Rotavirus y crisis convulsivas. Una asociación poco frecuente aunque bien definida / Rotavirus and seizures. A well-defined uncommon association

Introducción: La infección por rotavirus, además de los síntomas digestivos, puede producir múltiples complicaciones neurológicas. Entre estas se encuentran las convulsiones afebriles asociadas a gastroenteritis leve (CBG). A pesar de tener unas características bien definidas, su incidencia es poco conocida. Métodos: Se seleccionaron los diagnósticos de diarrea aguda de los niños que fueron hospitalizados en el Hospital Donostia, entre julio-1996 y junio-2008 y con edades entre un mes y 5 años. Se seleccionaron aquellos casos con diagnóstico asociado de convulsión. Resultados: Se detectó rotavirus en 419 de los 1.114 niños hospitalizados por GEA (39,2%). Cinco (1,2%) presentaron un cuadro compatible con CBG. Los episodios sucedieron entre diciembre y enero en todos los casos. La edad media de presentación fue 19,6 meses. El número de crisis por paciente fue de 2,6 de media (rango 1–4). Todas las crisis fueron cortas, siendo la de mayor duración de 15min. La duración total del cuadro fue de 1,6 días de media, con un máximo de 3 días. Las pruebas complementarias realizadas en todos los casos, fueron normales. En el seguimiento posterior, uno de los niños a los 26 meses presentó de nuevo un cuadro compatible con esta entidad. Ninguno ha vuelto a presentar crisis y todos tienen un desarrollo psicomotor normal. Conclusiones: La entidad CBG, es una entidad poco frecuente dentro de las gastroenteritis agudas asociadas a rotavirus, pero tiene unas características clínicas muy precisas que permiten su identificación, pudiendo evitar excesivas pruebas complementarias y tratamientos médicos agresivos (AU)

Introduction: Rotavirus infection, besides gastrointestinal symptoms, may cause several neurological complications. Among these, are benign convulsions with mild gastroenteritis (CwG). Despite having well defined clinical features, its incidence is not well known. Methods: We selected discharge diagnoses of acute diarrhea in children aged 1 month to 5 years who were admitted to Donostia Hospital between July 1996 and June 2008. Among them, we selected those cases with concomitant diagnosis of seizure. Results: Rotavirus was detected in 419 of 1114 children hospitalized for gastroenteritis. (39.2%), Five (1.2%) had symptoms compatible with CwG. The episodes occurred between December and January in all cases. The mean age at diagnosis was 19.6 months. The number of seizures per patient was 2.6 (range 1–4). All the crises were short, the longest being 15min. The total duration of the episode was 1.6 days on average, with up to 3 days. Additional tests performed in all cases, were normal. In subsequent follow-up, one child at 26 months had another episode compatible with this entity at 26 months. During the follow-up period, all patients displayed normal psychomotor development with noe recurrence of seizures. Conclusion: CwG is a rare entity within all acute gastroenteritis associated with rotavirus, but has very specific clinical features that enable it to be identified which could avoid excessive medical tests, and aggressive treatment (AU)

[Rotavirus and seizures. A well-defined uncommon association]. / Rotavirus y crisis convulsivas. Una asociación poco frecuente aunque bien definida.

INTRODUCTION: Rotavirus infection, besides gastrointestinal symptoms, may cause several neurological complications. Among these, are benign convulsions with mild gastroenteritis (CwG). Despite having well defined clinical features, its incidence is not well known. METHODS: We selected discharge diagnoses of acute diarrhea in children aged 1 month to 5 years who were admitted to Donostia Hospital between July 1996 and June 2008. Among them, we selected those cases with concomitant diagnosis of seizure. RESULTS: Rotavirus was detected in 419 of 1114 children hospitalized for gastroenteritis. (39.2%), Five (1.2%) had symptoms compatible with CwG. The episodes occurred between December and January in all cases. The mean age at diagnosis was 19.6 months. The number of seizures per patient was 2.6 (range 1-4). All the crises were short, the longest being 15min. The total duration of the episode was 1.6 days on average, with up to 3 days. Additional tests performed in all cases, were normal. In subsequent follow-up, one child at 26 months had another episode compatible with this entity at 26 months. During the follow-up period, all patients displayed normal psychomotor development with noe recurrence of seizures. CONCLUSION: CwG is a rare entity within all acute gastroenteritis associated with rotavirus, but has very specific clinical features that enable it to be identified which could avoid excessive medical tests, and aggressive treatment.

Estudios por imagen en la primera infección urinaria con fiebre del lactante. ¿Es necesaria la cistografía miccional? / Imaging studies in the first urinary infection with fever in infants: is voiding cystourethrography necessary?

