Justyna Paprocka, Ewa Jamroz, Maciej Kajor, Elżbieta Marszał, Ewa Kluczewska
CaseRepClinPractRev 2002; 3(1):31-35
Background: The Andermann syndrome is connected with one ethnic group, canadian population of Quebec. Criteria for diagnosis of Andermann’s syndrome comprise corpus callosum agenesis, mental retardation, sensory-
motor neuropathy and facial dysmorphy. This autosomal recessive disorder was first described in the 1970s in a group of children in Montreal. Andermann syndrome is characterised by progressive course and bad
prognosis. Agenesis of corpus callosum may be connected with chromosomal abberations (trisomy of chromosome 6p, 8, 13, 21, 22, partial deletion of chromosome 3q, monosomy of 4p, 6q, 11q, 21q, 4p duplication) or
exists with many of metabolic diseases (Menkes, Krabbe and Leigh disease, Zellweger syndrome, non-ketotic hyperglycynaemia, mucosaccharidosis type II and IV and Hurler syndrome).
Case report: The authors present a 7 years old girl with agenesis of corpus callosum, epilepsy, axono-demyelinating neuropathy confirmed by peripheral nerve biopsy, developmental delay and dysmorphic features. The complete
clinical pictures supported the diagnosis of Andermann syndrome. The diagnostic procedures enabled to exclude aminoacidopathies, organic acidurias, peroxisomal disorder, mitochondrial cytopathy. The chromosomal
analysis showed correct female karyotype (46,XX).
Conclusions: Our case is an extremely interested example of sporadic incidence of Andermann syndrome in Europe. The Andermann syndrome has not been previously described in Poland. Only occasional cases have been
reported outside Canada which is connected with its endemic occurence and perhaps – with the fact that the syndrome is not well known by the doctors.
Keywords: Andermann syndrome, corpus callosum agenesis, neuropathy, Mental Retardation, dysmorphy, Epilepsy