Esclerodermia lineal en golpe de sable y epilepsia. A propósito de un caso infantil / Linear scleroderma en coup de sabre and epilepsy: Presentation of a case in a child

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[Mondini dysplasia: recurrent bacterial meningitis in adolescence]. / Displasia de Mondini: meningitis bacteriana recurrente en la adolescencia.

INTRODUCTION: Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. CASE REPORT: We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. CONCLUSIONS: Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

Displasia de Mondini: meningitis bacteriana recurrente en la adolescencia / Mondini dysplasia: recurrent bacterial meningitis in adolescence

Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. CASE . We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed...(AU)

Displasia de Mondini: meningitis bacteriana recurrente en la adolescencia / Mondini dysplasia: recurrent bacterial meningitis in adolescence

Introducción. Los episodios recurrentes de meningitis bacteriana pueden presentarse en pacientes por alteraciones congénitas o adquiridas. La deformidad congénita del laberinto óseo puede asociarse con un trayecto fistuloso entre éste y el espacio subaracnoideo intracraneal. La deformidad de Mondini es una malformación frecuente en pacientes con sordera congénita. Caso clínico. Adolescente con antecedente de no oír por un oído, que a partir de los 10 años de edad comenzó a presentar meningoencefalitis bacterianas de repetición, con aislamiento microbiológico en tres ocasiones de Streptococcus pneumoniae. El tipo de germen aislado en el líquido cefalorraquídeo (LCR) y el antecedente de sordera congénita que se detectó a los 3 años de edad fueron las pistas diagnósticas de la posible anomalía del oído interno con fístula de LCR. La rinorrea de LCR que se demostró clínicamente contribuyó al diagnóstico de anomalía del oído con fístula. Los estudios de tomografía axial computarizada y resonancia magnética del peñasco evidenciaron la malformación, que luego, en el acto operatorio del oído afectado, fue posible comprobar y cerrar. La ausencia clínica de rinorrea, la evolución sin nuevas infecciones un año después de operar a la paciente y los estudios posquirúrgicos con imágenes aportaron evidencias del cierre de la fístula. Conclusión. La displasia de Mondini con fístula de LCR debe ser una posibilidad diagnóstica ante un paciente con meningoencefalitis bacteriana de repetición. Los estudios de imágenes, sobre todo la resonancia magnética, permiten comprobar el diagnóstico, y la cirugía del oído permite el cierre de la fístula de LCR (AU)

[Myasthenia gravis in infancy. A report of 12 cases]. / Miastenia grave en la infancia. Presentación de 12 casos.

INTRODUCTION: Myasthenia gravis (MG) shows specific clinical features in children. It is essential to know this and also the use of diagnostic techniques used in infancy and childhood for correct diagnosis. OBJECTIVES: To analyze the clinical behaviour of this disorder and the use of complementary tests in the diagnosis of paediatric patients. PATIENTS AND METHODS: We studied a group of 12 children diagnosed as having MG, who were admitted to the Instituto de Neurolog a y Neurocirug a de Ciudad de La Habana (Cuba) between March 1997 and June 2001. Data were obtained from the clinical histories regarding the clinical picture, anticholinesterase test, repetitive stimulation test (RST), simple fibre test (SFT), computerized axial tomography (CAT) of the mediastinum and the treatment given in each case. RESULTS: Juvenile myasthenia gravis (JMG) presented in 91% of the patients studied. The average age of onset of JMG was 7.45 years, with no difference in presentation in the two sexes. The extrinsic muscles of the eye were most affected and the form with generalized clinical involvement predominated at the time of admission. The RST was positive in four of the nine patients in whom it was done (44%) and the SFT was positive in the six cases in which it was done. No changes were found in the mediastinum on CAT scanning. Mestinon and prednisone were the most commonly used drugs. CONCLUSION: In our group JMG was the most frequent form seen. Neurophysiological studies were very useful diagnostic tools.

Miastenia grave en la infancia. Presentación de 12 casos / Myasthenia gravis in infancy. A report of 12 cases

Introducción. La miastenia grave (MG) presenta particularidades clínicas en los niños. El conocimiento de éstas, además de la utilización de métodos diagnósticos en la infancia y la niñez, es de suma importancia para su identificación. Objetivos. Analizar el comportamiento clínico de la enfermedad y la utilidad de estudios complementarios para el diagnóstico en pacientes pediátricos. Pacientes y métodos. Estudiamos un grupo de 12 niños con diagnóstico de MG, ingresados en el Instituto de Neurología y Neurocirugía de Ciudad de La Habana (Cuba), entre marzo de 1997 y junio del 2001. Se recopilaron datos de las historias clínicas relacionados con: cuadro clínico, prueba con anticolinesterásicos, test de estimulación repetitiva (TER), test de fibra única (TFU), tomografía axial computarizada (TAC) de mediastino y tratamiento usado en cada caso. Resultados. La miastenia grave juvenil (MGJ) se presentó en el 91 por ciento de los pacientes estudiados. La edad promedio de inicio para la MGJ fue de 7,45 años, sin diferencia en su presentación en relación con el sexo. La musculatura extraocular resultó la más afectada y predominó la forma clínica generalizada en el momento del ingreso. El TER fue positivo en cuatro de los nueve pacientes en que se realizó (44 por ciento) y el TFU fue positivo en los seis casos realizados. No se comprobaron alteraciones en la TAC de mediastino. El mestinón y la prednisona fueron los medicamentos más usados. Conclusión. En nuestro grupo, la MGJ resultó la forma más frecuente, y los estudios neurofisiológicos constituyeron instrumentos diagnósticos de gran utilidad (AU)

[Progressive myoclonic epilepsy: clinical characteristics of 18 patients]. / Epilepsia mioclónica progresiva: caracterización clínica de 18 pacientes.

INTRODUCTION: The term progressive myoclonic epilepsy (PME) includes a groups of heterogeneous conditions, with genetic causes, characterized by having different types of seizures, basically myoclonic, and other neurological findings due to a progressive lesion of the central nervous system. OBJECTIVE: To demonstrate the aetiology and clinico-encephalographic changes seen in patients with PME. PATIENTS AND METHODS: A retrospective, descriptive study was done of patients attended for PME in the Instituto de Neurología y Neurocirugía de Cuba between 1990 and 1995. Eighteen patients were included. All were interviewed and had a physical examination, EEG and the specific complementary tests for each aetiology. RESULTS: There was a predominance of neural ceroid lipofuschinosis in 10 patients (55.5%), and in 9 of these the illness started before the age of 9 years. The second most frequent condition was myoclonic epilepsy with red-torn fibres (16.6%) and Unverricht-Lundborg disease (16.6%). The latter began in late childhood or adolescence. The most marked clinical characteristics were epilepsy, which was difficult to control and intellectual deterioration in 100%, followed by cerebellar signs in 88.8%. Myoclonias were the commonest type of seizures (94.4%) and many children presented with prior tonic-clonic seizures (88.8%). CONCLUSION: Response to treatment was poor but the best results were obtained using valproate either alone or associated with benzodiazepines.