Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging]. / Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.

INTRODUCTION: Panayiotopoulos syndrome (PS) is a common form of epilepsy in childhood that is classified as one of the benign idiopathic focal epilepsies. There is no consensus on the indication of neuroimaging in the presence of an electroclinical picture consistent with this disorder. Two cases are presented that began with an electroclinical pattern compatible with PS and in which alterations in the occipital structure were finally detected. CASE REPORTS: Two girls aged 5 and 6 years who began with episodes consistent with PS. In both cases neuroimaging showed structural lesions (cortical dysplasia and pleomorphic xanthoastrocytoma), and hence the final diagnosis was occipital symptomatic focal epilepsy, with the ensuing change in the prognosis and treatment. CONCLUSIONS: The literature describes abnormalities in cranial magnetic resonance imaging in 10-20% of diagnosed cases of PS in which a scan is performed, although the diagnosis of PS is not always changed (matching lesions). Both cases exemplify the importance of reaching a correct diagnosis through a detailed study that must include neuroimaging, since, in some patients, causal brain injuries will be detected and as a result the diagnosis, treatment and evolution will be significantly different.

TITLE: Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.Introducción. El síndrome de Panayiotopoulos (SP) es una epilepsia frecuente en la infancia que se clasifica dentro de las epilepsias focales idiopáticas benignas. No existe consenso sobre la indicación de neuroimagen ante un cuadro electroclínico compatible con este trastorno. Se presentan dos casos que comenzaron con un patrón electroclínico compatible con SP y en los que finalmente se detectaron alteraciones estructurales occipitales. Casos clínicos. Dos niñas de 5 y 6 años que comenzaron con episodios compatibles electroclínicamente con SP. En ambos casos, la neuroimagen mostró lesiones estructurales (displasia cortical y xantoastrocitoma pleomórfico), por lo que finalmente el diagnóstico fue de epilepsia focal sintomática occipital, con el consiguiente cambio en el pronóstico y el tratamiento. Conclusiones. En la bibliografía se describen anomalías en la resonancia magnética craneal en un 10-20% de los casos diagnosticados de SP en los que se realiza una prueba de imagen, aunque no siempre se modifica el diagnóstico de SP (lesiones coincidentes). Ambos casos ejemplifican la importancia de alcanzar un diagnóstico correcto mediante un estudio detallado que ha de incluir la realización de neuroimagen, ya que, en algunos pacientes, se detectarán lesiones cerebrales causales, por lo que el diagnóstico, el tratamiento y la evolución serán drásticamente distintos.

[Kleine-Levin syndrome: differential diagnosis in recurrent encephalitic syndromes in adolescence]. / Sindrome de Kleine-Levin: diagnostico diferencial en los sindromes encefaliticos recurrentes del adolescente.

INTRODUCTION: The Kleine-Levin syndrome is a rare disease of unknown origin characterized by recurrent and self-limited episodes of hypersomnia that are also accompanied by a cognitive and behavioral dysfunction. Patients present normal sleeping and behavior patterns between episodes. CASE REPORTS: We present three patients who are 14 years old: two boys and one girl. They started having the episodes after a predisposing factor (vaccine, influenza B and menstruation). During the episode they presented hypersomnolence and while wakefulness they were bradipsychic, in motor restlessness and with emotional liability. They also presented a tendency towards crying and claimed the presence of relatives constantly. The episodes lasted between 10 and 15 days and they appeared monthly, being asymptomatic between episodes. All three patients were attended initially by pediatricians, diagnosed and treated as autoimmune encephalitis. Only one of our cases had the three typical symptoms of hypersomnia, hyperfagia and hypersexuality. However, none of the three had been asked initially and the family only referred to it after the directed anamnesis. CONCLUSIONS: The Kleine-Levin syndrome presents neurologic symptoms initially more frequently than psychiatric ones. Hypersomnia and behavioural disturbances during wakefulness, bradypsychia, apatheia and emotional liability make us suspect that it could be an encephalitis process. We should be aware of this entity if we face a patient with recurrent encephalitis of unknown origin.

TITLE: Sindrome de Kleine-Levin: diagnostico diferencial en los sindromes encefaliticos recurrentes del adolescente.Introduccion. El sindrome de Kleine-Levin es una enfermedad rara de causa desconocida que se caracteriza por episodios recurrentes autolimitados de hipersomnia acompañados de alteracion cognitiva y conductual. Entre los episodios, los pacientes tienen un patron de sueño y cognitivo normal. Casos clinicos. Se presentan tres pacientes de 14 años, dos chicos y una chica. Comenzaron tras un desencadenante (vacuna, una infeccion respiratoria por influenza B; en el caso de la chica, coincidian con la menstruacion). En el episodio agudo mostraban tendencia al sueño y en vigilia destacaba bradipsiquia, inquietud motora y gran labilidad emocional, con tendencia al llanto y necesidad de la presencia de los familiares. Presentaron una duracion aproximada de 10-15 dias y periodicidad mensual, y se mostraron asintomaticos entre los episodios. Los tres pacientes fueron valorados por pediatras, diagnosticados y tratados de encefalitis autoinmune. Solo uno cumplia la triada tipica de hipersomnia, hiperfagia e hipersexualidad, pero ninguno de los tres datos se habia recogido en la historia clinica inicial y la familia solo lo referia tras una anamnesis dirigida. Conclusiones. En el sindrome de Kleine-Levin, los sintomas neurologicos durante el cuadro agudo son aun mas frecuentes que los psiquiatricos. La tendencia al sueño y el hecho de que durante la vigilia no esten asintomaticos y se muestren lentos, apaticos, labiles e irascibles, situa en primer lugar la sospecha de sindrome encefalitico. Debemos tener presente esta entidad en encefalitis recurrentes de etiologia no filiada.

An unusual presentation of paediatric Listeria meningitis with selective spinal grey matter involvement and acute demyelinating polyneuropathy.

BACKGROUND: Paediatric Listeria meningitis is rare, especially in immuno-competent children, but associated with significant mortality and morbidity and frequent complications. METHODS: We report an unusual case of Listeria meningitis in a previously healthy 35 month-old girl with selective spinal grey matter involvement and demyelination in neurophysiological studies. Despite adequate antibiotic treatment, the case was initially complicated by ventriculitis, hydrocephalus and tonsillar herniation through the foramen magnum, requiring external ventricular drainage and subsequent ventriculoperitoneal shunt insertion. Paucity of movements, hypotonia, areflexia and bladder dysfunction then became evident. RESULTS: Electromyogram and nerve conduction studies showed acute inflammatory demyelinating polyneuropathy and the patient received intravenous immunoglobulin followed by corticosteroids. MRI scans with contrast revealed extensive whole cord selective grey matter signal changes. She required extensive neurorehabilitation, making gradual (but incomplete) recovery. CONCLUSION: Spinal cord involvement is rare in neuro-listeriosis and there no previous paediatric reports of Listeria-related myelitis or demyelinating polyneuropathy. The mechanism behind these presentations is unclear but an auto-immune response to the infection might be considered.