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Show loumal of Clinical Neuro- ophthalmology 9( 4): 241, 1989 Editorial Comment © 1989 Raven Press, Ltd., New York Schilder's Disease and Adrenoleukodystrophy The article by Drs. Lana- Peixoto and dos Santos on " Schilder's myelinoclastic diffuse sclerosis" in this issue of the Journal of Clinical Neuro- ophthalmology describes a very interesting neuroophthalmic problem seen in a 14- year- old young girl in Brazil. It has been recognized in recent years that the entity formerly called Schilder's disease in the literature represented the condition more recently defined as adrenoleukodystrophy. Dr. Lana- Peixoto's paper was kindly reviewed by Prof. Hugo W. Moser of Johns Hopkins University, one of the world authorities in pediatric leukodystrophies. Dr. Moser wrote in his review, " This interesting paper shows a striking favorable response to steroids in a 14- year- old girl with presumed Schilder's myelinoclastic diffuse sclerosis. As the authors note, the major differential is from adrenoleukodystrophy. Adrenoleukodystrophy is made much less likely by the patient's female sex, normal adrenal function, and absence of electron microscopic inclusions. However, to rule out adrenalleukodystrophy beyond doubt, very long chain fatty acids should be studied in plasma and cultured skin fibroblasts." Dr. Moser volunteered to do these special studies- i. e., measuring long chain fatty acids in plasma and cultured skin fibroblasts- in his laboratory. He thought the CT scan was highly compatible with adrenoleukodystrophy and that the tests done did not rule it out unequivocally. We therefore wrote the authors in Brazil and made these suggestions. However, Dr. Lana- Peixoto wrote back that they have been trying to get in touch with the patient without success. She moved away to the countryside, and no response to a telegram at her new address was received. Dr. LanaPeixoto humbly suggested that if the paper could be published without data concerning plasma very long chain fatty acids- as actually almost all accepted cases of Schilder's disease had been- he would appreciate it, and if the patient could be localized and a plasma analysis obtained, an addendum or supplementary letter to the editor would be sent. That seemed reasonable, and therefore this interesting case has been published. It is 241 believed that the correspondence and workup suggestions would be helpful to the clinician seeing a case with a similar differential diagnosis. The action behind the scenes often supplements the original reports, I believe! Dr. Fishman recently brought to my attention an ll- year- old boy who had experienced a rapid drop of vision in both eyes at age 6 in Chicago and showed an unusual pigmentary retinopathy. He had apparently remained normal, except for being legally blind, until December 1988, when he developed generalized seizures. The patient was seen by Dr. John Susac, an editorial board member of this Journal. It appeared clinically likely that the boy had a form of cerebromacular degeneration. When considering such formidable studies as brain biopsy, rectal muscle or sural nerve biopsy or the like, Dr. Susac suggested the simple expedient of looking at a stained peripheral blood smear on the boy. This was done and immediately revealed abnormal lymphocytes with cytoplasmic vacuoles and granuoles. This allowed the diagnosis of neuronal ceroid lipofuscinois ( Batten- Vogt's disease) to be made in this young boy without additional and more unpleasant and expensive studies being necessary. An excellent chapter/ review on that syndrome is chapter 27, " Neuronal ceroid lipofuscinosis ( Batten- Vogt's disease)," on pp. 299- 317 of " Neuro- ophthalmology Focus 1982," Masson Publishing Co., New York, written by Drs. Scott Jaben and John T. Flynn and edited by the undersigned. On page 308 of that article are two nice light microscopic smears showing vacuolated lymphocyte and azurophilic hypergranulated polymorphonuclear leukocyte from a patient with this disease. The reason this reference is cited is that these cases are quite rare in practice, and it helps the clinician seeing such cases to remember to send plasma on a case of suspected Schilder's disease up to Dr. Moser, and to simply check a peripheral blood smear on a child with a suspected cerebromacular degeneration, as both may be extremely helpful in pinning down these difficult diagnoses. J. Lawton Smith, M. D. Editor |