[Hemiparetic cerebral palsy and startle epilepsy]. / Parálisis cerebral hemiparética y epilepsia del sobresalto.

OBJECTIVES: We analyzed electroclinical features and evolution in nine patients with hemiparetic cerebral palsy associated with SE. PATIENTS AND METHODS: Nine patients with mean age 12.3 years and a follow up from 1 to 11 years were studied, analyzing etiology, neurological examination, psychometric evaluation, age at onset and semiology of epileptic seizures, EEGs and neuro-radiological findings, response to treatment and evolution. RESULTS: Etiologies were: porencephaly in 4 cases, hypoxic-ischemic encephalopathy in 2, bacterial meningitis in 1, herpetic encephalitis in 1 and meningo-encephalitis in the last. All cases had mental retardation. Mean age at onset of epileptic seizures was 4 years. Mean age at onset of startle seizures was 6. The startle seizures were characterized by sudden tonic contractions of the paretic hemibody, provoked by auditory stimulus in 6, somatosensory in 2 and both types of stimulus in 1. Falls were observed in 6 patients. Seizures were daily and always when awake. Unprovoked focal seizures with or without secondary generalization were found in 8 cases, and in 6 they presented previously to the startle seizures. Interictal EEGs showed unilateral spikes in 3, bilateral spikes in 3 and generalized polyspike-wave paroxysms in the other three cases. Ictal EEGs were obtained in 8 of the 9 patients and showed diffuse paroxysms of rhythms 6-11 Hz. Cerebral CT scan and/or MRI revealed extensive unilateral encephalomalacia in 5 and porencephaly in 4. The different antiepileptic schedules were unsuccessful in all cases. Surgery was performed in two patients. They are free of seizures after 1 to 4 years of follow up. CONCLUSION: SE should be considered as a distinctive epileptic syndrome or a particular electro-clinical evolution in patients with a large unilateral brain lesion associated with provoked reflex seizures usually refractory to antiepileptic drugs. Epileptic surgery should be considered.

Parálisis cerebral hemiparética y epilepsia del sobresalto / Hemiparetic cerebral palsy and startle epilepsy

Objetivo. Describir las características clinicoelectroencefalográficas, terapéuticas y evolutivas de nueve pacientes con parálisis cerebral (PC) hemiparética y epilepsia del sobresalto. Pacientes y métodos. Se evaluaron las historias clínicas de seis hombres y tres mujeres con una edad media de 12,3 años y un seguimiento de 1-11 años. Se analizaron los siguientes parámetros: etiología, examen neurológico, evaluación psicométrica, edad de comienzo y semiología de las crisis epilépticas, electroencefalogramas intercríticos y críticos, hallazgos neurorradiológicos, respuesta al tratamiento y evolución. Resultados. Las etiologías fueron: porencefalia en cuatro casos, encefalopatía hipoxicoisquémica en dos, meningitis bacteriana en uno, encefalitis herpética en uno y meningoencefalitis en el restante. Todos los casos presentaron retraso mental. La mediana del inicio de las convulsiones espontáneas fue de 4 años, y la de comienzo de las crisis de sobresalto, de 6 años. Las crisis epilépticas se caracterizaron por contracciones tónicas rápidas, que afectaban al cuerpo hemiparético, desencadenadas por estímulos auditivos en seis, somatosensitivos en dos y ambos tipos de estímulos en uno. En seis de los pacientes, este tipo de crisis les provocaba caídas frecuentes. Las crisis fueron siempre en vigilia y diarias. Se presentaron crisis epilépticas focales espontáneas, con o sin generalización secundaria, en ocho pacientes, en seis de los cuales se presentaron antes de las crisis sensibles al estímulo. Los EEG intercríticos mostraron espigas unilaterales en tres, espigas bilaterales en otros tres y paroxismos generalizados de polipunta-onda lenta en los tres restantes. Los EEG críticos obtenidos en ocho de los nueve pacientes mostraron paroxismos difusos de ritmos a 6-11 Hz. Los hallazgos de neuroimágenes (TAC o RM de cerebro) mostraron encefalomalacia unilateral en cuatro y por encefalia en cinco. Las crisis epilépticas reflejas fueron refractarias a los fármacos antiepilépticos (FAE). Dos de los pacientes se intervinieron quirúrgicamente, en un caso se realizó una hemisferectomía funcional y en el otro una lesionectomía amplia, acompañada de una transección subpial en el área motora. Ambos pacientes están libres de crisis después de uno a cuatro años. Conclusión. Se debería considerar como un síndrome epiléptico definido o una particular evolución electroclínica en aquellos pacientes con lesiones cerebrales extensas asociadas con crisis de sobresalto sensibles a estímulos y refractarias al tratamiento con FAE. La cirugía de la epilepsia debe considerarse una alternativa terapéutica (AU)

