ABSTRACT
AIM: To report a patient with Huntington's disease, confirmed by a molecular genetic study, presenting with clinical features suggesting Tourette's syndrome. CASE REPORT: A thirty-years male with personal antecedents of perinatal hypoxia, but normal development; and family history (paternal grandfather) of 'abnormal repetitive movements of the upper limbs' of adult onset. He had multiple motor tics since teenage, and associated vocal tics, bruxism, and compulsions with auto-and heteroaggresivity. Neurological examination showed motor tics in the orolingual area and occasional vocal tics. Neuropsychological examination showed a mild impairment of short-term memory and language. Analytical studies including blood smears to see acanthocytes and copper metabolism studies were normal, as it was a MRI imaging. The molecular genetic study of the patient showed 46 repeats of CAG triplets in the exon 1 of the IT-15 genes, while his father (who was asymptomatic) showed 40 repeats. It was not possible to study the paternal grandfather. CONCLUSIONS: The clinical onset of Huntington's disease mimicking Tourette's syndrome is infrequent. This diagnosis should be taken in mind in patients with possible Tourette's syndrome and atypical neuropsychiatric features.
Subject(s)
Huntington Disease/diagnosis , Huntington Disease/physiopathology , Tourette Syndrome/diagnosis , Tourette Syndrome/physiopathology , Adolescent , Adult , Humans , Huntington Disease/complications , Huntington Disease/genetics , Male , Repetitive Sequences, Nucleic Acid , Tourette Syndrome/etiologySubject(s)
Herpes Zoster/complications , Horner Syndrome/etiology , Thorax/virology , Humans , Male , Middle Aged , Thorax/pathologyABSTRACT
INTRODUCTION: Arachnoid cysts are cavities with a content similar to cerebrospinal fluid, frequently communicating with the subarachnoid space. They make up 1% of the intracranial space occupying lesions, and although typically seen in children (13%), they may be undiagnosed until the patient has become adult. PATIENTS AND METHODS: We review a series of 35 cases of congenital intracranial arachnoid cysts in children, which had been investigated in the Neuropaediatric Department during 1987 1999. The patients had had cranial CAT and MR, and transcranial echography studies. RESULTS: In 85.7% there was a single cyst. The Sylvan fissure and posterior fossa were the commonest sites. The age of diagnosis was under 1 year in 54.3% and at birth in 25.7%. There were other associated malformations of the central nervous system in 31.4%, with agenesis of the corpus callosum in 45.5%. The most frequent clinical features on presentation of the condition were macrocephaly (31.4%) and epileptic crises (25.7%). The surgical treatment most often used was cystoperitoneal shunt. CONCLUSIONS: Congenital arachnoid cysts are caused by alteration in the embryogenesis of the central nervous system, and hence their association with other malformations and prevalence in children. The most frequent clinical findings were macrocephaly, due to the size of the cyst or the associated hydrocephaly, and epileptic seizures secondary to cortical irritation caused by pressure. Management of symptomatic lesions is surgical. The cystoperitoneal shunt was generally used in our series, since this was followed by clinical improvement in most cases.
Subject(s)
Arachnoid Cysts/diagnosis , Brain/diagnostic imaging , Brain/pathology , Adolescent , Adult , Arachnoid Cysts/complications , Arachnoid Cysts/congenital , Brain/abnormalities , Child , Child, Preschool , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Seizures/diagnosis , Seizures/etiology , Tomography, X-Ray ComputedABSTRACT
Introducción. Los quistes aracnoideos son cavidades con un contenido similar al LCR, frecuentemente comunicados con el espacio subaracnoideo. Representan el 1 por ciento de las lesiones ocupantes de espacio intracraneales y, aunque son característicos de la edad pediátrica, pueden no diagnosticarse hasta la edad adulta. Pacientes y métodos. Se revisa una serie de 35 casos de quistes aracnoideos intracraneales congénitos en la edad pediátrica durante los años 1987-1999 estudiados en la sección de Neuropediatría del Hospital 12 de Octubre (Madrid, España). Los pacientes se han estudiado con TAC y RM craneal y ecografía transcraneal. Resultados. La presencia de un único quiste sucedió en un 85,7 por ciento: la cisura de Silvio y la fosa posterior fueron las localizaciones más frecuentes. La edad de diagnóstico ocurrió durante el primer año en un 54,3 por ciento y al nacer en un 25,7 por ciento. Se asociaron a otras malformaciones del SNC en un 31,4 por ciento, y destaca la agenesia del cuerpo calloso en un 45,5 por ciento. La clínica de presentación más frecuente fue la macrocefalia (31,4 por ciento) y las crisis epilépticas (25,7 por ciento). El tratamiento quirúrgico más empleado fue la derivación cistoperitoneal. Conclusiones. El quiste aracnoideo congénito ocurre por una alteración en la embriogénesis del SNC, de ahí su asociación con otras malformaciones y la prevalencia en la edad pediátrica. La clínica más frecuente fue la macrocefalia, por el tamaño del quiste o por hidrocefalia asociada, y las crisis epilépticas secundarias a irritación cortical por presión. El manejo de las lesiones sintomáticas es quirúrgico; la derivación cistoperitoneal es la más empleada en nuestra serie, y con ella se obtuvo una mejoría clínica en la mayoría de los casos (AU)
