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Reply to the letter by R.N. de Silva
ClinicalNeurolop and Neurosurgery, 95 (1993) 3.24 Q 1993 Elsevier Science Publishers B.V. all rights reserved 0303-8467/93/$06.00
324 CLINEU 003332
Letter to the Editor
Reply to the letter by R.N. de Silva B.M. van Gee1 a9*,J. Assies b and P.G. Barth a Departments of aNeurology and Paediatrics, and bPsychiatry and Internal Medicine, Academic Medical Center, Meibergdreef 9, I IO5 AZ Amsterdam, The Netherlands (Received 22 October, 1993) (Accepted 22 October, 1993)
Key words: X-linked adrenoleukodystrophy;
Differential diagnosis
Dear Sir, Our article was indeed intended as a reminder for clinicians to consider X-linked adrenoleukodystrophy (XALD) in the differential diagnosis of, among others, spastic paraplegia and primary adrenocortical insufficiency. Measures to be taken after diagnosis of X-AID include genetic counseling, aiming at the prevention of new cases, and family screening to identify affected relatives. The dietary therapies with glyceroltrioleate (GTO) and glyceroltrierucate (GTE), and bone marrow transplantation were intentionally mentioned because the efficacy of these therapies is intensively studied. We did not aim at giving a summary of other therapies, including the immune-modulating ones. The thrombocytopenia occurring in patients who are on the diet was beyond the scope of our article as well. But since thrombocytopenia was discovered by Moser’s group, the platelet count of our patients is carefully monitored, and we adjust the amount of GTE to the thrombocyte count. In approximately 50% of the 30 Dutch patients who use the diet, a decrease in platelet count has been found (unpublished data). Recently 33 heterozygotes were examined by members of the Dutch X-ALD/AMN Study Group during the screening of families. Nine had unmistakable neurological abnormalities, and 8 of 11 female carriers over 50 showed hyperreflexia and bilateral Babinski signs (unpublished data). There may be a relation between advanc-
*Corresponding
author. Tel.: (20) 566 2851; Fax: (20) 691 7735.
ing age and the occurrence of demyelination within the nervous system in heterozygotes. Because of this the total percentage of heterozygotes with neurological symptoms is difficult to assess. The occurrence of endocrine disorders in heterozygotes has not been studied extensively. Besides the 9 heterozygotes with primary adrenocortical insufficiency mentioned by Moser et al. [ 1 J, at least another 8 cases have been reported from 1973 onwards [2,3]. A connection between poly-endocrine autoimmune disease and XALD is shown by reports of Dumic et al. [3] and Federico et al. [4].
References
Moser, H.W., Moser A.B., Naidu, S. and Bergin, A. (1992) Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev. Neurosci., 13; 256261. Pilz, P. and Schiener, P (1973) Kombination von Morbus Addison und Morbus Schilder bei einer 43jiihrigen Frau. Acta Neuropathol., 26: 357-360. Dumic, M., Gubarev, N., Sikic, N. et al. (1992) Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy. { 11 )Am. J. Med. Genet., 43; 829-832. Federico, A., Dotti, M.T., Anmmziata, P. et al. (1988) Admnomyeloneuropathy with late cerebral involvement and evidence of a multiple autoimmune disorder. J. Inherit. Metab. Dis., 1I (Suppl. 2): 169-172.
324 CLINEU 003332
Letter to the Editor
Reply to the letter by R.N. de Silva B.M. van Gee1 a9*,J. Assies b and P.G. Barth a Departments of aNeurology and Paediatrics, and bPsychiatry and Internal Medicine, Academic Medical Center, Meibergdreef 9, I IO5 AZ Amsterdam, The Netherlands (Received 22 October, 1993) (Accepted 22 October, 1993)
Key words: X-linked adrenoleukodystrophy;
Differential diagnosis
Dear Sir, Our article was indeed intended as a reminder for clinicians to consider X-linked adrenoleukodystrophy (XALD) in the differential diagnosis of, among others, spastic paraplegia and primary adrenocortical insufficiency. Measures to be taken after diagnosis of X-AID include genetic counseling, aiming at the prevention of new cases, and family screening to identify affected relatives. The dietary therapies with glyceroltrioleate (GTO) and glyceroltrierucate (GTE), and bone marrow transplantation were intentionally mentioned because the efficacy of these therapies is intensively studied. We did not aim at giving a summary of other therapies, including the immune-modulating ones. The thrombocytopenia occurring in patients who are on the diet was beyond the scope of our article as well. But since thrombocytopenia was discovered by Moser’s group, the platelet count of our patients is carefully monitored, and we adjust the amount of GTE to the thrombocyte count. In approximately 50% of the 30 Dutch patients who use the diet, a decrease in platelet count has been found (unpublished data). Recently 33 heterozygotes were examined by members of the Dutch X-ALD/AMN Study Group during the screening of families. Nine had unmistakable neurological abnormalities, and 8 of 11 female carriers over 50 showed hyperreflexia and bilateral Babinski signs (unpublished data). There may be a relation between advanc-
*Corresponding
author. Tel.: (20) 566 2851; Fax: (20) 691 7735.
ing age and the occurrence of demyelination within the nervous system in heterozygotes. Because of this the total percentage of heterozygotes with neurological symptoms is difficult to assess. The occurrence of endocrine disorders in heterozygotes has not been studied extensively. Besides the 9 heterozygotes with primary adrenocortical insufficiency mentioned by Moser et al. [ 1 J, at least another 8 cases have been reported from 1973 onwards [2,3]. A connection between poly-endocrine autoimmune disease and XALD is shown by reports of Dumic et al. [3] and Federico et al. [4].
References
Moser, H.W., Moser A.B., Naidu, S. and Bergin, A. (1992) Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev. Neurosci., 13; 256261. Pilz, P. and Schiener, P (1973) Kombination von Morbus Addison und Morbus Schilder bei einer 43jiihrigen Frau. Acta Neuropathol., 26: 357-360. Dumic, M., Gubarev, N., Sikic, N. et al. (1992) Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy. { 11 )Am. J. Med. Genet., 43; 829-832. Federico, A., Dotti, M.T., Anmmziata, P. et al. (1988) Admnomyeloneuropathy with late cerebral involvement and evidence of a multiple autoimmune disorder. J. Inherit. Metab. Dis., 1I (Suppl. 2): 169-172.