Objectives. We analyzed electroclinical features and evolution in nine patients with hemiparetic cerebral palsy associated with SE. Patients and methods. Nine patients with mean age 12.3 years and a follow up from 1 to 11 years were studied, analyzing etiology, neurological examination, psychometric evaluation, age at onset and semiology of epileptic seizures, EEGs and neuro-radiological findings, response to treatment and evolution. Results. Etiologies were: porencephaly in 4 cases, hipoxicischemic encephalopathy in 2, bacterial meningitis in 1, herpetic encephalitis in 1 and meningo-encephalitis in the last. All cases had mental retardation. Mean age at onset of epileptic seizures was 4 years. Mean age at onset of startle seizures was 6. The startle seizures were characterized by sudden tonic contractions of the paretic hemibody, provoked by auditory stimulus in 6, somatosensory in 2 and both types of stimulus in 1. Falls were observed in 6 patients. Seizures were daily and always when awake. Unprovoked focal seizures with or without secondary generalization were found in 8 cases, and in 6 they presented previously to the startle seizures. Interictal EEGs showed unilateral spikes in 3, bilateral spikes in 3 and generalized polyspike-wave paroxysms in the other three cases. Ictal EEGs were obtained in 8 of the 9 patients and showed diffuse paroxysms of rhythms 6-11 Hz. Cerebral CT scan and/or MRI revealed extensive unilateral encephalomalacia in 5 and porencephaly in 4. The different antiepileptic schedules were unsuccessful in all cases. Surgery was performed in two patients. They are free of seizures after 1 to 4 years of follow up. Conclusion. SE should be considered as a distinctive epileptic syndrome or a particular electro-clinical evolution in patients with a large unilateral brain lesion associated with provoked reflex seizures usually refractory to antiepileptic drugs. Epileptic surgery should be considered (AU)

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. Awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. Diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.

[Acute myelitis of an unusual cause in a child: the lymphocytic choriomeningitis virus]. / Les myélites aiguës de l'enfant, à propos d'une cause rare: le virus de la chorioméningite lymphocytaire.

UNLABELLED: Acute transverse myelitis is a rare disorder in childhood. It usually occurs as a post-infectious disease, but a precise infectious agent is identified in only 20% of cases. OBSERVATION: The diagnosis of acute transverse myelitis was made in a 5.5-year-old girl who initially presented with left Claude-Bernard-Horner syndrome and meningitis. A few days later, motor and sensory tetraparesia with bladder dysfunction was observed. Magnetic resonance imaging showed a diffuse lesion in the medulla, with a hypersignal in the T2 and a hyposignal in the T1 sequences. Serum analysis showed the presence of a viral infection due to the lymphocytic choriomeningitis (LCM) virus. The outcome was marked by complete recovery of the sensorimotor deficit, but a persistence of the left Claude-Bernard-Horner syndrome. CONCLUSION: In rare cases, the LCM virus is responsible for myelitis. In the present case, the Claude-Bernard-Horner syndrome was secondary to the cervico-medullary lesion. Recent reports in the literature have been discussed, in particular as regards the use of immunomodulatory therapy, which clearly improves patient prognosis.