[Hemophagocytic syndrome secondary to visceral leishmaniasis]. / Síndrome hemofagocítico secundario a leishmaniasis visceral.

Haemophagocytic syndrome is a disease diagnosed according to clinical and analytical criteria, related to many infectious diseases. It is exceptionally described in patients infected with Leishmania. Visceral leishmaniasis is an uncommon disease in our country except in some areas where it is endemic. Its diagnosis is sometimes difficult and the use of other methods currently available is needed. Haemophagocytic syndrome treatment is based on established chemotherapy protocols, but when it is secondary to Visceral Leishmaniasis, it may be an exception, since the abnormalities can be resolved by treatment of the infection itself. This treatment has improved recently as Liposomal Amphotericin B has replaced classic antimonials, being more beneficial due to less adverse effects and a shorter treatment time.

Síndrome hemofagocítico secundario a leishmaniasis visceral / Hemophagocytic syndrome secondary to visceral leishmaniasis

El síndrome hemofagocítico es una enfermedad diagnosticada basándose en criterios clínicos y analíticos, relacionada con numerosas entidades infecciosas. De forma excepcional se ha descrito en pacientes infectados con el parásito Leishmania. La leishmaniasis visceral es una patología infrecuente en nuestro país, salvo en zonas concretas donde es endémica. Su diagnóstico en ocasiones es difícil y hay que recurrir a varios de los métodos actualmente disponibles. El tratamiento del síndrome hemofagocítico se fundamenta en pautas quimioterápicas protocolizadas, aunque puede representar una excepción cuando es secundario a la leishmaniasis visceral, ya que el tratamiento antiinfeccioso suele resolver las alteraciones por sí mismo. Dicha terapia ha evolucionado en los últimos tiempos al sustituir la anfotericina B liposomal a las pautas clásicas con antimoniales y logrando beneficios por sus menores efectos secundarios y por acortar el tiempo de tratamiento (AU)

Haemophagocytic syndrome is a disease diagnosed according to clinical and analytical criteria, related to many infectious diseases. It is exceptionally described in patients infected with Leishmania. Visceral leishmaniasis is an uncommon disease in our country except in some areas where it is endemic. Its diagnosis is sometimes difficult and the use of other methods currently available is needed. Haemophagocytic syndrome treatment is based on established chemotherapy protocols, but when it is secondary to Visceral Leishmaniasis, it may be an exception, since the abnormalities can be resolved by treatment of the infection itself. This treatment has improved recently as Liposomal Amphotericin B has replaced classic antimonials, being more beneficial due to less adverse effects and a shorter treatment time (AU)

Enfermedades peroxisomales: análisis de los niveles de ferritina en el síndrome cerebrohepatorrenal de Zellweger / Peroxisomal diseases: an analysis of ferritin levels in Zellweger’s cerebrohepatorenal syndrome

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Síndrome de Walker-Warburg en gemelos de etnia gitana / No disponible

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[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. / Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia.

INTRODUCTION: In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. CASE REPORTS: We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblings presented anomalies in the central nervous system. CONCLUSIONS: The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling.

Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia / Pena-shokeir syndrome type i, associated to klippel-feil syndrome type ii in the same family

Introducción. Pena y Shokeir, en 1974, describen un trastorno letal temprano (OMIM 208150) caracterizado por artogriposis neurogénica, anormalidades faciales e hipoplasia pulmonar. Actualmente se ha sugerido que es secundario a la disminución de movimientos en el útero por patología intrínseca sin importar la causa (síndrome FADS, fetal akinesia deformation sequence). El síndrome de Klippel-Feil (K-F) –OMIM 118100– está definido por la fusión congénita de una o dos vértebras cervicales y clínicamente presenta cuello corto, limitación de los movimientos de la cabeza, y puede asociar además otras malformaciones. Casos clínicos. Presentamos una familia diagnosticada de síndrome de K-F tipo II. Se evidenció en el padre y una hija, y otro hijo presentó secuencia de Pena-Shokeir tipo I y falleció en período neonatal. Los dos hermanos presentaron anomalías del sistema nervioso central. Conclusiones. El síndrome FADS presenta una incidencia de 1/10.000 nacidos, y el síndrome de K-F, 1/35.000-42.000 nacimientos. Revisamos la bibliografía del síndrome FADS y entre su etiología no hemos encontrado la asociación familiar con el síndrome de K-F. Nuestro objetivo es comunicar que la asociación entre ambas entidades es posible, lo cual resulta de gran importancia para establecer un consejo genético adecuado

Introduction. In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. Case reports. We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblingspresented anomalies in the central nervous system. Conclusions. The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling

[Vegetarian diet in glutaric aciduria type I]. / Dieta vegetariana en aciduria glutárica tipo I.

Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency. Values of glutaric and -hydroxyglutaric acids in urine are usually increased. Currently, the disease is considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to pre-symptomatic children and usually to the siblings of patients with this diagnosis. We present the case of a 23-month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and vitamin supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

Dieta vegetariana en aciduria glutárica tipo I / Vegetarian diet in glutaric aciduria type I

La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ 30.000), caracterizada por discinesia y distonía progresiva en niños, patológicamente por degeneración estriatal, en particular de los núcleos caudado y putamen, y bioquímicamente por deficiencia en tejidos de glutaril-CoA deshidrogenasa, con cifras usualmente elevadas de ácidos glutárico y betahidroxiglutárico en orina. Actualmente no se considera una enfermedad tratable, puesto que al diagnóstico del paciente suele haber lesiones irreversibles en sistema nervioso central, beneficiándose del tratamiento los niños presintomáticos y, en general, los hermanos de otros pacientes ya diagnosticados. Se presenta un niño de 23 meses con macrocefalia y mínimas manifestaciones neurológicas al diagnóstico, atribuidas a que el niño seguía una dieta semivegetariana. El establecimiento dietético y suplementos vitamínicos ha detenido e incluso mejorado la progresión sintomática de la enfermedad. Se concluye que a todo niño con macrocefalia progresiva de etiología no filiada se le debe realizar estudio de aminoácidos y ácidos orgánicos en orina para descartar aciduria glutárica tipo I (AU)

[Neonatal convulsions caused by incontinentia pigmenti with left opercular dysgenesia]. / Convulsiones neonatales por incontinencia pigmenti con disgenesia opercular izquierda.

AIMS: In this paper we review the main publications on incontinentia pigmenti (IP) and the current knowledge of the etiopathogenesis of the disease and of the convulsions in the neonatal period, by considering a clear case of neonatal IP, with skin, eye, brain and bone lesions. CASE REPORT: Our patient, a female, started with clonic seizures in the right half of the body at the age of three days. Method. IP, or Bloch Sulzberger syndrome, is a genetic multisystemic neuroectodermic disorder. It is a disease of low incidence (1% of all neuroectodermic disorders) which is transmitted by means of a pattern of dominant inheritance linked to X, and is lethal in males, except in rare cases of somatic mosaicism and Klinefelter. In the family forms the gene is located in the p11 (IP 1) and q28 (IP 2) regions of the X chromosome. It has recently been discovered that the cause lies in a mutation of a gene called NEMO (IKK gamma). Together with Bourneville s tuberous sclerosis it is the only neurocutaneous syndrome that can begin with neonatal convulsions. The convulsions start on the second or third day of life and are often limited to a single side of the body, although it can also appear as encephalitis. The origin of the convulsions has been linked with recurring encephalomyelitis, or with an alteration of the neuronal migration. CONCLUSIONS: The cause of the early convulsions in our patient, which we put down to a left perisylvian focal dysgenesia (unilateral opercular syndrome) observed in the computerised axial tomography (CAT scan), has not been reported up to the present associated with IP.

Lesión medular intraúteropor posición transversa. Imágenes de resonancia magnética / Intrauterine spinal cord injury resulting from a transverse lie. Magnetic resonance imaging

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Síndrome de cutis laxa congénita / Congenital cutis laxa syndrome

El síndrome de cutis laxa comprende un grupo de enfermedades del tejido conectivo que se caracterizan por la relajación de la piel que cuelga en forma de pliegues flácidos sin elasticidad y que produce un aspecto de envejecimiento precoz.Exponemos el caso de un recién nacido, a término, de 2.650 g de peso, de sexo femenino, que presentaba piel redundante al nacimiento y facies con frente ancha, micronagtia, labios finos con pliegues nasogenianos marcados y fontanela anterior amplia de 4 x 5 cm. A los 3 meses de edad se observó una acentuación del aspecto de envejecimiento y la presencia de grandes pliegues en cara abdomen y región sacra. El cariotipo era normal, 46 XX. El estudio ecográfico renal y cerebral también era normal. En el ecocardiograma se apreciaba una comunicación interventricular subaórtica. Se diagnosticó síndrome de cutis laxa congénita tipo III autosómico recesivo por su aparición en el periodo neonatal y la ausencia de alteraciones gastrointestinales o pulmonares asociadas (AU)

Fibrosis hepática congénita y enfermedad poliquística renal autosómica recesiva / Congenital hepatic fibrosis and autosomal recessive policystic kidney disease

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[Monitoring of gentamycin serum concentration in neonates. Usefulness in adjustment of dosage]. / Monitorización de niveles séricos de gentamicina en neonatos. Utilidad para el ajuste de dosis.

OBJECTIVE: The objective of this study was to confirm the variation of the pharmacokinetic parameters of gentamicin in neonates and to establish guidelines for a dosage regimen. PATIENTS AND METHODS: A study was made of 89 neonates being treated with gentamicin. The gestational ages ranged from 25 to 41 weeks and the postnatal age between 1 and 30 days. Weights were between 600 and 4,400 grams. The average dose was 2.45 +/- 0.4 mg/kg/dose. Groups were established according to gestational age (under 34 weeks, 34-37 weeks and over 37 weeks) and postnatal age (over and under 7 days old). RESULTS: The elimination half-life (t1/2) was significantly reduced (p < 0.01) in the different age groups. The distribution volume (V) showed a slight decrease corresponding to the gestational age, but this was not significant. The results suggest that the dosages applied in mg/kg were sufficient to attain potentially therapeutic peak blood levels (Cmax). However, the dosage should be administered at different intervals according to the age groups in order to allow the trough levels (Cmin) to come down to values which are considered to be therapeutic. CONCLUSIONS: An interval of 24 hours is recommended for preterm babies with a postnatal age of less than 7 days and an interval of 12 hours for the remainder of the infant population.