Trombosis de Senos Venosos, experiencia en un hospital pediátrico en Buenos Aires, Argentina / Venous sinus thrombosis: Experience at a pediatric hospital in Buenos Aires, Argentina

Introducción: La trombosis de senos venosos cerebrales (TSVC) es infrecuente en pediatría. Está asociada a condiciones como infecciones, deshidratación, fallo renal, traumatismo de cráneo, neoplasias, trastornos hematológicos, etc. Cefalea, vómitos, alteración del sensorio y hemiparesia son los síntomas más frecuentes. El diagnóstico es confirmado por TC con angio y/o RM con angio. La anticoagulación es el tratamiento de elección. Los pacientes suelen evolucionar favorablemente. Materiales y Métodos: Estudio descriptivo observacional de pacientes con TSVC atendidos en el Hospital Garrahan desde 2010 a 2017. Las variables registradas fueron: edad, sexo; manifestaciones clínicas, factores de riesgo; estudios diagnósticos, tratamiento y evolución. Resultados: Se describen 34 pacientes con TSVC. Los adolescentes fueron el grupo mayor. La cefalea fue el síntoma más frecuente. Angio TC, RM y/o angio RM confirmaron el diagnóstico; los senos transverso, sagital superior y sigmoideo fueron los más comprometidos. 21 pacientes tenían patología oncológica y 14 procesos infecciosos. El tratamiento de elección fue la anticoagulación. Tuvieron buena evolución el 82%. Conclusiones: Debemos sospechar esta entidad en dos grupos: el primero formado por lactantes y pre-escolares con patología infecciosa; y un segundo integrado por escolares y adolescentes con patología oncológica, especialmente aquellos que reciben L-ASA.Es importante resaltar el valor de la TC y angio TC para hacer diagnóstico oportuno, resultando accesible las 24 horas en el hospital

Introduction: Cerebral venous sinus thrombosis (CVST) is uncommon in children. CVST is associated with conditions, such as infections, dehydration, renal failure, head trauma, cancer, and hematological disorders. Headache, vomiting, sensory alterations, and hemiparesis are the most common symptoms. Diagnosis is confirmed by angio CT and/or MRA. Anticoagulation is the treatment of choice. Outcome is generally good. Material and Methods: An observational, descriptive study of patients with CVST seen at Garrahan Hospital between 2010 and 2017. The following variables were recorded: age, sex; clinical manifestations, risk factors; diagnostic studies, treatment, and outcome. Results: 34 patients with CVST were studied. Most patients were adolescents. Headache was the most common symptom. Angio CT, MRI, and/or MRA confirmed the diagnosis; the transverse, superior sagittal, and sigmoid sinuses were most frequently affected. Of the patients, 21 had oncological disease and 14 infections. Anticoagulation was the treatment of choice. Outcome was good in 82%. Conclusions: CVST should be suspected in the following two groups: A first group consisting of infants and preschool children with infections and a second group of school-age children and adolescents with cancer, especially those receiving L-ASA. It is important to highlight the role of CT and angio CT for early diagnosis as the study is available day and night at the hospital.

[Pyridoxine dependence: the importance of the clinical diagnosis and early treatment]. / Dependencia de piridoxina: valor del diagnóstico clínico y del tratamiento precoz.

OBJECTIVE: We described the electroclinical features, evolution and family history of two patients with definitive diagnosis of pyridoxine dependency. CASE REPORTS: The first patient is a 15-month-old girl who at 1 month of age started with seizures and irritability. At two months of age, pyridoxine was prescribed with a good control of seizures. At five months of age withdrawal response provoked 7 days after seizures recurrence. Pyridoxine was reintroduced and seizures disappeared. Her sister, at two months of age, started with refractory seizures. This sister also had mental retardation and at four years, she died. Her brother, 16 years old, presents mental retardation, refractory epilepsy and progressive motor and cognitive impairment. At 3 months of age, he started with seizures and at 15 years of age, pyridoxine was prescribed with a significative improvement the number of seizures and a better visual connection. The second patient is a 4-month-old girl who started with clonic seizures at 3 days of age and she had a good response to pyridoxine. Withdrawal response provoked seizure recurrence at 48 hours. Pyridoxine was introduced immediately with total control of seizures. She had two cousins with seizures who died at 3 months and 3 years of age respectively. CONCLUSION: When dealing with an infant with refractory seizures which start in the first two years of life and without etiology, we should consider the diagnosis of pyridoxine dependency. Early diagnosis and treatment with pyridoxine is crucial to avoid high risk morbidity and mortality. All infants in the two first years of life with refractory seizures without etiology must be prescribed oral pyridoxine (50-200 mg per day).

