[Reversible posterior leukoencephalopathy syndrome: an infrequent complication in the course of haemolytic-uremic syndrome]. / Leucoencefalopatía posterior reversible: una complicación infrecuente en el curso del síndrome hemolítico urémico.

INTRODUCTION: Posterior reversible leukoencephalopathy syndrome (PRLS) is characterised by the sudden and usually transient onset of headaches, visual disorders, decreased awareness and convulsions associated with cerebral oedema in the posterior areas of the brain. Different reports have associated it with numerous processes and possibly with haemolytic-uremic syndrome (HUS). We describe a new case of PRLS within the context of HUS. CASE REPORT: We describe the case of a 4-year-old child with HUS who developed arterial hypertension that did not respond well to treatment and kidney failure that required renal replacement therapy. During the course of the disease the patient presented several transient episodes of headache, a lowered level of consciousness and seizures. Magnetic resonance imaging revealed multiple lesions in the white matter and the cortex that were hyperintense in T2 and hypointense in T1 situated in the bilateral occipital and right frontotemporoparietal regions. The patient made a full clinical recovery in a few days, although an magnetic resonance imaging scan performed at six weeks after the last episode showed partial remission of the lesions and a small cerebral infarction. CONCLUSIONS: The pathogenesis of PRLS is still not fully understood. Its multifactorial origin suggests that several different mechanisms may be involved. In the case reported here, it is possible that the arterial hypertension, retention of fluids and even the sessions of dialysis played a role in its development.

[Aicardi-Goutières syndrome: report of two new cases]. / Síndrome de Aicardi-Goutières: aportación de dos nuevas observaciones.

INTRODUCTION: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-alpha in blood and cerebrospinal fluid (CSF) form part of this syndrome. CASES REPORTS: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay. Mild choreic and dystonic movements, as well as progressive spasticity, were also observed in the girl. Extensive investigations revealed intracranial calcifications, mild CSF lymphocytosis in the boy, and raised IFN-a in blood and CSF in both patients. COMMENTS: Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection. Appropriate genetic counseling should be provided.

[Pyruvate dehydrogenase deficiency and cerebral malformations]. / Déficit de piruvato deshidrogenasa y malformaciones cerebrales.

Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and severe global developmental delay. A deficiency of PDH E1 alpha, a subunit of the PDH complex is a prominent cause of congenital lactic acidosis. The E1 alpha cDNA and corresponding genomic DNA have been located in the short arm of the X-chromosome (Xp22-1). A isolated 'cerebral' lactic acidosis with cerebral dysgenesis is a recognized pattern of presentation of PDH deficiency. Here, we report clinical features, magnetic resonance, and biochemical studies of two females aged 6 months (case 1) and 26 months (case 2). Both had severe development delay, minor dysmorphic features, microcephaly, severe hypoplasia of the corpus callosum, cerebral atrophy, ventricular dilatation and increase in serum lactate levels without systemic acidosis. Urinary organic acid profile was compatible with PDH deficiency. Increased CSF lactate and pyruvate levels and reduced total PDH and PDH E1 activities in muscle and fibroblasts were observed in case 1. Otherwise, decreased total PDH activity in muscle but not in fibroblasts was seen in case 2. The PDH E1á gene was sequenced in the case 1 and a deletion in exon 7 was demonstrated. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF.

[Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings]. / Hipomelanosis de Ito: autismo, dilatación segmentaria de colon y hallazgo inusual en neuroimagen.

INTRODUCTION: Hipomelanosis of Ito (HI) also called Incontinentia pigmenti achromians, is the third most frequent neurocutaneous disorder. The abnormal skin lesions are more evident under Wood's lamp and consist of hypopigmented areas with irregular borders, streaks, whorls or patches which are usually distributed on the trunk or on the limbs. Non-cutaneous abnormalities, particularly of the central nervous system, eye, teeth and skeleton, have been reported in 76-94% of patients. CLINICAL CASES AND CONCLUSIONS: In the present paper, we report two cases of Hipomelanosis of Ito in two female girls with facial coarse features. In the first case the psychomotor development was normal. Segmental dilatation of the colon, precocious pubarchy, abnormal periventricular white matter hipersignal on MRI and nodular mass on left caudate nuclei were also present. In the second case a severe developmental delay and autistic behaviour were the prominent features. To our knowledge, findings described in case 1 were not previously reported in association with HI.

