Ultra-high dose of intravenous immunoglobulin restores strength and motor function in a patient with refractory multifocal motor neuropathy. / Dosis ultraaltas de inmunoglobulina endovenosa mejoran la fuerza y la funcionalidad motora en una paciente con neuropatía motora multifocal refractaria.

INTRODUCTION: Multifocal motor neuropathy (MMN) is a chronic progressive immune-mediated neuropathy, predominantly involving upper limbs asymmetrically with electrophysiologic evidence of motor conduction block. The treatment of choice is immunoglobulin (Ig). Nevertheless, some patients may become resistant to treatment. We describe a patient with history of MMN who became resistant to gammaglobulin treatment but markedly improved using ultra-high doses of intravenous immunoglobulin. CASE REPORT: A 36-year-old woman with diagnosis of MMN. After 5 years of clinical stability under subcutaneous Ig (2g/kg/month) the patient developed bilateral weakness involving both hands. Treatment was switched to intravenous Ig 2g/kg/month, nevertheless, she progressed and became totally dependent for activities of daily living. We started ultra-high dose intravenous immunoglobulin 5 g/kg/month, with good response. She became independent for activities of daily living and returned to work. The only treatment related adverse event was headache during infusion. CONCLUSION: Ultra-high dose intravenous Ig seems to be a useful therapy in aggressive MMN with severe disability despite conventional treatment. A low cardiovascular risk score (QRISK2 less than 10%) and a daily intravenous Ig lower than 35 g reduce the risk of severe complications related to intravenous Ig.

TITLE: Dosis ultraaltas de inmunoglobulina endovenosa mejoran la fuerza y la funcionalidad motora en una paciente con neuropatía motora multifocal refractaria.Introducción. La neuropatía motora multifocal (NMM) es una enfermedad crónica, progresiva e inmunomediada que afecta predominantemente a los miembros superiores de forma asimétrica. En los estudios electrofisiológicos se evidencian bloqueos en la conducción motora, y el tratamiento de elección es la inmunoglobulina humana (Ig); sin embargo, algunos pacientes pueden desarrollar refractariedad a este tratamiento. Describimos el caso de una paciente con diagnóstico de NMM que desarrolló refractariedad a la gammaglobulina y que mejoró marcadamente con dosis ultraaltas de esta misma medicación. Caso clínico. Mujer de 36 años, con diagnóstico de NMM, que, después de cinco años de estabilidad clínica bajo tratamiento con Ig subcutánea en dosis de 2 g/kg/mes, evolucionó con grave debilidad en ambas manos, por lo que se decidió cambiar el tratamiento a Ig endovenosa. No obstante, progresó hasta quedar incapacitada para realizar actividades básicas de la vida diaria. Iniciamos tratamiento con Ig endovenosa en dosis ultraaltas (5 g/kg/mes) con buena respuesta, logrando independencia funcional en las actividades de la vida diaria y que regresara al trabajo. El único evento adverso relacionado con la Ig endovenosa en dosis ultraaltas fue la presencia de cefalea durante la infusión. Conclusión. La Ig endovenosa en dosis ultraaltas parece ser un tratamiento efectivo para pacientes con NMM y grave discapacidad no respondedores a dosis convencionales. Un bajo índice de riesgo cardiovascular (QRISK2 menor que 10%) y una dosis diaria de Ig endovenosa menor de 35 g reducen el riesgo de complicaciones graves relacionadas con el uso de esta medicación.

Dosis ultraaltas de inmunoglobulina endovenosa mejoran la fuerza y la funcionalidad motora en una paciente con neuropatía motora multifocal refractaria / Ultra-high dose of intravenous immunoglobulin restores strength and motor function in a patient with refractory multifocal motor neuropathy

Introducción: La neuropatía motora multifocal (NMM) es una enfermedad crónica, progresiva e inmunomediada que afecta predominantemente a los miembros superiores de forma asimétrica. En los estudios electrofisiológicos se evidencian bloqueos en la conducción motora, y el tratamiento de elección es la inmunoglobulina humana (Ig); sin embargo, algunos pacientes pueden desarrollar refractariedad a este tratamiento. Describimos el caso de una paciente con diagnóstico de NMM que desarrolló refractariedad a la gammaglobulina y que mejoró marcadamente con dosis ultraaltas de esta misma medicación. Caso clínico: Mujer de 36 años, con diagnóstico de NMM, que, después de cinco años de estabilidad clínica bajo tratamiento con Ig subcutánea en dosis de 2 g/kg/mes, evolucionó con grave debilidad en ambas manos, por lo que se decidió cambiar el tratamiento a Ig endovenosa. No obstante, progresó hasta quedar incapacitada para realizar actividades básicas de la vida diaria. Iniciamos tratamiento con Ig endovenosa en dosis ultraaltas (5 g/kg/mes) con buena respuesta, logrando independencia funcional en las actividades de la vida diaria y que regresara al trabajo. El único evento adverso relacionado con la Ig endovenosa en dosis ultraaltas fue la presencia de cefalea durante la infusión. Conclusión: La Ig endovenosa en dosis ultraaltas parece ser un tratamiento efectivo para pacientes con NMM y grave discapacidad no respondedores a dosis convencionales. Un bajo índice de riesgo cardiovascular (QRISK2 menor que 10%) y una dosis diaria de Ig endovenosa menor de 35 g reducen el riesgo de complicaciones graves relacionadas con el uso de esta medicación.(AU)

