ABSTRACT
The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.
Subject(s)
Ataxia , Hearing Loss, Sensorineural , Hereditary Central Nervous System Demyelinating Diseases/diagnosis , Adolescent , Adult , Brain/pathology , Child , Child, Preschool , Clinical Enzyme Tests , Consanguinity , Disease Progression , Female , Genes, Recessive , Hereditary Central Nervous System Demyelinating Diseases/genetics , Humans , Liver/diagnostic imaging , Liver/pathology , Magnetic Resonance Imaging , Male , Pedigree , UltrasonographyABSTRACT
A qualitative study was performed to investigate the individual experience of seizures and epilepsy in children and adolescents. Forty-one patients aged between 6 and 18 years old and affected with idiopathic epilepsy underwent one or more semi-structured interviews in a hospital day unit. Children aged 7 years or older could describe the experience of partial fits (in one case also of a presumably generalized fit). Seizures which occurred 6-12 months before had often been forgotten. Psychic involvement was reported in 90.3% cases, even when seizures had been classified as partial motor according to the parents' description. Social status and school achievement had no significant influence on the patient's ability to express his or her feelings, but some children had serious difficulty finding appropriate words to describe unfamiliar experiences; other patients used a simile, uncommon expressions or odd names to describe the fit. A poor relationship was found between seizure severity and patient's discomfort, and the image of the disease appeared independent of the experience of the seizures. As regards the epilepsy itself, patients seemed to suffer from generic problems rather than from specific concern about it, but some adolescents inserted their thoughts about the disease into reflections on their existential condition.
