerebellar vermis that is smaller than expected (hypoplastic) or completely absent (aplastic). The cerebellar vermis is the area of the brain between the two halves of the cerebellum. People with Dandy-Walker complex have a larger than expected fourth ventricle of the brain. This ventricle allows fluid to flow between the upper and lower areas of the brain and spinal cord. People with Dandy-Walker complex may have an enlarged portion of the base of the skull (posterior fossa). Dandy-Walker complex may be more common in females than in males. Dandy-Walker complex is a group of disorders that have overlapping symptoms. These disorders include: Dandy-Walker malformation (also known as Dandy-Walker syndrome): having a small cerebellar vermis, large fourth ventricle, and enlarged posterior fossa Isolated cerebellar vermis hypoplasia (sometimes known as Dandy-Walker variant): having a small cerebellar vermis without other features of Dandy-Walker complex Mega-cisterna magna: having an enlarged posterior fossa with a typically developed cerebellum. This may be a normal variant and may not cause any health problems. Posterior fossa arachnoid cyst: the development of a cyst on the posterior fossa without any other features of Dandy-Walker complex Each of these disorders can have separate causes and different long-term outlooks. In order to provide families with more information about the specific developmental differences in the brain and the long-term outlook, a person with Dandy-Walker complex may be given a more specific diagnosis. In some cases, Dandy-Walker complex is caused by an underlying genetic change. These genetic changes may cause Dandy-Walker complex alone, or they may cause Dandy-Walker complex as well as other health problems. In these situations, the complex can run in families. However, in most situations, Dandy-Walker complex is caused by a combination of genetic and environmental factors. Dandy-Walker complex can be diagnosed by imaging of the brain such as ultrasound, CT scan, or MRI scan. Treatment options may include a surgery to place a ventriculoperitoneal shunt that relieves excess fluid from the brain, as well as physical and occupational therapies.

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