Monday, June 16, 2014


This child appeared healthy in her first year of life. She began walking at the appropriate milestone but was slow to develop fluidity of gait. She can't even stand still without wobbling. She walks with an unusually narrow base and in fact, prefers to run. She doesn't fall very often, and she's been diagnosed with mild cerebral palsy. Her gross motor skills were fairly normal until school age when both gross and fine motor skills show deficits. She develops dysarthria and complex disorders of movement. She even needs a wheelchair out of the house.

Her teacher notices some ophthalmic abnormalities. Her eyes saccade strangely; she cannot move her eyes and head in smooth pursuit of a moving target. There is a delay in initiation of eye movement and her eyes move in a series of small jumps rather than a single smooth motion. She can read single words and short phrases but cannot read longer passages.

When she talks, she is slow to initiate speech, and speech is slow with inappropriate emphasis on single words and syllables. She has trouble chewing and swallowing, and when she was ten, she had an aspiration pneumonia. In fact, she has had multiple pneumonias and sinus infections.

Exam shows dystonia and chorea. You note the eye finding above.

Challenge: What's your diagnosis?

Image shown under GNU Free Documentation License.

1 comment:

Craig Chen said...


This is ataxia-telangiectasia, an autosomal recessive disorder associated with defective DNA repair mechanisms. The eye findings include oculomotor apraxia. Telangiectasias are seen on the bulbar conjunctiva.

Sources: UpToDate; Wikipedia.