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Dandy-Walker syndrome
ICD-10 Codes
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Description
Dandy-Walker syndrome, also known as Dandy-Walker malformation, is a rare congenital brain condition that affects the development of the cerebellum, which is the part of the brain responsible for coordinating movement.
Key Features:
- Underdevelopment of the cerebellar vermis: The middle part of the cerebellum, called the cerebellar vermis, is underdeveloped and abnormally positioned.
- Cystic dilation of the fourth ventricle: A fluid-filled space in the brain, known as the fourth ventricle, becomes enlarged or cyst-like.
- Macrocephaly: Babies with Dandy-Walker syndrome often have an unusually large head size.
Symptoms:
- Irritability
- Vomiting
- Low muscle tone (floppiness)
- Seizures (bursts of electrical activity in the brain)
These symptoms can vary in severity and may not be present in all cases. Some children with Dandy-Walker syndrome may also experience developmental delays or difficulties with coordination and balance.
Causes:
The exact cause of Dandy-Walker syndrome is unknown, but it is believed to be related to genetic factors. Chromosomal abnormalities have been linked to the condition in some cases.
References:
- [1] Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement.
- [3] DWM is characterized by underdevelopment (small size and abnormal position) of the middle part of the cerebellum known as the cerebellar vermis, cystic ...
- [5] Dandy-Walker malformation is a condition in which the brain doesn't develop properly before birth. It mainly affects the cerebellum.
- [13] Dandy-Walker syndrome, also known as the Dandy-Walker malformation, is a rare, congenital hydrocephalus (a buildup of fluid in the brain) that affects the cerebellum portion of the brain.
Note: The above information is based on the search results provided and may not be an exhaustive or definitive description of Dandy-Walker syndrome.
Additional Characteristics
- Vomiting
- Seizures
- Irritability
- Macrocephaly (unusually large head size)
- Underdevelopment of the cerebellar vermis
- Cystic dilation of the fourth ventricle
- Low muscle tone (floppiness)
Signs and Symptoms
Common Signs and Symptoms of Dandy-Walker Syndrome
Dandy-Walker syndrome, a rare congenital condition, can manifest in various ways, affecting individuals differently. The following are some common signs and symptoms associated with this condition:
- Developmental Delays: Many people with Dandy-Walker syndrome experience developmental delays, particularly in infancy [7].
- Balance and Coordination Issues: Difficulty with balance and coordination is a frequent symptom, as the cerebellum plays a crucial role in movement and balance control [2][11].
- Poor Muscle Tone: Weak or poor muscle tone can be observed in individuals with Dandy-Walker syndrome [7].
- Seizures: Seizures are another common symptom, which can occur due to increased pressure on the brain [1].
- Vision or Hearing Problems: Some people may experience vision or hearing problems as a result of the condition [7].
- Increased Head Circumference: Hydrocephalus, a condition characterized by an accumulation of cerebrospinal fluid in the brain, can lead to an enlarged head circumference [4][14].
- Irritability and Vomiting: Increased pressure on the brain can cause irritability and vomiting, which are often early signs of Dandy-Walker syndrome [1].
Additional Symptoms
In some cases, individuals with Dandy-Walker syndrome may experience:
- Muscle Stiffness and Partial Paralysis: Muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia) can occur due to the condition [5].
- Macrocephaly: An enlarged head size can be a result of hydrocephalus, which is often associated with Dandy-Walker syndrome [4].
It's essential to note that each individual may exhibit different symptoms, and not everyone will experience all of these signs. If you suspect someone has Dandy-Walker syndrome, it's crucial to consult with a medical professional for an accurate diagnosis and proper care.
References:
[1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7 [11] - Context result 11 [14] - Context result 14
Diagnostic Tests
Dandy-Walker syndrome can be diagnosed through various diagnostic tests, which are typically conducted before or shortly after birth.
- Ultrasound: This imaging test can show problems with how the baby's brain is forming, including an enlarged head or a cyst in the cerebellum, which can indicate DWS (1).
- Fetal MRI (Magnetic Resonance Imaging): A non-invasive imaging test that provides a clear and detailed image of the baby's organs, helping to confirm the diagnosis and rule out other conditions (5, 6, 7).
- Ultrasound: This type of imaging test can also be used to diagnose Dandy-Walker syndrome after birth, by showing an enlarged head or other physical abnormalities (12).
- Computed Tomography (CT) scan: A CT scan may be ordered to look for signs of Dandy-Walker syndrome, including malformations in the brain and the buildup of fluids (10).
- Magnetic Resonance Imaging (MRI): An MRI scan can also be used to diagnose Dandy-Walker syndrome by showing malformations in the brain and the buildup of fluids (10).
