PCH


Jett's Diagnosis

Pontocerebellar Hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.

Researchers have described six forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.

Jett has Pontocerebellar Hypoplasia (PCH) Type 2 

Major features of pontocerebellar hypoplasia type 2 (PCH2) include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of speech and communication. Affected children typically develop jitteriness (generalized clonus), muscle spasms, and other movement abnormalities. Many also have impaired vision, seizures, and microcephaly that becomes more pronounced as the body grows. Another form of pontocerebellar hypoplasia, type 4 (PCH4), is very similar to PCH2. However, children with PCH2 often live into childhood, while those with PCH4 have serious breathing problems and usually do not survive past infancy.

In addition to PCH Type 2, Jett was born with a cleft lip and soft cleft palate.  His lip was repaired on May 3, 2012 and is healing wonderfully. 

None of these diagnoses were discovered on ultrasound.

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