Introducción: En el lactante con infección del tracto urinario (ITU), no es necesaria la presencia de reflujo vesicoureteral (RVU) para que se produzca una lesión renal adquirida. Sólo los reflujos graves pueden ser un factor que favorezca su aparición. Objetivos: Valorar si en los lactantes diagnosticados por primera vez de una ITU con fiebre, una gammagrafía renal con ácido dimercaptosuccínico (DMSA) inicial normal puede ser utilizado como método de cribado para detectar los reflujos graves y sustituir a la cistouretrografía miccional seriada(CUMS). Pacientes y métodos: Hemos estudiado retrospectivamente 162 lactantes menores de 2 años controlados en nuestro hospital por haber presentado la primera manifestación de una ITU con fiebre (92 varones y 70 mujeres). En todos los casos se habían practicado, a los pocos días del diagnóstico, una ecografía renal, una DMSA y una CUMS. Resultados: De los 162 pacientes, 62 (38 %) tenían RVU, de los cuales56 (90 %) eran leves y seis (10 %), graves. El DMSA era anormal en 26 de 100 pacientes sin RVU (26 %), en 12 de56 con RVU leve (21 %) y en 6 de 6 casos de los que tenían RVU grave (100 %). La sensibilidad del DMSA para detectarlos reflujos graves era del 100 % y la especificidad del 76%.El valor predictivo positivo y el valor predictivo negativo eran del 14 y el 100 %, respectivamente. El cociente de probabilidad positivo era de 4,17 y el cociente de probabilidad negativo de 0. Conclusiones: En el lactante con una primera manifestación de una ITU, una DMSA inicial negativa hace innecesaria la realización de la CUMS (AU)

Introduction: The presence of vesicoureteral reflux (VUR) in an infant with urinary tract infection (UTI), does not necessarily lead to an acquired renal injury. Only serious reflux can be a factor in fostering its appearance. Objectives: To assess whether in infants diagnosed for the first time with a UTI with a fever, a routine initial DMSA can be used as a screening method for detecting severe reflux and replace voiding cystourethrography (VCUG). Patients and methods: We retrospectively studied 162 infants under 2 years old admitted to our hospital due to having a ITU with fever for the first time (92 males and 70 females). In all cases, arenal ultrasound, DMSA and VCUG had been performed a few days after the diagnosis. Results: Of the 162 patients, 62 (38 %) had VUR, of which 56(90 %) were mild and 6 (10 %) were severe. The DMSA was abnormal in 26/100 patients without VUR (26 %), 12/56 with mild VUR (21 %) and 6/6 of those with severe VUR (100 %). DMSA sensitivity for detecting severe reflux was 100 % and specificity was 76 %. The positive predictive value and negative predictive value was 14 % and 100 % respectively. The positive likelihood ratio was 4.17 and the negative likelihood ratio was 0. Conclusions: It is unnecessary to carry out VCUG in an infant with an initial UTI, and a negative DMSA (AU)

[Imaging studies in the first urinary infection with fever in infants: is voiding cystourethrography necessary?]. / Estudios por imagen en la primera infección urinaria con fiebre del lactante. Es necesaria la cistografía miccional?

INTRODUCTION: The presence of vesicoureteral reflux (VUR) in an infant with urinary tract infection (UTI), does not necessarily lead to an acquired renal injury. Only serious reflux can be a factor in fostering its appearance. OBJECTIVES: To assess whether in infants diagnosed for the first time with a UTI with a fever, a routine initial DMSA can be used as a screening method for detecting severe reflux and replace voiding cystourethrography (VCUG). PATIENTS AND METHODS: We retrospectively studied 162 infants under 2 years old admitted to our hospital due to having a ITU with fever for the first time (92 males and 70 females). In all cases, a renal ultrasound, DMSA and VCUG had been performed a few days after the diagnosis. RESULTS: Of the 162 patients, 62 (38 %) had VUR, of which 56 (90 %) were mild and 6 (10 %) were severe. The DMSA was abnormal in 26/100 patients without VUR (26 %), 12/56 with mild VUR (21 %) and 6/6 of those with severe VUR (100 %). DMSA sensitivity for detecting severe reflux was 100 % and specificity was 76 %. The positive predictive value and negative predictive value was 14 % and 100 % respectively. The positive likelihood ratio was 4.17 and the negative likelihood ratio was 0. CONCLUSIONS: It is unnecessary to carry out VCUG in an infant with an initial UTI, and a negative DMSA.

[Incomplete hemolytic uremic syndrome associated with partial factor H deficiency]. / Síndrome hemolítico urémico incompleto asociado a déficit parcial de factor H.