[Striated osteopathy with cranial sclerosis and macrocephaly in childhood. Report of 2 cases]. / Osteopatía estriada con esclerosis craneal y macrocefalia en la infancia. Aportación de dos casos.

INTRODUCTION: Osteopathia striata with cranial sclerosis (OS-CS) is a specific and rare bone dysplasia, with autosomal dominant inheritance. Radiographic features are typical: linear striations, particularly of long bones, and increased density mostly of the cranial basis. Facial impression is also typical, with frontal bossing, hypertelorism, epicanthic folds and both broad and depressed nasal bridge. Macrocephaly, usually present at birth, is likely to be the initial manifestation and has an uneventful course. CLINICAL CASES: Two girls, aged 3 years-5 months and 5 years-4 months with OS-CS and macrocephaly are reported here. They were evaluated from neonatal period for macrocephaly not complicated associated with peculiar facial appearance. At age of 3 years, radiologic examination showed linear striations of the long bones and sclerosis of the skull base. Their development were normal and no related deficiency was detected. Parents roentgenographs were normal. CONCLUSION: We conclude that OS-CS should be considered in the differential diagnosis in infants with macrocephaly without complications, specially if the facial appearance is striking.

[The role of MRI in the early diagnosis of pyomyositis in children]. / Papel de la resonancia magnética en el diagnóstico precoz de la piomiositis en niños.

OBJECTIVE: To evaluate the role of MRI in the early diagnosis and therapeutic assessment of pyomyositis. MATERIAL AND METHODS: We reviewed the cases of 11 patients with proven pyomyositis presenting from January 2002 to March 2006. We describe the characteristic findings at plain-film radiography, ultrasound, and MRI, as well as the clinical presentation and laboratory findings. RESULTS: The mean age of presentation was 10 years (range 3-14 years); there was a male predominance (7 cases). Only 4 patients had predisposing conditions. The most common clinical symptom was fever (9 cases). The most common laboratory findings were elevated erythrocyte sedimentation rate (10 cases) and leukocytosis (8 cases). Plain-film and US findings were nonspecific in all cases. Scintigraphy was positive in 4 cases. MRI showed osteomuscular involvement in all cases and enabled the abscesses to be identified. CONCLUSIONS: Pyomyositis is a primary bacterial infection of skeletal muscle. In recent years pyomyositis has increasingly been diagnosed even in patients without predisposing factors. There is a male predominance. Imaging is essential for the diagnosis of the pyomyositis, and radiologists play a crucial role in the early diagnosis of this infection. MRI is the imaging method of choice for characterizing the infection.

Reacción paradójica al tratamiento antituberculoso en un caso de tuberculosis pulmonar / Paradoxical reaction to the treatment of a patient with pulmonary tuberculosis

Los pacientes con tuberculosis pueden presentar un empeoramiento transitorio de la enfermedad después de iniciar un tratamiento antituberculoso adecuado. Es lo que se denomina «reacción paradójica al tratamiento antituberculoso». Es más frecuente en pacientes infectados por el virus de la inmunodeficiencia humana, pero también ocurre en los no infectados. Son pacientes que, tras una mejoría inicial, presentan nuevas lesiones o las ya existentes empeoran. Se ha sugerido que estas reacciones se deben a la recuperación del sistema inmunitario que ocurre en el curso de un tratamiento. El diagnóstico sólo es posible después de un estudio exhaustivo que descarte otras causas de empeoramiento de la enfermedad, especialmente el fracaso o el incumplimiento terapéutico. El tratamiento es sintomático en las reacciones leves, y no es preciso modificar el régimen inicial de fármacos. En las formas más graves los expertos aconsejan el uso de corticoides, tema que aún es motivo de discusión. El conocimiento de estas reacciones permite informar adecuadamente a los pacientes y sus familias, y evitar procedimientos invasivos y modificaciones innecesarias en el tratamiento. Presentamos el caso de una niña de 2 años de edad con tuberculosis pulmonar y adenitis cervical tuberculosa, que presentó una reacción paradójica un mes y medio después de iniciado el tratamiento antituberculoso. Se revisa la bibliografía relacionada (AU)

