ABSTRACT
TITLE: Fenotipo frontera de la enfermedad de Pelizaeus-Merzbacher.
Subject(s)
Pelizaeus-Merzbacher Disease/diagnosis , Adolescent , Chromosomes, Human, X/genetics , Comparative Genomic Hybridization , Developmental Disabilities/etiology , Female , Humans , Intellectual Disability/etiology , Muscle Hypotonia/etiology , Myelin Proteolipid Protein/deficiency , Myelin Proteolipid Protein/genetics , Pelizaeus-Merzbacher Disease/diagnostic imaging , Pelizaeus-Merzbacher Disease/genetics , Phenotype , Receptors, Glycine/deficiency , Receptors, Glycine/genetics , Sequence Deletion , White Matter/diagnostic imaging , White Matter/pathologyABSTRACT
INTRODUCTION: Guillain-Barre syndrome is the most frequent cause of acute flaccid paralysis in children. AIM: To describe the characteristics of patients diagnosed with acute polyneuropathies and their long-term progress. PATIENTS AND METHODS: We conducted a retrospective descriptive analysis of children under 14 years of age admitted to our hospital between January 2004 and December 2014. Clinical, demographic and neurophysiological variables were collected together with other imaging tests. RESULTS: Twenty-six patients, with a mean age of 3.83 years, were diagnosed with acute polyneuropathies, four of them of Moroccan origin. Twenty of them (76%) had a history of previous infection. The mean time elapsed since the onset of the symptoms until admission to hospital was 9.2 days, and from admission until beginning with gamma globulins it was 1.6 days. The clinical signs and symptoms prior to diagnosis were of a very heterogeneous nature. They all presented muscular weakness; 90% displayed areflexia; and 30% showed involvement of the cranial nerves. All of them (100%) received intravenous gamma globulins, and 38.4% were given systemic corticosteroids. Two patients presented chronification of the pathology. There was no mortality in the series. CONCLUSIONS: The patients included in our study presented very unspecific symptoms in the early phases, which initially led to alternative diagnoses. To avoid this delay in the diagnosis, it is essential to perform an exhaustive physical examination that includes the myotatic reflexes and to maintain a high level of suspicion of the disease even with normal results in the complementary tests if they are performed at an early stage. We detected a greater number of cases of axonal polyneuropathy, which can possibly be explained by the high number of patients of Moroccan origin who were treated.
TITLE: Polineuropatias agudas en un hospital del sur de España: diez años de experiencia.Introduccion. El sindrome de Guillain-Barre es la causa mas frecuente de paralisis flacida aguda en niños. Objetivo. Describir caracteristicas de los pacientes diagnosticados de polineuropatias agudas y su evolucion a largo plazo. Pacientes y metodos. Analisis descriptivo retrospectivo de los menores de 14 años ingresados en nuestro hospital entre enero de 2004 y diciembre de 2014. Se recogieron variables clinicas, demograficas, neurofisiologicas y otras pruebas de imagen. Resultados. Veintiseis pacientes, con una mediana de edad de 3,83 años, fueron diagnosticados de polineuropatias agudas, cuatro de ellos de origen marroqui. Veinte (76%) tenian antecedentes de infeccion previa. El tiempo medio desde el inicio de los sintomas hasta su ingreso fue de 9,2 dias y, desde este hasta el inicio de gammaglobulinas, de 1,6 dias. La sintomatologia que precedio al diagnostico fue de caracter muy heterogeneo. Todos presentaron debilidad muscular; el 90%, arreflexia; y el 30%, afectacion de los pares craneales. El 100% recibio gammaglobulinas intravenosas, y el 38,4%, corticoides sistemicos. Presentaron cronificacion de la patologia dos pacientes. No hubo mortalidad en la serie. Conclusiones. Los pacientes incluidos en nuestro estudio presentaron en fases tempranas sintomas muy inespecificos que llevaron a diagnosticos alternativos iniciales; para evitar este retraso diagnostico, resulta fundamental realizar una exhaustiva exploracion fisica que incluya los reflejos osteotendinosos y mantener un alto indice de sospecha de la enfermedad aun con normalidad en las pruebas complementarias si estas son precoces. Detectamos un mayor numero de polineuropatia axonal, posiblemente explicado por el elevado numero de pacientes atendidos de origen marroqui.
Subject(s)
Polyneuropathies/epidemiology , Acute Disease , Child , Child, Preschool , Delayed Diagnosis , Emigrants and Immigrants , Female , Guillain-Barre Syndrome/diagnosis , Guillain-Barre Syndrome/epidemiology , Guillain-Barre Syndrome/etiology , Hospitals, University , Humans , Infant , Infections/complications , Male , Miller Fisher Syndrome/diagnosis , Miller Fisher Syndrome/epidemiology , Morocco/ethnology , Polyneuropathies/diagnosis , Polyneuropathies/etiology , Recovery of Function , Retrospective Studies , Spain/epidemiology , Symptom AssessmentABSTRACT
INTRODUCTION: A deficiency of the enzyme guanosine triphosphate cyclohydrolase I (GTPCH 1) causes a reduction in the synthesis of tetrahydrobiopterin (BH4), a cofactor that is essential in the synthesis of tyrosine, dopamine and serotonin. It is an infrequent disease that produces psychomotor delay or regression and movement disorders, although treatment can improve or even correct the clinical signs and symptoms. CASE REPORT: We report the case of a girl with autosomal recessive GTPCH deficiency, who was diagnosed at 14 months by means of an analysis of the cerebrospinal fluid with pterin, HVA and 5-HIAA deficiency, and positive phenylalanine overload test and genetic study. The clinical features began at the age of 5 months with intermittent upper limb and brain tremors, both at rest and intentional, that disappeared after a month. Psychomotor development was normal, mild axial hypotonia being found in the examination while the complementary tests that were performed were normal. The patient later presented psychomotor regression with loss of head control, diminished active movements, difficulty in bimanual manipulation, hypomimia and severe global hypotonia, which was the reason for the study of a progressive encephalopathy. Following the diagnosis of GTPCH deficiency, replacement therapy was established with levodopa/carbidopa, OH tryptophan and BH4, with excellent progress made in motor and cognitive functioning. Today, the patient is 5 years old, has an adequate psychomotor development for her age, is in the third year of preschool education and has caught up with the level of the rest of her classmates. CONCLUSION: In this case attention must be drawn to the extremely satisfactory motor and cognitive improvement of the patient after starting replacement therapy, as in many cases the cognitive level is usually affected on a permanent basis.
