The disease Dandy Walker syndrome (SDW) It is an anomaly of the congenital type that usually develops during childhood and is characterized by the presence of hydrocephalus, alterations in areas of the cerebellum and cystic dilatation of the fourth ventricle, which results in a widening of the posterior fossa (Rodríguez Virgili and Cabal .
This alteration receives some other denominations, like Dandy Walker's malformation, deformity, cyst, malformation of Luschka and Magendie, etc. (García Caballero, 2012).
The major signs and symptoms, which tend to appear during early childhood, are characterized by slow motor development and abnormal skull growth (Dandy-Walker Alliance, 2009).
In some older children, symptoms related to Intracranial hypertension , Irritability, vomiting, seizures, instability, lack of muscle coordination or spasmodic movements (Dandy-Walker Alliance, 2009).
In addition, this type of pathology is associated with alterations in other areas of the central nervous system, such as absence of hard body And / or cardiac, facial, and upper and lower extremity malformations (Dandy-Walker Alliance, 2009).
With regard to prognosis and treatment, the interventions focus on treating the associated alterations and problems: reducing intracranial pressure, controlling associated deficits, treating cardiac malformations, etc. (National Institute of Neurological Disorders and Stroke, 2014).
Characteristics of Dandy-Walker Syndrome (SDW)
Dandy-Walker syndrome is a type of malformation that affects the brain during embryonic development, mainly to the development of cerebellum (U.S. National Library of Medicine, 2015).
The cerebellum is one of the largest brain structures that is part of our nervous system. It accounts for approximately 10% of brain weight and may contain approximately more than half of brain neurons.
Traditionally, it has been attributed a prominent role in the execution and coordination of motor acts and the maintenance of muscle tone for balance control, due to its position close to the main motor and sensory pathways.
In addition, his participation in complex cognitive processes, such as executive functions, learning, memory , Visuospatial functions or even contributing to the emotional sphere and the linguistic area.
In people with this disease, several parts of the cerebellum can develop abnormally: the most central part or Vermis , May have a very small volume, be abnormal or even be absent. On the other hand, both hemispheres of the cerebellum can also be affected (U.S National Library of Medicine, 2015).
Furthermore, in one of the fluid-filled cavities between the brainstem And the cerebellum (fourth ventricle) and the area of the skull containing the cerebellum and the brainstem (posterior fossa), an abnormal enlargement may be observed (U.S. National Library of Medicine, 2015).
All these alterations usually result in problems of muscle coordination and movement, neurological functions, intellectual performance, state cheer up , Among others (U.S National Library of Medicine, 2015).
About us
In the United States, it has been estimated that the frequency of malformation or Dandy-Walker syndrome (SDW) is 1 chaos of 25,000-30,000 (National Organization for Rare Disorders, 2008).
In addition, it is more frequent in females, with a 3: 1 ratio (Rodríguez and Cabal, 2010; García-Caballero, 2012).
symptom
In most people with Dandy-Walker syndrome, symptoms resulting from the abnormal development of different brain regions are present from birth or develop during the first year of life (U.S. National Library of Medicine, 2015).
However, the clinical manifestations presented by people suffering from this type of pathology will depend on several factors (García-Caballero, 2012):
- The severity with which Dandy-Walker syndrome occurs.
- Associated malformations.
- Age and time of diagnosis.
In almost all cases, characteristic features usually appear during childhood: obstructive hydrocephalus, increased head circumference, muscular dystrophy , Eye alterations, etc. (Rodríguez Virgili and Cabal García, 2010).
On the other hand, other signs of cerebellar damage such as ataxia or the Nystagmus , As well as seizures, Hypotonia and the Spasticity (Rodríguez Virgili and Cabal García, 2010).
Specifically, the most characteristic symptoms of Dandy-Walker syndrome include (National Organization for Rare Disorders, 2008):
- Generalized delay of development.
- Intellectual deficits.