Hemolytic uremic syndrome (HUS) consists of the association of hemolytic anemia, thrombocytopenia and renal failure. Most cases are related to toxins (verotoxins) produced by Escherichia coli 0157:H7 and generally have good renal prognosis. Atypical forms can occur, with a less favorable prognosis, and can be due to mutations in the gene codifying factor H, a protein that regulates activation of the alternative complement pathway, among other causes. Factor H deficiency produces continuous complement activation, causing injury to capillary endothelial cells. We report a case of incomplete (absence of thrombocytopenia and uremia), atypical HUS in which hypocomplementemia secondary to partial factor H deficiency was detected, with favorable outcome. Prior to symptom onset, the patient had a Campylobacter infection, precipitating the symptoms. Genetic analysis showed a heterozygous mutation (C846T) located in the SCR4 domain, generating an amino acid change in the factor H molecule (Pro240Leu). This mutation may have been the cause of the partial factor H deficiency and the patient's symptoms on admission.

Síndrome hemolítico urémico incompleto asociado a déficit parcial de factor H / Incomplete hemolytic uremic syndrome associated with partial factor H deficiency

El síndrome hemolítico urémico (SHU) asocia anemia hemolítica, trombocitopenia e insuficiencia renal. La mayoría de los casos están relacionados con las toxinas (verotoxinas) producidas por Escherichia coli 0157:H7 y generalmente tienen un buen pronóstico renal. Existen formas atípicas, con peor pronóstico, que pueden ser secundarias, entre otras causas, a mutaciones en el gen codificador del factor H, proteína que regula la activación de la vía alternativa del complemento. Su déficit, produce una activación continua del complemento, dañando las células endoteliales de los capilares. Presentamos un caso clínico de SHU incompleto (ausencia de plaquetopenia y uremia) y atípico en el que se detectó una hipocomplementemia secundaria a un déficit parcial de factor H, cuya evolución fue favorable. Previo al inicio de los síntomas, el paciente presentó una infección por Campylobacter que actuó como agente precipitante del cuadro. El análisis genético demostró una mutación en heterocigosis (C846T) localizada en el dominio SCR4 que genera un cambio de aminoácido en la molécula del factor H (Pro240Leu). Es posible que dicha mutación haya sido la causante del déficit parcial del factor H y del cuadro que presentó al ingreso

Hemolytic uremic syndrome (HUS) consists of the association of hemolytic anemia, thrombocytopenia and renal failure. Most cases are related to toxins (verotoxins) produced by Escherichia coli 0157:H7 and generally have good renal prognosis. Atypical forms can occur, with a less favorable prognosis, and can be due to mutations in the gene codifying factor H, a protein that regulates activation of the alternative complement pathway, among other causes. Factor H deficiency produces continuous complement activation, causing injury to capillary endothelial cells. We report a case of incomplete (absence of thrombocytopenia and uremia), atypical HUS in which hypocomplementemia secondary to partial factor H deficiency was detected, with favorable outcome. Prior to symptom onset, the patient had a Campylobacter infection, precipitating the symptoms. Genetic analysis showed a heterozygous mutation (C846T) located in the SCR4 domain, generating an amino acid change in the factor H molecule (Pro240Leu). This mutation may have been the cause of the partial factor H deficiency and the patient's symptoms on admission

[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]. / Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana alpha-L-iduronidasa.

We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.

Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana α -L-iduronidasa / Outcome replacement of two patients with Hurler´s syndrome under enzyme replacement therapy with human recombinant α -L-iduronidase

Estudio prospectivo de 2 pacientes con enfermedad de Hurler (de 4,8 años y 17 meses de edad al inicio de la intervención) en tratamiento enzimático sustitutivo con enzima recombinante humana α -L-iduronidasa durante 52 y 28 semanas, respectivamente, con el objetivo de analizar la eficacia y seguridad de la intervención durante dicho período de tiempo. Se realizaron para ello diversas pruebas diagnósticas por imagen, exámenes clínicos y analíticos seriados que demostraron en ambos casos ser una terapia efectiva. En el caso 1 (varón de 4,8 años, homocigoto W402X) la intervención se planteó con fines paliativos desde el comienzo debido a su estado clínico muy evolucionado. En el caso 2 (mujer de 17 meses, heterocigota para W402X) la intervención se realizó de forma precoz y se observó una estabilización clínica posterior sin la adquisición de factores regresivos. Posteriormente se realizó con éxito un trasplante de médula ósea de donante no emparentado. Actualmente, ante la carencia de donantes de médula ósea histocompatibles, se está realizando trasplante de células madre hematopoyéticas procedentes de cordón o de sangre periférica con resultados satisfactorios. La terapia génica se considera el tratamiento futuro capaz de prevenir la enfermedad asociada al síndrome de Hurler y detener el deterioro neurocognitivo característico de estos pacientes.

We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant α -L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients

Episodio de hipotonía y debilidad de extremidades inferiores en dos hermanos / Episode of hypotonia and weakness ofth lower extremities

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