Mr.Gianmarco Coniglio was recently admitted to the Clinical Center of the National Istitutes of Health for an evalution of leukodystrophy of unknown cause.Copies of his laboratory data are enclosed for your files.
Gianmarco, now 4,5 years of age, has a progressive white matter disease that had its onset at around age 3 years after a mild head trauma.
Over the subsequent 1.5 years he progressively deteriorated, and is currently unable to walk unsupported, and has difficulty sitting for a prolonged period of time.His cognitive level has remained normal.
Gianmarco has an extensive and excellent evaluation prior to coming to the NIH.
His older sister died of the same disorder at age 4 years.His clinical course and her findings on heard MRI resembles those of patients we described as Childhood Ataxia with Central Nervous Sistem Hipomyelination or CACH (Schiffmann, R., Moller, J.R., Trapp, B.D.et al. Childood ataxia with central nervous system hypomyelination. Ann Neurol,35:331-340,1994).
His magnetic resonance spectroscopy imaging showed decreased choline, creatine and N-acetyl aspartate over the white matter (Tedeschi, G., Schiffmann, R., Barton, N.W., Shih, H-H.L., Gospe, S.M., Brady, R.O., Alger, J.R. And Di Chiro, G.
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination (CACH).
Neurology, 45:1526-1532,1995). Gianmarco is therefore a rather typical CACH patient. It should be added that the first MRI that Gianmarco had, at the time when no neurological deficit was present, already showed diffuse white matter abnormality that spared the subcortical U fibers.
We would like to emphasize that since we do not have a biochemical marker for this disease, we have no solid evidence that these patients represent a genetically homogenous disorder.
We Will be happy to see Gianmarco again for a follow up in a year, here at the NIH Clinical Center.
If You have any questions concerning the enclosed information, please contact my office at 301-496-1465.
Thank you for referring Heather for evaluation at the NIH.

Sincerely yours,

Raphael Schiffmann,M.D.
Chief, Clinical Investigation Section
Developmental and Metabolic Neurology Branch
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Building 10, Room 3D03
Bethesda, MD 20892