Crisis gelásticas y astrocitoma hipotalámico de bajo grado / Gelastic seizures and low-grade hypothalamic astrocytoma

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[Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin]. / Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular.

INTRODUCTION: Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-alpha) and its later association with ribavirin aroused new expectations. In experimental studies the two drugs were seen to exert a synergic effect in reducing viral replication. Therapeutic studies carried out in patients with SSPE with the two pharmaceuticals have offered contradictory findings. CASE REPORTS: We present the cases of two patients with an early-onset, fast progressing form of SSPE, who were treated with a combined regime of oral isoprenosin, intraventricular IFN-alpha and ribavirin, which was administered intravenously in one case and intraventricularly in the other. At the beginning of treatment the patients' deterioration stabilised briefly and temporarily, but then renewed its progress. CONCLUSIONS: Combined therapy with intraventricular IFN-alpha and ribavirin was not effective in our patients. The late onset and rapidly progressing symptoms of the disease may have had an effect on the poor results obtained.

Panencefalitis esclerosante subaguda: tratamiento combinado con interferon alfa y ribavirina intraventricular / Subacute sclerosing panencephalitis: combined treatment with interferon alpha and intraventricular ribavirin

Introducción. La panencefalitis esclerosante subaguda (PEES) es una enfermedad neurodegenerativa crónica secundaria a una infección del sistema nervioso central por el virus del sarampión, sin un tratamiento efectivo. La introducción del tratamiento con interferón alfa (IFN-a) intraventricular y la asociación posterior de ribavirina despertó nuevas expectativas. En estudios experimentales se comprobó un efecto sinérgico de ambos fármacos en la disminución de la replicación vírica. Los estudios terapéuticos realizados en pacientes afectos de PEES con ambos fármacos han dado resultados discordantes. Casos clínicos. Presentamos dos pacientes afectos de PEES con una forma de inicio precoz y rápidamente progresiva, que se trataron con una pauta combinada de isoprenosina oral, IFN-a intraventricular y ribavirina endovenosa en un caso, e intraventricular, en el otro. Al inicio del tratamiento. los pacientes presentaron una estabilización temporal breve de su deterioro, para después progresar de nuevo. Conclusión. El tratamiento combinado con IFN-a intraventricular y ribavirina no ha sido efectivo en nuestros pacientes. Es posible que su inicio tardío y la forma de presentación rápidamente progresiva de la enfermedad hayan influido en los malos resultados (AU)

Introduction. Subacute sclerosing panencephalitis (SSPE) is a chronic neurodegenerative disease secondary to an infection of the central nervous system by the measles virus, with no effective treatment. The introduction of therapy with intraventricular interferon alpha (IFN-α) and its later association with ribavirin aroused new expectations. In experimental studies the two drugs were seen to exert a synergic effect in reducing viral replication. Therapeutic studies carried out in patients with SSPE with the two pharmaceuticals have offered contradictory findings. Case reports. We present the cases of two patients with an early-onset, fast progressing form of SSPE, who were treated with a combined regime of oral isoprenosin, intraventricular IFN-α and ribavirin, which was administered intravenously in one case and intraventricularly in the other. At the beginning of treatment the patients’ deterioration stabilised briefly and temporarily, but then renewed its progress. Conclusions. Combined therapy with intraventricular IFN-α and ribavirin was not effective in our patients. The late onset and rapidly progressing symptoms of the disease may have had an effect on the poor results obtained (AU)

[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy]. / Síndrome de Walker-Warburg: disgenesia cerebro-ocular y distrofia muscular congénita.

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.

[Acute neurologic dysfunction associated with a hypodensity of the basal ganglia]. / Disfunción neurológica aguda asociada a hipodensidad de los ganglios basales.

A previously healthy five years old boy, following a mild nonspecific upper respiratory infection developed, fever (39 degrees C), vomiting, clouding of consciousness and focal seizures. The CSF showed a mononuclear cell reaction with negative bacterial and viral cultures. A cranial CT scan on the 4th day of admission showed bilateral low density lesions on the basal ganglia region. After 30 days of severe involvement of muscle tone (rigidity) which kept the patient immobilized in bed and without a meaningful communication with his surroundings, improvement was noticed. A repeated CT scan 40 days after admission, was considered normal. Two months after the beginning of disease, patient's physical examination was normal. This case shows striking clinical and radiological similarities to the ones described by Aicardi and Goutieres in 1982 and most likely is explained by bilateral basal ganglia edema complicating viral encephalitis. Mumps virus, being so far, the most commonly implicated.