flunarizine and Developmental-Disabilities

Alternating hemiplegia of childhood (AHC) is a rare disease characterised by repeated episodes of hemiplegia that alternately affect one side of the body. Onset is usually before the age of 18 months, the episodes last anywhere from a few minutes to several days. In some cases these episodes may even render the early infant quadriplegic for some time if one begins before the previous one has finished or if they occur at the same time. The clinical description includes, in addition to these paralysing attacks, other paroxysmal manifestations that are present in practically all the children diagnosed with this condition and which, moreover, appear earlier. Such manifestations consist in tonic attacks, dystonic attacks, abnormal eye movements and autonomic disorders. The fact that these symptoms precede the typical clinical signs and symptoms often leads to delays in the final diagnosis.. We report the case of a male, aged one year and nine months, who initially presented a clinical picture of tonic seizures at the age of two weeks, which then went on to episodes of hemiplegia that appeared alternately at the age of 11 months. The patient also presented retarded overall psychomotor development. In the early stages of the symptoms he was diagnosed with epilepsy, failed to respond to multiple antiepileptic drugs, and the electroencephalogram, neuroimaging and complementary blood and urine tests were all normal/negative. The patient responded well to flunarizine.. This is the first patient with AHC reported in El Salvador. The early and accurate diagnosis of AHC is essential to be able to establish drug therapy and improve the prognosis and the quality of life of patients and their families.. Hemiplejia alternante de la infancia. Primer caso clinico descrito en El Salvador.. Introduccion. La hemiplejia alternante de la infancia (HAI) es una enfermedad rara, caracterizada por episodios repetidos de hemiplejia que afectan alternativamente a un hemicuerpo, son de inicio preferente antes de los 18 meses, duran de minutos a varios dias, e incluso pueden dejar tetraplejico durante un tiempo al lactante, si antes de que se acabe un episodio comienza otro o si estos ocurren de manera simultanea. La descripcion clinica incluye, ademas de estos ataques plejicos, otras manifestaciones paroxisticas presentes practicamente en todos los niños diagnosticados de este trastorno y que son, ademas, de aparicion mas precoz. Consisten en ataques tonicos, ataques distonicos, movimientos oculares anormales y trastornos autonomicos. El hecho de que estos sintomas precedan a la clinica tipica provoca en bastantes ocasiones un retraso en el diagnostico definitivo. Caso clinico. Varon de un año y nueve meses que inicia clinica de crisis tonicas a las dos semanas de vida, posteriormente episodios de hemiplejia que se manifiestan de forma alternante a los 11 meses de vida, y ademas presenta retraso psicomotor global. Al principio de los sintomas se diagnostico epilepsia, no respondio a multiples farmacos antiepilepticos, y el electroencefalograma, la neuroimagen y las pruebas complementarias en sangre y orina fueron normales/negativos. Presento respuesta favorable a la flunaricina. Conclusion. Es el primer paciente descrito de HAI en El Salvador. El diagnostico precoz y acertado de HAI es fundamental para iniciar farmacoterapia y mejorar el pronostico y calidad de vida de los pacientes y sus familias.

Topics: Anticonvulsants; Brain; Delayed Diagnosis; Developmental Disabilities; Diagnosis, Differential; Diagnostic Errors; El Salvador; Electroencephalography; Epilepsy; Flunarizine; Hemiplegia; Humans; Infant; Intellectual Disability; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male

We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.

Topics: Adolescent; Adult; Anticonvulsants; Child; Child, Preschool; Developmental Disabilities; Female; Flunarizine; Hemiplegia; Humans; Infant; Male; Periodicity; Retrospective Studies; Treatment Outcome