Patients with tuberculosis (TB) may show a transitional worsening of their disease after starting an adequate tuberculosis drugs therapy. That is a so-called paradoxical reaction. It is more frequent in patients infected by the human immunodeficiency virus (HIV), but it can also take place in non-infected ones. These are patients who, after an initial improvement, develop new lesions or suffer worsening of pre-existing ones. It has been suggested that these reactions are caused by a recovery of the altered immune response as a result of appropriate treatment. The diagnosis is only possible after an exhaustive study that excludes other potential causes of worsening, especially treatment failure or non-adherence to the treatment. The treatment is merely symptomatic in case of mild reactions and it is not necessary to modify the therapeutic plan. In the most severe reactions, experts suggest the use of corticosteroids, although the latter is still subject of discussion. The knowledge of these reactions allows providing accurate information to the patients and their families, therefore avoiding invasive procedures and unnecessary modifications of the treatment. We report the case of a two-year-old girl with pulmonary tuberculosis and tuberculous cervical adenitis presenting paradoxical reaction one month and a half after initiating the treatment for tuberculosis. The related literature is reviewed (AU)

Papel de la resonancia magnética en el diagnóstico precoz de la piomiositis en niños / The role of MRI in the early diagnosis of pyomyositis in children

Objetivos. Valorar el papel de la resonancia magnética (RM) en el diagnóstico precoz y el manejo terapéutico de la piomiositis. Material y métodos. Revisión retrospectiva de 11 casos de piomiositis, vistos entre enero de 2002 y marzo de 2006. Se analizan los hallazgos en radiología simple, ecográficos y por RM, así como la presentación clínica asociada. Resultados. La edad media de presentación fue de 10 años, con predominancia masculina en 7 casos. Sólo 4 de nuestros pacientes presentaron antecedentes de interés. El motivo de consulta más común presentado en 9 de los pacientes fue fiebre. Los hallazgos analíticos al ingreso fueron aumento de la velocidad de sedimentación globular (VSG) en 10 casos y leucocitosis en 8. Las radiografías y la ecografía resultaron inespecíficas en todos los pacientes evaluados, y la gammagrafía resultó positiva en 4 casos. La RM mostró afectación osteomuscular en todos los pacientes y permitió la identificación de abscesos. Conclusiones. La piomiositis es una infección bacteriana que aparece en nuestra sociedad incluso sin factores predisponentes, con predominancia masculina, en la que el radiólogo desempeña un papel fundamental para realizar un diagnóstico precoz de la misma, siendo la RM la técnica de elección para caracterizar la infección

Objective. To evaluate the role of MRI in the early diagnosis and therapeutic assessment of pyomyositis.Material and methods. We reviewed the cases of 11 patients with proven pyomyositis presenting from January 2002 to March 2006. We describe the characteristic findings at plain-film radiography, ultrasound, and MRI, as well as the clinical presentation and laboratory findings. Results. The mean age of presentation was 10 years (range 3-14 years); there was a male predominance (7 cases). Only 4 patients had predisposing conditions. The most common clinical symptom was fever (9 cases). The most common laboratory findings were elevated erythrocyte sedimentation rate (10 cases) and leukocytosis (8 cases). Plain-film and US findings were nonspecific in all cases. Scintigraphy was positivein 4 cases. MRI showed osteomuscular involvement in allcases and enabled the abscesses to be identified.Conclusions. Pyomyositis is a primary bacterial infectionof skeletal muscle. In recent years pyomyositis has increasingly been diagnosed even in patients without predisposing factors. There is a male predominance. Imaging is essential for the diagnosis of the pyomyositis, and radiologists play a crucial role in the early diagnosis of this infection. MRI is the imaging method of choice for characterizing the infection

Leucoencefalopatía posterior reversible: una complicación infrecuente en el curso del síndrome hemolítico urémico / Reversible posterior leukoencephalopathy syndrome: an infrequent complication in the course of haemolytic syndrome

Introducción. El síndrome de leucoencefalopatía posterior reversible (SLPR) se caracteriza por la presentación aguda y habitualmente transitoria de cefalea, trastornos visuales, depresión del sensorio y convulsiones asociadas a un edema cerebral en las regiones posteriores del cerebro. Se ha descrito su asociación con múltiples procesos y eventualmente con el síndrome hemolítico urémico (SHU). Aportamos un nuevo caso de SLPR en el contexto de un SHU. Caso clínico. Niño de 4 años con un SHU, que desarrolló una hipertensión arterial de difícil control y una insuficiencia renal que precisó una terapia de reemplazo renal. Durante el curso de la enfermedad presentó varios episodios transitorios de cefalea, disminución del nivel de conciencia y crisis convulsivas. La resonancia magnética evidenció múltiples lesiones en la sustancia blanca y el córtex hiperintensas en T2 e hipointensas en T1 localizadas en la zona occipital bilateral y frontotemporoparietal derecha. La recuperación clínica fue completa en un período de días, si bien una resonancia magnética realizada a las seis semanas del último episodio mostró una remisión parcial de las lesiones y un pequeño infarto cerebral. Conclusiones. El SLPR es un trastorno cuya patogenia no se ha aclarado. Su origen multifactorial sugiere que diferentes mecanismos pueden estar implicados. En el caso presentado es posible que la hipertensión arterial, la retención de fluidos e incluso la diálisis hayan contribuido a su desarrollo

