Author: Joshua Alexander, MD
HISTORY:
A doctor walked into an exam room to find a young girl sitting quietly on her mother?s lap. This 2 year old girl had been brought to the office by her mother and grandmother who were worried about delays in her walking and talking.
The girl?s mother was very soft-spoken, and it was her grandmother who began answering the doctor?s questions. The girl had been born on time and weighed about 6 pounds at birth. Her mother was 27 years old at the time and had had a normal pregnancy and delivery.
The girl first learned to sit by herself when she was 6 months old but, while she was now able to stand up by holding onto furniture, she was not yet able to stand or take steps by herself. She could say dada, hey, and mama, but nothing else yet. She could scribble, switch toys from one hand to the other, and feed herself with a spoon.
The girl was happy and cooperative on examination and appeared to be growing well. Her vision and hearing seemed to be fine and her heart, lungs, and abdomen exams were normal. Her muscle strength and tone appeared normal, her joints moved well, and her skin didn?t have any rashes or abnormal marks.
When she stood up, however, the normal examination changed. She had trouble standing up without holding onto the exam table, kept her feet far apart when taking steps, and appeared unsteady when reaching for toys. When she spoke, her words came out slurred and hard to understand.
What was happening? Apparently, the girl had poor balance and difficulty speaking, but why? Could it be a balance problem? A tumor? Poisoning? The possibilities swirled around the doctor?s head. Then the mother spoke.
?Ya know,? She said, in a voice that was slow and slurred, ?I don?t see what y?all are so worried about. She talks a lot like I did at that age.? Interested to learn more, the doctor asked the grandmother about her own daughter?s development. ?Yes, she (the mother) was a slow walker and looked a lot like my granddaughter did. We brought her in to this same hospital and had her checked out?.
The examination continued, but this time, it was the mother who was asked to stand up. She got up shakily and walked with decreased balance. She also had trouble trying to touch objects with her index finger. It appeared that this girl had the same condition as her mother.
The girl was scheduled to have an MRI x-ray to examine the cerebellum (the part of the brain that controls balance) and a trip to the hospital?s medical records department turned up the results of her mother?s brain scan done twenty-five years before.
The results of both x-rays, done 25 years apart, showed a poorly formed cerebellum. The family was informed that the girl?s delay in development was likely due to the same cause as her mother?s condition, and they were referred to the genetics clinic to look further into this syndrome.
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