- Reduction of muscle tone (hypotonia).
- Accumulation of fluid at the brain level (Hydrocephalus).
- Abnormal increase of cranial perimeter (Macrocephaly).
- Increased cranial pressure due to the development of hydrocephalus.
- Convulsive episodes.
Many cases of children with Dandy-Walker syndrome have abnormal cerebrospinal fluid accumulation in the brain ( Hydrocephalus ) Which may involve increasing the size of the head ( Macrocephaly ) (U.S. National Library of Medicine, 2015).
In addition, it has been observed that more than half of the individuals affected by this pathology present some type of intellectual alteration, from mild to severe, while other individuals, although presenting an intellectual level within the expected normative ranges, may present serious difficulties Of learning (US National Library of Medicine, 2015).
With regard to generalized developmental delay, it is common to observe a delay in the development of motor skills, particularly in crawling, branding or coordination of movements (U.S. National Library of Medicine, 2015).
As for muscle tone, in many cases they may experience muscle stiffness or weakness, or partial paralysis of the lower extremities (U.S. National Library of Medicine, 2015).
In addition, the condition of Dandy-Walker syndrome is not only associated with alterations at the cerebral level, problems related to keratic defects, abnormalities in the utogenital treatment, alterations or malformations in the fingers and toes, and / or easy traits Abnormal (US National Library of Medicine, 2015).
As we pointed out above, in all cases the clinical course begins to manifest in the initial moments of life. Approximately 10-20% of cases present an initial presentation of symptoms in the late stage of childhood or adulthood (U.S. National Library of Medicine, 2015).
The late manifestation of Dandy-Walker syndrome has a different clinical range: headaches, sea instability, facial paralysis, increased muscle tone, muscle spasms, behavioral and cognitive disturbances (US National Library of Medicine, 2015 ).
Syndromes and Related Disorders
Specifically, there are different anomalies and syndromes that are associated with the development of the Dandy-Walker malformation (SDW) García-Caballero, 2012):
- Congenital disorders related to the central nervous system : Dysgenesis of the corpus callosum, holoproscenfalia, cingulate gyrus dysplasia, macrocephaly, spina bifida, meningocele lumbosacral.
- Congenital abnormalities not associated with the central nervous system : Orofacial and palatine malformations, cardiac anomalies, polycystic kidneys, retinal digenesia, Meckel-Gruber syndrome.
- Syndromes related to SDW : Aase-Smith syndrome, Aicardi syndrome, cerebro-coulomatic syndrome, coffin-Siris syndrome and Cornelia de Lange syndrome.
It is rare that people suffering from Dandy-Walker syndrome do not have health problems related to this pathology. Specifically, alterations related to hydrocephalus and complications associated with treatment are the most common cause of death in this type of pathology (U.S. National Library of Medicine, 2015).
Causes
Dandy-Walker syndrome (SDW) is a congenital type pathology (Rodríguez Virgili and Cabal García, 2010). It occurs as a consequence of embryonic defects in the development of the cerebellum and some related structures (National Organization for Rare Disorders, 2008).
The development of the nervous system (SN) follows a very complex process that is based on a multitude of genetically programmed neurochemical events, very influenced by environmental factors.
When it happens A congenital malformation at the level of the nervous system , The normal and efficient development of the cascade of developmental events is interrupted. Therefore, structures and / or functions will begin to develop abnormally, having serious consequences for the individual, both physically and cognitively.
These alterations and congenital malformations can be considered one of the main causes of fetal morbidity and mortality (Piro, Alongi et al., 2013). Different investigations have indicated that they can represent 40% of childhood deaths during the first moments of life, in addition this type of anomalies constitute a significant cause of deterioration of the functionality in the child population, they give rise to a wide variety of Neurological disorders (Herman-Sucharska et al, 2009).