Introduction. Posterior reversible leukoencephalopathy syndrome (PRLS) is characterised by the sudden and usually transient onset of headaches, visual disorders, decreased awareness and convulsions associated with cerebral oedema in the posterior areas of the brain. Different reports have associated it with numerous processes and possibly with haemolyticuremic syndrome (HUS). We describe a new case of PRLS within the context of HUS. Case report. We describe the case of a 4-year-old child with HUS who developed arterial hypertension that did not respond well to treatment and kidney failure that required renal replacement therapy. During the course of the disease the patient presented several transient episodes of headache, a lowered level of consciousness and seizures. Magnetic resonance imaging revealed multiple lesions in the white matter and the cortex that were hyperintense in T2 and hypointense in T1 situated in the bilateral occipital and right frontotemporoparietal regions. The patient made a full clinical recovery in a few days, although an magnetic resonance imaging scan performed at six weeks after the last episode showed partial remission of the lesions and a small cerebral infarction. Conclusions. The pathogenesis of PRLS is still not fully understood. Its multifactorial origin suggests that several different mechanisms may be involved. In the case reported here, it is possible that the arterial hypertension, retention of fluids and even the sessions of dialysis played a role in its development

Síndrome de Aicardi-Goutières: aportación de dos nuevas observaciones / Aicardi-Goutières syndrome: report of two new cases

Introducción: El síndrome de Aicardi-Goutières es una enfermedad neurodegenerativa de herencia autosómica recesiva, que se caracteriza por presentar encefalopatía grave y progresiva de inicio precoz, microcefalia evolutiva, disfunción piramidal- extrapiramidal, calcificaciones intracraneales especialmente a nivel de ganglios basales, afectación de la sustancia blanca, linfocitosis y elevación del interferón alfa (IFN-alfa) en líquido cefalorraquídeo (LCR) y en sangre. Casuística: Aportamos dos nuevas observaciones (un niño de 3 meses de edad y una niña de 11 meses) con clínica de hipotonía, microcefalia, retraso psicomotor, signos piramidales y extrapiramidales en la niña. Se demostró calcificaciones intracraneales, linfocitosis en LCR en el niño, y en ambos elevación del IFN-alfa en sangre y LCR. Comentarios: Es importante tener presente esta entidad a pesar de su relativa rareza, ante un paciente con afectación del desarrollo psicomotor, microcefalia y presencia de calcificaciones intracraneales, debido a las distintas consideraciones de cara al consejo genético que tiene con respecto a otras entidades más prevalentes y fácilmente confundibles, como las infecciones TORCH (toxoplasmosis, rubéola, citomegalovirus, herpes)

Introduction: Aicardi-Goutières syndrome is an early onset autosomal recessive progressive encephalopathy, clinically characterized by acquired microcephaly, severe psychomotor delay and involvement of pyramidal and extrapyramidal tracts. Intracranial calcifications, especially at the level of the basal ganglia, white matter abnormalities, lymphocytosis and raised interferon (IFN)-alpha in blood and cerebrospinal fluid (CSF) form part of this syndrome. Cases reports: We describe two unrelated infants (a 3-month-old boy and an 11-month-old girl) who both presented with hypotonia, microcephaly, and psychomotor delay. Mild choreic and dystonic movements, as well as progressive spasticity, were also observed in the girl. Extensive investigations revealed intracranial calcifications, mild CSF lymphocytosis in the boy, and raised IFN-alpha in blood and CSF in both patients. Comments Aicardi-Goutières syndrome should be kept in mind when investigating microcephalic and retarded patients with cerebral calcifications initially suggestive of TORCH infection. Appropriate genetic counseling should be provided

Monoparesia espástica / Spastic monoparesis

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