Dependencia de piridoxina: valor del diagnóstico clínico y del tratamiento precoz / Pyridoxine dependence: the importance of the clinical diagnosis and early treatment

Objective. We described the electroclinical features, evolution and family history of two patients with definitive diagnosis of pyridoxine dependency. Case reports. The first patient is a 15-month-old girl who at 1 month of age started with seizures and irritability. At two months of age, pyridoxine was prescribed with a good control of seizures. At five months of age withdrawal response provoked 7 days after seizures recurrence. Pyridoxine was reintroduced and seizures disappeared. Her sister, at two months of age, started with refractory seizures. This sister also had mental retardation and at four years, she died. Her brother, 16 years old, presents mental retardation, refractory epilepsy and progressive motor and cognitive impairment. At 3 months of age, he started with seizures and at 15 years of age, pyridoxine was prescribed with a significative improvement the number of seizures and a better visual connection. The second patient is a 4-month-old girl who started with clonic seizures at 3 days of age and she had a good response to pyridoxine. Withdrawal response provoked seizure recurrence at 48 hours. Pyridoxine was introduced immediately with total control of seizures. She had two cousins with seizures who died at 3 months and 3 years of age respectively. Conclusion. When dealing with an infant with refractory seizures which start in the first two years of life and without etiology, we should consider the diagnosis of piridoxine dependency. Early diagnosis and treatment with piridoxine is crucial to avoid high risk morbility and mortality. All infants in the two first years of life with refractory seizures without etiology must be prescribed oral pyridoxine (AU)

Objetivo. Describimos las características clínicas, electroencefalográficas y evolutivas y los antecedentes familiares de dos pacientes con diagnóstico definitivo de dependencia de piridoxina (DP). Casos clínicos. El primer paciente, de sexo femenino, de 15 meses de edad, inició con convulsiones e irritabilidad al mes de vida. A los dos meses de vida inicia el tratamiento con vitamina B6, y logra un control total de las crisis. A los cinco meses de edad se realizó la prueba de suspensión de la vitamina B6 y reinició las convulsiones a los siete días, por lo que se reintrodujo la misma. Su hermana, con convulsiones refractarias al tratamiento desde los dos meses de edad y retardo mental, falleció a los 4 años. Su hermano vivo, de 16 años de edad, presentó epilepsia intratable desde los tres meses de vida y deterioro progresivo motor e intelectual. A los 15 años de edad se le indicó vitamina B6, con una disminución significativa del número de crisis y una mejoría de su grado de conexión visual. El segundo paciente, mujer de cuatro meses de edad e hija única, comenzó con clonías generalizadas desde los tres días de vida, con una excelente respuesta a la piridoxina; se reiniciaron las mismas a las 48 h de suspendida, y desaparecieron una vez reintroducida la vitamina B6. Tuvo dos primos hermanos con convulsiones, fallecidos a los tres meses y tres años, respectivamente. Conclusión. El diagnóstico de DP debe considerarse en un lactante con convulsiones refractarias de inicio en los dos primeros años de vida y sin etiología reconocida. El diagnóstico precoz y el tratamiento con vitamina B6 es crucial para evitar los altos riesgos de morbilidad y mortalidad. Por lo tanto, en todo lactante menor de dos años con convulsiones refractarias, sin etiología determinada, debemos indicar piridoxina por vía oral (50200 mg/día) (AU)