The worster-drought and congenital perisylvian syndromes—a continuing question mark

Correspondence The Worster-Drought and Congenital Perisylvian Syndromes—A Continuing Question Mark To the Editor: The publication in your February 2001 issue of this case report by the group from Tel Aviv raises the issue of whether WorsterDrought syndrome and congenital perisylvian syndromes are part of the same spectrum [1]. We have a quite large experience with Worster-Drought syndrome and have published a review of 47 cases in Brain last year [2]. We suspect that the paper in Pediatric Neurology had been accepted long before our review came out. That review of the clinical, to a certain extent genetic, and, specifically, the radiologic findings strongly supported the view that Worster-Drought syndrome and congenital perisylvian syndrome were indeed part of a continuum. In addition to the reported review of these cases, a prospective study is nearing completion, and we predict that this will strengthen this association. It is of great interest that a condition can be described from two apparently totally different points of view, one as a form of cerebral palsy and the second as a form of childhood epilepsy and that the two conditions can continue in the literature in parallel for quite a long time before the two “camps” meet and conclude they are both looking at the same condition. Additional work is needed on this group of conditions, but we certainly agree with the conclusion of the Tel Aviv group. Brian Neville, MB Maria Clark, MB Lucinda Carr, MD Sheena Reilly, PhD Institute of Child Health University College of London London, United Kingdom

References [1] Nevo Y, Segev Y, Gelman Y, Rieder-Grosswasser I, Harel S. Worster-Drought and congenital perisylvian syndromes—a continuum? Pediatr Neurol 2001;24:153–155. [2] Clark M, Carr L, Reilly S, Neville Brian GR. Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Brain 2000;123: 2160 –2170.

Response: We thank Professor Neville et al. for their comments regarding our article [1]. We presented a child whose clinical manifestations and radiologic findings implied that Worster-Drought syndrome (WDS) and congenital perisylvian syndrome are a part of a continuum. We are pleased that additional clinical and radiologic data and the extensive experience of the above group from London strongly support this notion [2]. The child in question presented at age 5 years with severe dysarthria and difficulty in moving her tongue and swallowing, drooling, and increased mental reflex. She had normal cognitive

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function and no pyramidal signs of the limbs. MRI of the brain revealed perisylvian and frontal polymicrogyria. On a follow-up visit at 6 years of age, the parents reported an occurrence of two seizures. The classical presentation of Worster-Drought syndrome as isolated suprabulbar palsy is relatively rare. Awareness of the wider range of clinical features relating to this syndrome would probably help early diagnosis in these children, assist in elucidating associated complications, and encourage early intervention. We definitely support the conclusion that further data is required to enhance our understanding of the etiology, clinical categorization and anatomic-clinical correlation in these patients. Yoram Nevo, MD Head, Pediatric Neuromuscular Service Tel Aviv Sourasky Medical Center Tel Aviv, Israel

References [1] Nevo Y, Segev Y, Gelman Y, Rieder-Grosswasser I, Harel S. Worster-Drought and congenital perisylvian syndromes—a continuum? Pediatr Neurol 2001 Feb;24:153–155. [2] Clark M, Carr L, Reilly S, Neville BG. Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases. Brain 2000 Oct;123:2160 –2170.

Update on White Matter Genetic Disorders To the Editor: In the January issue (Pediatr Neurol 2001;24:11–24), Edward Kaye offered an elegant review of the rapid advances being made in the identification, classification, and understanding of white matter diseases. With regard to Alexander’s disease, Dr. Kaye referred to preliminary work by us and our colleagues implicating GFAP mutations as the likely cause of this previously mysterious disorder. This work has now been published (Brenner et al., Nat Genet 2001;27:117–20) and demonstrates that nearly all patients with pathologically proven Alexander’s disease carried heterozygous missense mutations in the coding region of GFAP. The mutations occurred de novo (i.e., were not found in peripheral blood of all seven sets of parents available for testing), and are predicted to act in a dominant fashion. A review on Alexander’s disease that discusses these new genetic findings and their implications for clinical practice will appear in the June issue of the Journal of Neuropathology & Experimental Neurology. To improve estimates of allele frequency, strive for correlations between particular mutations and clinical course, and possibly identify new GFAP mutations, we continue to seek DNA samples from patients with likely or proven diagnoses of Alexander’s disease. Our institutional review boards have approved reporting of results back to physicians or families in the event that any of the published mutations are found. For additional information, please contact any of the authors listed below (Messing, 608-263-9191, [email protected]; Brenner, 205-934-1011, [email protected]; Johnson, 718-430-

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