Introduction: Multifocal motor neuropathy (MMN) is a chronic progressive immune-mediated neuropathy, predominantly involving upper limbs asymmetrically with electrophysiologic evidence of motor conduction block. The treatment of choice is immunoglobulin (Ig). Nevertheless, some patients may become resistant to treatment. We describe a patient with history of MMN who became resistant to gammaglobulin treatment but markedly improved using ultra-high doses of intravenous immunoglobulin. Case report: A 36-year-old woman with diagnosis of MMN. After 5 years of clinical stability under subcutaneous Ig (2g/kg/month) the patient developed bilateral weakness involving both hands. Treatment was switched to intravenous Ig 2g/kg/month, nevertheless, she progressed and became totally dependent for activities of daily living. We started ultra-high dose intravenous immunoglobulin 5 g/kg/month, with good response. She became independent for activities of daily living and returned to work. The only treatment related adverse event was headache during infusion. Conclusion: Ultra-high dose intravenous Ig seems to be a useful therapy in aggressive MMN with severe disability despite conventional treatment. A low cardiovascular risk score (QRISK2 less than 10%) and a daily intravenous Ig lower than 35 g reduce the risk of severe complications related to intravenous Ig.(AU)

Brain MRI findings in children and adolescents with Fabry disease.

OBJECTIVE: To evaluate the presence of white matter and hemorrhagic lesions in brain MRI of children and adolescents with Fabry disease (FD). METHODS: Brain MRI studies in 44 consecutive children and teenagers (20 boys, mean age 14.6 years, range 7-21 years) were evaluated using classic sequences as well as, GRE-weighted images, for white matter lesions (WML) and chronic microbleed detection. All patients lacked history of stroke or TIA. Brain MRI findings in 46 consecutive children and adolescents without FD, referred for the evaluation of headaches (36 females, mean age 14.1 years, range 7-21 years) were evaluated as a control group. Additionally, we assessed the clinical manifestations of FD. RESULTS: Seven children (15.9%) with FD had brain MRI evidence of asymptomatic WML (5 girls, mean age 14.8 years, range: 13-20 years) compared with 3 children (6.5%) in the control group (p = 0.01). Brain abnormalities in patients with FD revealed WML, deep gray matter and infratentorial involvement. Three patients presented two lesions each. None of the children showed microbleeds. Regarding clinical manifestations, 90.9% of the patients had signs or symptoms of FD. CONCLUSION: We identified asymptomatic white matter brain lesions in 15.9% of children with FD without clinical history of stroke. FD is a treatable disorder that should be routinely included in the differential diagnosis of both symptomatic and asymptomatic brain lesions in children and adolescents. The detection of brain lesions may foster earlier treatment.

[Mega-poly-calicosis. Apropos of a case with prenatal and postnatal diagnosis]. / Mégapolycalicose. A propos d'un cas avec diagnostic anté-natal et postnatal.

We report the first published case of megapolycalicosis with prenatal ultrasound diagnosis. Pyeloureteral junction dysplasia was observed only after delivery. The etiopathogenesis of megapolycalicosis (MPC) and its hypothetical association with uretero-pelvic junction obstruction are discussed. Presence of polycalicosis, good glomerular filtration and absence of compensatory controlateral renal hypertrophy are determinant in the diagnosis.

[Anomalies of phospho-calcium metabolism during antiepileptic treatment]. / Anomalie del metabolismo fosfo-calcico nel corso di trattamento antiepilettico.

It is known that, particularly in Nordic States, many patients undergoing antiepileptic therapy with Phenobarbital and Phentoin present disorders of the phospho-calcium metabolism, both clinical and biochemical. For what concerns the mediterranean area, few are the papers written concerning this subject in these last years. In this paper we attempt to provide a "case study" contribution (100 cases) to enable us to study the above-mentioned alteration focusing on an area half way between Central and Southern Europe. The Authors discuss the possible mechanism implicated in this affection.

Importance of microcirculatory alterations in the initial hypertensive, oligoanuric phase of acute post-infective glomerulonephritis in infancy.

By applying the blood gas analysis to the venous blood of 17 children affected by DPGN, the authors have observed an increase of the PvO2 and a reduction of the PvCO2 in the oligoanuric and hypertensive phase, which is attributed to a minor utilization of O2. The authors relate a probable cellular respiratory defect with the initial skin tumefaction in these cases. This respiratory dysfunction would be due to intravascular red cell aggregation, to the reduction of perfusion of the exchange vessels and to the passage of the blood through preferential circuits.