15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy ... more 15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition.
Since the age of three years the patient suffered from early drug-resistant partial epilepsy with... more Since the age of three years the patient suffered from early drug-resistant partial epilepsy with electric status during slow sleep, owing to a micropolygyric malformation of the right fronto-temporo-parietal lobes. The hemispherotomy (when five years of age) was followed by immediate and persistent disappearance of the seizures and withdrawal of the treatment. The transfer of right hemispheric functions to the left hemisphere occurred very early; the child's development was examined in relation to the restoration of these functions and the age at surgery. The early surgical intervention and the plasticity of the brain - along with an intensive cognitive rehabilitation - seem to be important in determining the favorable global cognitive outcome. Visuo-spatial abilities and multi-modal integration of these functions with memory, attention and language have been the most critical domains and are recently in progress. The rapidity of processing complex tasks is particularly lacking. This seems to be the expression of the defective development of the Central Executive System.
Leber's hereditary optic neuropathy is a maternally transmitted disease resulting... more Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.
15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy ... more 15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several affected members carry a 15q13.3 microdeletion in a pattern suggestive of autosomal dominant inheritance. Their phenotype includes mainly absence epilepsy and mild ID, suggesting only similarities with genetic/idiopathic generalized epilepsies but not typical features. The importance of studying such families is crucial to broaden the phenotype and understand the long-term outcome of patients with this condition.
Since the age of three years the patient suffered from early drug-resistant partial epilepsy with... more Since the age of three years the patient suffered from early drug-resistant partial epilepsy with electric status during slow sleep, owing to a micropolygyric malformation of the right fronto-temporo-parietal lobes. The hemispherotomy (when five years of age) was followed by immediate and persistent disappearance of the seizures and withdrawal of the treatment. The transfer of right hemispheric functions to the left hemisphere occurred very early; the child's development was examined in relation to the restoration of these functions and the age at surgery. The early surgical intervention and the plasticity of the brain - along with an intensive cognitive rehabilitation - seem to be important in determining the favorable global cognitive outcome. Visuo-spatial abilities and multi-modal integration of these functions with memory, attention and language have been the most critical domains and are recently in progress. The rapidity of processing complex tasks is particularly lacking. This seems to be the expression of the defective development of the Central Executive System.
Leber's hereditary optic neuropathy is a maternally transmitted disease resulting... more Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.
Uploads
Papers by Irene Bagnasco