In the case of Dandy-Walker syndrome, developmental defects have been associated with the occurrence of chromosomal abnormalities: suppression of chromosome 3q24.3, 6p25, 13q32.2-q33.2 or duplication of 9q (National Organization for Rare Disorders , 2008).
Specifically, Dandy-Walker syndrome occurs more frequently in individuals suffering from trisomy on chromosome 18, 23, 21 or 9 (U.S. National Library of Medicine, 2015).
Many of the cases of this pathology are sporadic, that is, they usually occur in people whose family history is not related to the presence of Dandy-Walker syndrome (U.S. National Library of Medicine, 2015).
Although a recuded percentage of cases appear to be related to family history, a clearly defined hereditary pattern has not been identified (Walker, U.S. National Library of Medicine, 2015). Despite this, first-degree relatives of an individual affected by Dandy-Walker are at an increased risk of developing the disease compared to the general population (U.S. National Library of Medicine, 2015).
In all other cases where there is no clearly defined etiologic cause related to previous chromosomal abnormalities, they are likely to develop as a consequence of other genetic alterations or environmental factors (National Organization for Rare Disorders, 2008).
Diagnosis
To make a diagnosis of this pathology, it is common to perform different neuroimaging studies to confirm the presence of abnormalities at the brain level (Spanish Federation of Rare Diseases, 2016).
The diagnosis of this pathology in adulthood is uncommon, and is usually detected by chance after clinical studies related to the posterior fossa (Rodríguez Virgili and Cabal García, 2010).
Treatment
Therapeutic interventions for Dandy-Walker syndrome (SDW) focus on the treatment of clinical intensity and associated problems (Rodríguez Virgili and Cabal García, 2010).
It is common to approach hydrocephalus through surgical procedures with the placement of a centriculoperitoneal shunt, or use pharmacological treatment to address the rest of the symptomatology (Rodríguez Virgili and Cabal García, 2010).
Another therapeutic approach in children with Dandy-Walker syndrome focuses on applying special education, physical therapy, neuropsychological intervention and other medical services to achieve maximum physical and intellectual development (National Organization for Rare Disorders, 2008).
Forecast
The prognosis associated with this pathology varies depending on the anomalies and related alterations (Rodríguez Virgili and Cabal García, 2010).
If there are very severe alterations and multiple malformations, it is probable that several systems and organs are seriously affected, which can lead to death (Rodríguez Virgili and Cabal García, 2010).
On the other hand, diagnosis and prognosis are favorable when hydrocephalus and associated deficits are approached early and appropriate (Rodríguez Virgili and Cabal García, 2010).
References
- DWA. (2016). What is Dandy-Walker? Retrieved from the Dandy-Walker Alliance: http://dandy-walker.org/
- ERDF. (2014). Dandy Walker syndrome. Retrieved from the Spanish Federation of Rare Diseases: http://www.enfermedades-raras.org/
- García Caballero, I. M. (2012). Dandy Walker syndrome and intervention in childhood. RElDoCrea, 1 , 52-58.
- Herman-Shucharska, I., Bekiesinska-Figatowska, M., & Urbanik, A. (2009). Fetal central nervous system malformations on MR images. Brain & Development (31), 185-199.
- Medicine, U. N. (2015). Dandy-Walker malformation. Retrieved from Genetic Home reference: https://ghr.nlm.nih.gov/
- NIH. (2010). Dandy-Walker syndrome. Retrieved from the National Institute of Neurological Disorders and Stroke: http://espanol.ninds.nih.gov/
- NORD. (2008). Dandy Walker Malformation. Retrieved from the National Organization for Rare Disorders: http://rarediseases.org/
- Piro, E., Alongi, A., Domianello, DE, Sanfilippo, C., Serra, G., Pepitone, L., et al. . . Corsello, G. (2013). Malformations of central nervous system: Genral issues. Acta Medicina Mediterranea (29).
- Rodríguez Virgili, J., & Cabal García, A. (2010). Dandy-Walker syndrome. Primary Care, 42 (1), 50-51.