ABSTRACT
La hemiplejía alternante de la infancia es un síndrome raro con manifestaciones tempranas. Su incidencia ha sido estimada en 1 de cada 1.000.000 nacimientos. Su patogenia es desconocida. Recientemente, se ha identificado la mutación ATP1A3 en la mayoría de estos pacientes. Por lo general, se suele presentar después de los 18 meses, produciéndose episodios repetidos de hemiplejía prolongada, así como eventos paroxísticos que se repiten, especialmente movimientos oculares, que pueden acompañar o apreciarse aisladamente en relación con la hemiplejía. La forma de presentación clínica consiste en movimientos oculares paroxísticos descubiertos en los 3 primeros meses de vida en más del 80% de los casos. Otro hallazgo es la desaparición de los síntomas con el sueño, que reaparecen sólo 10-20 minutos antes de despertar. Algunos niños manifiestan un retraso del desarrollo, así como alteraciones motoras adicionales, como ataxia, debilidad, distonía o espasticidad. El diagnóstico se establece mediante criterios clínicos. La flunarizina, un fármaco con efectos bloqueantes sobre los canales de calcio, disminuye la duración, la intensidad y/o la frecuencia de crisis en un gran número de pacientes, por lo que se ha convertido en el principal pilar del tratamiento (AU)
Alternating hemiplegia of childhood is a rare syndrome with early manifestations. The incidence has been estimated at 1 in 1,000,000 births. Its pathogenesis remains still unknown. Recently, the ATP1A3 mutation has been identified in the majority of these patients. Generally, it occurs after 18 months, with repeated episodes of prolonged hemiplegia, as well as recurring paroxysmal events, especially eye movements, which may accompany or be seen in isolation in relation to hemiplegia. The clinical presentation consists of paroxysmal ocular movements discovered in the first 3 months of life in more than 80% of cases. Another finding is the disappearance of symptoms with sleep, reappearing only 10-20 minutes before waking. In some children, developmental delays, as well as additional motor disturbances (such as ataxia, weakness, dystonia or spasticity) are described. The diagnosis is established by clinical criteria. Flunarizine, a drug with blocking effects on calcium channels, decreases duration, intensity and/or frequency of seizures in a large number of patients, and has become the main pillar of treatment (AU)
Subject(s)
Humans , Male , Infant , Hemiplegia/diagnosis , Saccades , Nystagmus, Pathologic/etiology , Chorea/etiology , Flunarizine/therapeutic use , Mutation/geneticsABSTRACT
INTRODUCTION: A deficient supply of vitamin B12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy. CASE REPORTS: We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B12, as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal. CONCLUSIONS: Vitamin B12 deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies.
Subject(s)
Amino Acid Metabolism, Inborn Errors , Homocystinuria/etiology , Methylmalonic Acid/urine , Vitamin B 12 Deficiency , Amino Acid Metabolism, Inborn Errors/complications , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/pathology , Amino Acid Metabolism, Inborn Errors/physiopathology , Brain/metabolism , Brain/pathology , Child, Preschool , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/diagnosis , Vitamin B 12 Deficiency/pathology , Vitamin B 12 Deficiency/physiopathologyABSTRACT
Introducción. El déficit de aporte de vitamina B 12 puede manifestarse precozmente en los primeros meses de vida con síntomas hematológicos y neurológicos en forma de encefalopatía progresiva. Casos clínicos. Presentamos dos pacientes con anemia megaloblástica y estancamiento pondoestatural y del perímetro craneal, con afectación neurológica. Ambos presentaban un aumento de la excreción urinaria de ácido metilmalónico, así como de la homocisteína total, con concentración sérica de vitamina B 12 muy disminuida con respecto al rango normal. Los dos recibían lactancia materna exclusivamente. El estudio de las madres reveló una anemia perniciosa asintomática. El tratamiento con hidroxicobalamina dio lugar a la recuperación clínica, con progresiva normalización del desarrollo psicomotor. Conclusión. La deficiencia de vitamina B 12 por defecto de aporte materno debe tenerse en cuenta en el diagnóstico diferencial de las encefalopatías graves potencialmente reversibles
Introduction. A deficient supply of vitamin B 12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy. Case reports. We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B 12 , as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal. Conclusions. Vitamin B 12 deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies