Medical Summary

This isn’t new news but just medical information from July I’ve been meaning to post for a while. Maybe someone out there has seen this cluster of symptoms before and has a diagnosis to suggest. Worth a shot. Anyway I’ve copied this over from her MRI report.

Clinical data: 4-month-old with developmental delay, seizures and nystagmus

Findings:

–       Borderline appearance of craniofacial ratio which could reflect some element of microcephaly.

–       Attenuated appearance of the corpus callosum.

–       Associated diminished volume of white matter within both cerebral hemispheres.

–       Slight asymmentrical prominence of the left lateral ventrical and some prominence of the sylvian cisterns.

–       Unremarkable appearance of the deep gray nuclei, brainstem and cerebellum (I think this is the good part).

Impression: Findings on the study are felt to be nonspecific. They may reflect changes associated with a chromosomal/genetic disorder or an inborn error of metabolism. Findings related to a primary leukodystrophy would also be a consideration. And this is my favorite sentence because it sounds like a good thing but I have no idea what it means – No enhancing abnormalities are identified on the post gadolinium sequences.

And I should mention that where we are at now is waiting for the results of a metabolic test and a genetics test, both of which will take awhile. We might be able to get a diagnosis at that time.

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