I had a bomb dropped on me this morning! Returned a call I received from our neurologist's office and was given some news I never expected to get. Maeve had blood drawn so they could do a chromosomal analysis a while back and they came up with a genetic abnormality. We have been referred to a geneticist because Maeve has Miller-Dieker Syndrome which is: a syndrome characterized by a pattern of
abnormal brain development known as lissencephaly. Normally the
exterior of the brain (cerebral cortex) is multi-layered with folds and
grooves. People with lissencephaly have an abnormally smooth brain with
fewer folds and grooves. These brain malformations cause severe
intellectual disability, developmental delay, seizures, abnormal muscle
stiffness (spasticity), weak muscle tone (hypotonia), and feeding
difficulties. Seizures usually begin before six months of age, and some
occur from birth. Typically, the smoother the surface of the brain is,
the more severe the associated symptoms are.
Signs and Symptoms
Facial features:
- Small head
- Prominent forehead
- Hollowing of the temples
- Long philtrum (the area between the nose and the upper lip)
- Small upper lip
- Late tooth eruption
- Short nose
- Malpositioned or malformed ears
Other features:
- Lissencephaly (abnormally smooth surface of the brain)
- Epilepsy
- Mental and growth retardation
- Abnormalities in the brain, kidneys, heart, genitourinary system and gastrointestinal tract
- Hand and foot abnormalities
- Early hypotonia (decreased muscle tone), then subsequent hypertonia (increased muscle tone).
Right now this isn't sinking in yet, my mind is overloaded! The geneticist's office should be giving us a call to set up an appointment...what does this mean for her?
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