ABSTRACT
INTRODUCTION: Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication. CASE REPORT: An 8 year old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample. CONCLUSIONS: Even with all today's progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctor's duty and right to exhaust all the diagnostic possibilities available.
Subject(s)
Rhabdomyolysis/mortality , Biopsy , Child , Fatal Outcome , Female , Humans , Muscle, Skeletal/pathology , Rhabdomyolysis/diagnosis , Rhabdomyolysis/physiopathologyABSTRACT
Introducción. La rabdomiólisis es un síndrome caracterizado por una destrucción muscular que lleva al paso de metabolitos tóxicos intracelulares al sistema circulatorio. Suele tener un curso evolutivo benigno, pero puede tener complicaciones graves y potencialmente fatales, dependientes en gran parte de la causa. Los trastornos del metabolismo energético muscular se pueden manifestar por una rabdomiólisis recurrente, cuyo mayor riesgo es habitualmente el fracaso renal. Caso clínico. Niña de 8 años con antecedente de un episodio de rabdomiólisis e1 año previo, que falleció en la Unidad de Cuidados Intensivos Pediátricos durante un cuadro agudo de rabdomiólisis y shock refractario. Se obtuvo una biopsia muscular, pero la muestra no resultó adecuada para establecer un diagnóstico. Conclusiones. Incluso con todos los avances bioquímicos, moleculares y genéticos actuales, la causa de la rabdomiólisis recurrente no es fácil de identificar. Se destaca la evolución fatal de un problema habitualmente benigno, cuya complicación más grave se considera el fallo renal, producido de forma retardada en caso de una grave descompensación inadecuadamente tratada. Se aconseja tener pautada la adecuada recogida, preparación y almacenaje de muestras biológicas para estudios bioquímicos, enzimáticos, inmunohistoquímicos y de ADN, que pueden llevar al diagnóstico en caso de fallecimiento por causa desconocida. Se destaca el deber y el derecho de los médicos a apurar las posibilidades diagnósticas (AU)
Introduction. Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication. Case report. An 8-year-old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample. Conclusions. Even with all todays progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctors duty and right to exhaust all the diagnostic possibilities available (AU)
Subject(s)
Child , Humans , Female , Biopsy , Rhabdomyolysis , Muscle, Skeletal , Fatal OutcomeABSTRACT
The Chiari type II malformation is the main cause of death in children with myelomeningocele, usually due to respiratory dysfunction, and unfortunately there is no effective cure. Episodic symptoms of brain stem dysfunction are frequent. We report a child with Chiari type II malformation and brain stem dysfunction who required tracheotomy and who was fed through a nasogastric tube from the age of 1.5 months. He first presented episodic symptoms at the age of 8 months and died at 9 months due to respiratory dysfunction despite intensive care. We also report our experience in the last 12 years with four patients with Chiari type II malformation and episodic symptoms of brain stem dysfunction. Both patients who required mechanical ventilation died. Neither surgical decompression nor intensive care prevented the fatal outcome, which was unpredictable and inevitable. Prognosis may be more positive in less severe cases, because the two patients that did not require mechanical ventilation show favorable outcome to date.