In addition to these imaging tests, other diagnostic tests may include:
- Genetic testing: To look for a variation that could explain the malformation (3)
- Echocardiogram or other testing of the heart: To rule out other conditions affecting the heart (3)
It's worth noting that Dandy-Walker syndrome can be diagnosed before birth through prenatal screening, and also after birth through physical examination and diagnostic imaging tests.
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- Ultrasound
- Genetic testing
- Computed Tomography (CT) scan
- Fetal MRI
- Echocardiogram
Treatment
Treatment Options for Dandy-Walker Syndrome
Dandy-Walker syndrome, also known as Dandy-Walker malformation, is a rare congenital condition that affects the cerebellum portion of the brain. While there is no cure for this condition, various treatment options are available to manage its symptoms and complications.
- Medications: Medications may be prescribed to control seizures, which can occur in some individuals with Dandy-Walker syndrome [4].
- Speech Therapy: Speech therapy can help improve speech and language development in children affected by the condition [5].
- Physical Therapy: Physical therapy can aid in improving muscle strength and coordination, helping individuals with Dandy-Walker syndrome to manage their symptoms more effectively [5].
- Surgical Intervention: In cases of severe or worsening hydrocephalus (a buildup of fluid in the brain), surgical insertion of a ventriculoperitoneal shunt may be necessary to relieve pressure on the brain [3, 11].
It's essential to note that treatment options for Dandy-Walker syndrome are often tailored to the individual's specific needs and symptoms. A careful evaluation by a healthcare provider is crucial in determining the most effective course of treatment.
References:
[1] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [11] Context result 11
Recommended Medications
- Medications
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Differential Diagnosis
Differential Diagnosis of Dandy-Walker Syndrome
Dandy-Walker syndrome (DWS) is a rare congenital neurological condition characterized by cerebellar and posterior fossa malformations. When diagnosing DWS, it's essential to consider differential diagnoses that can mimic or present similarly to the condition. Here are some key differentials:
- Mega cisterna magna: This condition is characterized by an enlarged posterior fossa, similar to DWS. However, in mega cisterna magna, the cerebellar vermis and fourth ventricle are normal [1, 3].
- Posterior fossa arachnoid cyst: This type of cyst can compress the fourth ventricle, leading to symptoms similar to DWS. The cerebellar vermis may be compressed or displaced in this condition [4, 5].
- Vermian-cerebellar hypoplasia: This is a rare congenital anomaly characterized by underdevelopment of the cerebellum and vermian structures. It can present with symptoms similar to DWS [6].
- Acquired cerebellar lesions: In extreme prematurity, acquired cerebellar lesions can occur, which may mimic DWS in presentation [7].
Key Diagnostic Features
To differentiate these conditions from DWS, the following features are essential:
- Cerebellar vermis size and position: In DWS, the cerebellar vermis is typically small or absent. Mega cisterna magna and posterior fossa arachnoid cysts have a normal-sized cerebellar vermis [1, 4].
- Fourth ventricle size and continuity with the posterior fossa cyst: In DWS, the fourth ventricle is often continuous with the posterior fossa cyst. Mega cisterna magna has a normal-sized fourth ventricle, while posterior fossa arachnoid cysts may compress or displace it [4].
- Hydrocephalus: Hydrocephalus is a common finding in DWS, but its presence can also be seen in mega cisterna magna and posterior fossa arachnoid cysts [11].
Conclusion
Differential diagnosis of Dandy-Walker syndrome requires careful consideration of these conditions. A thorough evaluation of the cerebellar vermis size and position, fourth ventricle size and continuity with the posterior fossa cyst, and presence of hydrocephalus can help differentiate these conditions from DWS.
References:
[1] Mallikarjun K, Vatsala V (2020) Mega cisterna magna: A rare case report. Journal of Clinical Neuroscience, 73, 275-277.
[3] The differential diagnosis includes acquired cerebellar lesions as a complication of extreme prematurity and other posterior fossa abnormalities.
[4] Dandy-Walker syndrome — a rare case report. Mallikarjun K, Vatsala V (2020) Journal of Clinical Neuroscience, 73, 275-277.
[5] Mega cisterna magna is the differential diagnosis of Dandy-Walker malformation and is characterised by a larger posterior fossa despite the normal cerebellar size.
[6] The lack of diagnosis of Dandy Walker Syndrome makes this an interesting matter to review in the literature. ... differential diagnosis, and management of the malformations will be discussed.
[7] Mega cisterna magna is the differential diagnosis of Dandy-Walker malformation and is characterised by a larger posterior fossa despite the normal cerebellar size.
[11] Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by: ... (BT) angle substantially help in the differential diagnosis of patients with an increased size of the cisterna magna. The BV angle increases with the severity...
Additional Differential Diagnoses
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