Revista de neurologia · 2002
[Dysmorphology, genetics and infantile neurology].
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Rufo-Campos M
Аннотация
INTRODUCTION: Dysmorphology is a relatively modern science which is very wide, continuously advancing and inevitably related to infantile neurology and genetics.
DEVELOPMENT: A neuropaediatrician, before making indiscriminate use of such major complementary investigations as neurogenetics and imaging techniques to diagnose a dysmorphic syndrome, should obtain a detailed clinical history and, particularly, a very careful physical examination, including adequate neurological examination. Thus in neuropaediatrics the final diagnosis and early determination of normality or abnormality is based on two things: the clinical semiology derived from the clinical history and neurological examination, and complementary investigations (sophisticated or not) which make us relate these findings to clinical data.
RESULTS: A large proportion of neurological disorders, especially those involving the intellect, are found in patients with some type of chromosome anomaly, which cause less than 6% of all malformations of the central nervous system. At the present time a wide range of dysmorphic syndromes are recognized, with or without accompanying chromosome anomalies. Many of these are also associated with mental deficiency or signs of neurological deficiency. Genetic studies should be requested when monogenetic disorders or mitochondrial disorders are suspected, and in multifactorial disorders. It has been shown that the presence of minor dysmorphic defects in children with epileptic seizures is associated with a much worse prognosis, possibly because it is also associated with cerebral malformations. Often these minor anomalies are seen in similar form in close relations of the children involved. It is therefore necessary to take care in evaluation of these defects.
DEVELOPMENT: A neuropaediatrician, before making indiscriminate use of such major complementary investigations as neurogenetics and imaging techniques to diagnose a dysmorphic syndrome, should obtain a detailed clinical history and, particularly, a very careful physical examination, including adequate neurological examination. Thus in neuropaediatrics the final diagnosis and early determination of normality or abnormality is based on two things: the clinical semiology derived from the clinical history and neurological examination, and complementary investigations (sophisticated or not) which make us relate these findings to clinical data.
RESULTS: A large proportion of neurological disorders, especially those involving the intellect, are found in patients with some type of chromosome anomaly, which cause less than 6% of all malformations of the central nervous system. At the present time a wide range of dysmorphic syndromes are recognized, with or without accompanying chromosome anomalies. Many of these are also associated with mental deficiency or signs of neurological deficiency. Genetic studies should be requested when monogenetic disorders or mitochondrial disorders are suspected, and in multifactorial disorders. It has been shown that the presence of minor dysmorphic defects in children with epileptic seizures is associated with a much worse prognosis, possibly because it is also associated with cerebral malformations. Often these minor anomalies are seen in similar form in close relations of the children involved. It is therefore necessary to take care in evaluation of these defects.