Subject(s)
Arnold-Chiari Malformation/complications , Arnold-Chiari Malformation/therapy , Brain Diseases/complications , Fatal Outcome , Humans , Infant , Male , Respiration, ArtificialABSTRACT
La malformación de Chiari tipo II es la principal causa de muerte en niños con mielomeningocele, habitualmente por disfunción respiratoria, y por desgracia no tiene un tratamiento eficaz. Es frecuente la sintomatología episódica con signos de disfunción de tronco.Se presenta un niño afectado de malformación de Chiari tipo II con disfunción de tronco que había precisado traqueotomía y alimentación por sonda nasogástrica desde el mes y medio de vida, que a partir de los 8 meses presentó sintomatología episódica y que falleció a los 9 meses de vida por disfunción progresiva de tronco, sin que pudieran evitarlo los cuidados intensivos. Se presenta también nuestra experiencia de 12 años con otros 4 casos de malformación de Chiari tipo II y sintomatología episódica de disfunción de tronco, con fallecimiento de los 2 casos que habían precisado ventilación mecánica.Ni la descompresión quirúrgica ni los cuidados intensivos pudieron evitar los desenlaces fatales, que se presentan de forma imprevisible e inevitable. Tal vez haya una interpretación más positiva para los casos menos graves, pues los 2 casos que no precisaron ventilación mecánica evolucionan favorablemente hasta el momento. (AU)
Subject(s)
Male , Infant , Humans , Fatal Outcome , Respiration, Artificial , Arnold-Chiari Malformation , Brain DiseasesSubject(s)
Immunoglobulins, Intravenous/therapeutic use , Stevens-Johnson Syndrome/drug therapy , Anticonvulsants/adverse effects , Child , Epilepsy/drug therapy , Female , Follow-Up Studies , Humans , Immunoglobulins, Intravenous/administration & dosage , Lamotrigine , Stevens-Johnson Syndrome/diagnosis , Stevens-Johnson Syndrome/etiology , Time Factors , Triazines/adverse effectsABSTRACT
AIM: The aim of this study was to analyze the neurological disorders in the Pediatric Intensive Care Unit (PICU) of the Hospital Infantil Miguel Servet in Zaragoza, Spain. Children admitted to the PICU between May 15, 1990 and December 1999 were studied. The information was obtained from the Neuropediatric Department's database, which includes all the children admitted to the PICU with neurological disorders. RESULTS: The study period was 9 years and 6 months. Of the 4507 children evaluated by the Neuropediatric Department, 591 were admitted to the PICU at least once, with a total of 711 admissions (32% of the 2198 admissions to the PICU). Sixty children with neurological disorders died in the PICU. The most frequent causes of admission were head injury in 212 (30%), admission following neurosurgical procedures in 127 (18%), convulsions in 110 (15%), acute encephalopathy in 72 (10%), respiratory insufficiency in 44 (6.1%) and injuries of types other than head injuries in 28% (4%). CONCLUSIONS: Neurological disorders represent a large part of the activity in our PICU. Some common disorders such as acute encephalopathy or convulsions are difficult to diagnose, given that they may be a manifestation of several neurological and non-neurological disorders. Some of the neurological disorders that require intensive care, such as head injury and several forms of acute encephalopathy, are associated with high morbidity and mortality.
Subject(s)
Intensive Care Units, Pediatric/statistics & numerical data , Nervous System Diseases/epidemiology , Adolescent , Cerebral Hemorrhage/epidemiology , Child , Female , Hospital Mortality , Hospitalization/statistics & numerical data , Humans , Male , Nervous System Diseases/mortality , Neurology/standards , Pediatrics/statistics & numerical data , Respiratory Insufficiency/epidemiology , Spain/epidemiology , Stroke/epidemiologyABSTRACT
OBJETIVO: El objetivo de este trabajo ha sido conocer y analizar los problemas neurológicos de la UCI Pediátríca (UCIP) del Hospital Infantil Miguel Servet de Zaragoza. De la base de datos de la sección de neuropediatría, que incluye a todos los niños ingresados en UCIP con problemas neurológicos, se han estudiado los niños ingresados en UCIP desde el 15 de mayo de 1990 hasta el 31 de diciembre de 1999. RESULTADOS: De los 4.507 niños valorados por la sección de neuropediatría durante el período de estudio de 9 años y 6 meses, 591 han ingresado al menos una vez en la UCIP, con un total de 711 ingresos (32 por ciento de los 2.198 ingresos en UCIP). Fallecieron en UCIP 60 niños con problemas neurológicos. Los motivos de ingreso más frecuentes han sido: 212 traumatismos craneoencefálicos (TCE) (30 por ciento), 127 postoperatorios neuroquirúrgicos (18 por ciento), 110 convulsiones (15 por ciento), 72 encefalopatías agudas (10 por ciento), 44 insuficiencias respiratorias (6,1 por ciento) y 28 accidentes diferentes al TCE (4 por ciento). CONCLUSIÓN: La patología neurológica representa una amplia parte de la actividad en nuestra unidad de cuidados intensivos pediátricos. Algunos problemas frecuentes como la encefalopatía aguda o las convulsiones exigen un importante esfuerzo diagnóstico, puesto que pueden ser manifestación de diversos problemas neurológicos y extraneurológicos. Algunos de los problemas neurológicos que requieren cuidados intensivos, como los traumatismos craneoencefálicos y diversas encefalopatías agudas, asocian elevadas morbilidad y mortalidad (AU)