TITLE: Deficit de GTPCH 1 autosomico recesivo: importancia del analisis de los neurotransmisores en el liquido cefalorraquideo.Introduccion. El deficit de la enzima trifosfato de guanosina ciclohidrolasa 1 (GTPCH 1) origina una disminucion de la sintesis de la tetrahidrobiopterina (BH4), cofactor indispensable en la sintesis de la tirosina, la dopamina y la serotonina. Es una enfermedad poco frecuente que produce un retraso o regresion psicomotora y trastornos del movimiento, y en la que el tratamiento puede mejorar o incluso corregir la clinica. Caso clinico. Niña afecta de deficit de GTPCH con herencia autosomica recesiva, diagnosticada a los 14 meses con estudio del liquido cefalorraquideo con deficit de pterinas, HVA y 5-HIAA, test de sobrecarga de fenilalanina y estudio genetico positivos. La clinica comenzo a los 5 meses con temblor cefalico y de las extremidades superiores, en reposo e intencional, intermitente, que desaparecio en un mes. El desarrollo psicomotor era normal, destacaba una hipotonia axial leve en la exploracion y las pruebas complementarias realizadas fueron normales. Posteriormente presento regresion psicomotora con perdida del sosten cefalico, disminucion de los movimientos activos, dificultad para la manipulacion bimanual, hipomimia e hipotonia global grave, lo que motivo el estudio de una encefalopatia progresiva. Tras el diagnostico de deficit de GTPCH, inicio tratamiento sustitutivo con levodopa/carbidopa, OH triptofano y BH4, con muy buena evolucion tanto motora como cognitiva. Actualmente, la paciente tiene 5 años, presenta un desarrollo psicomotor adecuado a su edad, cursa tercer curso de educacion infantil y ha alcanzado el nivel de su clase. Conclusion. Hay que destacar en este caso la mejoria tan satisfactoria, tanto motora como cognitiva, tras iniciar el tratamiento sustitutivo, ya que el nivel cognitivo suele quedar afectado en muchos casos.
Subject(s)
Biopterins/biosynthesis , GTP Cyclohydrolase/deficiency , Neurotransmitter Agents/cerebrospinal fluid , Psychomotor Disorders/diagnosis , Female , Humans , Infant , PhenylalanineSubject(s)
Focal Nodular Hyperplasia/diagnosis , Liver/pathology , Diagnosis, Differential , Humans , HyperplasiaABSTRACT
La histiocitosis de células de Langerhans (HCL) es una enfermedad poco frecuente, que en muy pocos casos se ha descrito asociada a algunas enfermedades malignas, como la enfermedad de Hodgkin (EH). La afectación del sistema nervioso central (SNC) por la EH se presenta con baja frecuencia, generalmente limitada a los casos de enfermedad avanzada y recurrente. Describimos el caso de un niño que desarrolló estas dos raras circunstancias: por un lado, la coexistencia de la EH y la HCL y, por otro, la recaída de la EH en el SNC (AU)
Langerhans cell histiocytosis (LCH) is a rare disease in children and in a few cases has been described associated to some malignancies like Hodgkins disease (HD). Central nervous system (CNS) involvement in HD has been observed in few cases with systemic and recurrent diseases. We report a case of a child who developed these two rare clinical conditions, the coexistence of HD and LCH and the relapse of HD in CNS (AU)
Subject(s)
Child , Humans , Male , Histiocytosis, Langerhans-Cell/etiology , Hodgkin Disease/pathology , Central Nervous System/pathology , Histiocytosis, Langerhans-Cell/therapy , Hodgkin Disease/therapy , BiopsyABSTRACT
El enfisema lobar congénito suele tratarse quirúrgicamente. Actualmente, se recomienda el término de hiperinsuflación lobar congénita, ya que se trata de un tejido pulmonar anatomopatológicamente sano, motivo por el que el manejo conservador puede ser una alternativa válida. Se presentan 4 casos diagnosticados de hiperinsuflación lobar congénita en los que se optó por el tratamiento conservador debido a su estabilidad clínica y en los que la evolución de los mismos ha sido satisfactoria con normalidad radiológica progresiva
Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Pulmonary Emphysema/congenital , Bronchi/abnormalities , Respiratory System Abnormalities , Lung/abnormalities , Organ Sparing Treatments/methods , Asphyxia Neonatorum/etiologyABSTRACT
Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.
