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2011, Number 6

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Acta Pediatr Mex 2011; 32 (6)

Van Der Knaap disease (megaencephalic leukoencephalopathie with bitemporal cysts) in a Mexican child

Peña-Landín D, Dávila-Gutiérrez G, Gómez-Garza G, Serna MÁ

Language: Spanish
References: 30
Page: 359-366
PDF size: 897.40 Kb.


ABSTRACT

The advent of the International Project for the Study of Myelin Diseases, the current advances in molecular genetics and the imaging studies, have permitted the diagnosis of infrequent leucodystrophies, not previously identified.
We describe the case of a nine year-old Mexican child with a history of parental consanguinity and a progressive deteriorative neurological syndrome associated with epilepsy. His imaging studies showed generalizad leukodystrophia with bitemporal cysts and megalencephaly. There are only 3 cases reported in Mexico. The one we report is one of them. The purpose of this paper is to alert pediatricians on the diagnosis of this condition and to analyze the clinical, imaging and laboratory characteristics compared with current information in literature.


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