Dandy–Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy

Dandy–Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy is a rare congenital brain malformation involving the cerebellum and the fluid-filled spaces around it. The hallmark of this condition is the enlargement of the fourth ventricle, a partial or complete absence of the cerebellar vermis, and cyst formation near the internal base of the skull. This article provides an overview of the condition, including its symptoms, diagnosis, and management.

Symptoms and Characteristics

The Dandy–Walker Malformation (DWM) presents a spectrum of symptoms and associated conditions, including:

• Mental Retardation: Individuals may experience varying degrees of intellectual disability.
• Macrocephaly: An abnormally large head size is often observed due to the accumulation of cerebrospinal fluid.
• Myopia: Near-sightedness or difficulty seeing distant objects clearly.
• Brachytelephalangy: Shortening of the distal phalanges, the bones at the tips of the fingers and toes.

Other symptoms may include problems with movement and coordination, delayed motor development, muscle stiffness, and convulsions.

Diagnosis

Diagnosis of Dandy–Walker Malformation typically involves imaging studies such as MRI (Magnetic Resonance Imaging) or CT scan (Computed Tomography). These imaging techniques allow for detailed visualization of the brain's anatomy, helping to identify the characteristic features of DWM.

Management and Treatment

There is no cure for Dandy–Walker Malformation, and treatment is symptomatic and supportive. Management strategies may include:

• Surgical Procedures: To manage hydrocephalus (accumulation of fluid in the brain), a shunt may be placed to drain excess fluid and relieve pressure.
• Therapeutic Support: Physical therapy, occupational therapy, and speech therapy can help improve motor skills, coordination, and communication abilities.
• Vision Care: Regular eye examinations and corrective lenses for myopia.

Prognosis

The prognosis for individuals with Dandy–Walker Malformation varies. Early intervention and management of symptoms can improve the quality of life. However, the presence of associated conditions, such as mental retardation and myopia, can impact overall prognosis.

See Also

• Cerebellum
• Hydrocephalus
• Magnetic Resonance Imaging
• Computed Tomography

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