Embriopatía por fenilcetonuria materna: una causa de retraso mental / Embryopathy due to maternal phenylketonuria: a cause of mental retardation

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Piomiositis paravertebral infantil en relación con traumatismo cerrado / Paravertebral pyomyositis in childhood following closed injury

La piomiositis es una infección aguda bacteriana que afecta al músculo estriado y que generalmente se acompaña de la formación de un absceso. El microorganismo implicado en la mayoría de los casos es Staphylococcus aureus. La clínica se caracteriza por dolor, tumefacción y edema muscular, junto con sintomatología general variable. Sus complicaciones incluyen artritis, osteomielitis e incluso shock séptico con una mortalidad del 1,8%. Se presenta el caso de una escolar de 8 años de edad que tras presentar un traumatismo lumbar cerrado al golpearse en la espalda mientras jugaba en una cama elástica, desarrolló una piomiositis paravertebral. El cuadro se complicó con una sepsis. En el hemocultivo se aisló S. aureus. Secundariamente, se desarrolló un absceso perivertebral y, finalmente, una osteomielitis por contigüidad en la apófisis espinosa de la tercera vértebra lumbar. La paciente recibió tratamiento con vancomicina y metronidazol durante 6 semanas y 2 semanas más con cloxacilina hasta completar un total de 8 semanas de tratamiento antibiótico intravenoso. La exploración física a los 3 meses del alta era normal. Es importante tener presente la posibilidad de una piomiositis, especialmente en los pacientes en edad infantil con fiebre, dolor muscular localizado y antecedente traumático accidental o deportivo, y su diagnóstico y tratamiento precoces son convenientes para disminuir el riesgo de complicaciones que pueden llegar a ser mortales(AU)

Pyomyositis is an acute bacterial infection that affects striated muscle and is generally accompanied by the formation of an abscess. In most cases, the microorganism involved is Staphylococcus aureus. Clinical findings are characterized by pain, swelling and muscular edema, together with variable general symptoms. Complications include arthritis, osteomyelitis and even septic shock with a mortality of 1.8%. We report the case of an 8-year-old boy who sustained a closed lumbar injury on banging his shoulder while he was playing on a trampoline and who developed paravertebral pyomyositis complicated by sepsis. S. aureus was isolated in the blood culture. The boy subsequently developed a perivertebral abscess and finally contiguous osteomyelitis in the L3 spinous process. The patient received treatment with vancomycin and metronidazole for 6 weeks followed by cloxacillin therapy for 2 weeks (a total of 8 weeks of intravenous antibiotic therapy). Physical examination 3 months after discharge revealed no abnormalities. The possibility of pyomyositis should be borne in mind, especially in children with fever, localized muscular pain and a history of accidental or sports injuries. Early diagnosis and treatment are important to reduce the risk of possibly fatal complications(AU)

[Paravertebral pyomyositis in childhood following closed injury]. / Piomiositis paravertebral infantil en relación con traumatismo cerrado.

Pyomyositis is an acute bacterial infection that affects striated muscle and is generally accompanied by the formation of an abscess. In most cases, the microorganism involved is Staphylococcus aureus. Clinical findings are characterized by pain, swelling and muscular edema, together with variable general symptoms. Complications include arthritis, osteomyelitis and even septic shock with a mortality of 1.8%. We report the case of an 8-year-old boy who sustained a closed lumbar injury on banging his shoulder while he was playing on a trampoline and who developed paravertebral pyomyositis complicated by sepsis. S. aureus was isolated in the blood culture. The boy subsequently developed a perivertebral abscess and finally contiguous osteomyelitis in the L3 spinous process. The patient received treatment with vancomycin and metronidazole for 6 weeks followed by cloxacillin therapy for 2 weeks (a total of 8 weeks of intravenous antibiotic therapy). Physical examination 3 months after discharge revealed no abnormalities. The possibility of pyomyositis should be borne in mind, especially in children with fever, localized muscular pain and a history of accidental or sports injuries. Early diagnosis and treatment are important to reduce the risk of possibly fatal complications.

Hipotonía y letargia: manifestaciones iniciales de un nuevo caso de galactosemia / Hypotonia and lethargy: initial manifestations of a new case of galactosemia

Introducción. La galactosemia es una enfermedad metabólica de herencia autosómica recesiva, en la que existe un déficit enzimático que impide metabolizar la galactosa. Son tres las enzimas que podrían estar implicadas, pero el defecto de la galactosa1-fosfato-uridiltransferasa (GALT) es el más frecuente. La incidencia es de dos casos por cada 100.000 recién nacidos. Como consecuencia de este defecto enzimático, el neonato presentará al ingerir leche un deterioro neurológico progresivo, cataratas y alteraciones en el aparato digestivo y renal. Es fundamental un diagnóstico precoz para retirar de inmediato la galactosa de la dieta, lo que implica en el recién nacido suspender la lactancia materna y alimentarle con una leche de fórmula sin galactosa. Caso clínico. Recién nacido de sexo femenino, hija de padres consanguíneos (primos en segundo grado) y de etnia gitana, diagnosticada de galactosemia con déficit total de GALT. Los primeros diez días de vida recibió leche de fórmula normal y presentó hipotonía, letargia, ictericia, hepatomegalia, rechazo de la alimentación, escasa ganancia ponderal e infección urinaria por bacteria gramnegativa. Tras conocer el diagnóstico se retiró la galactosa de la dieta (se ofreció leche de soja) y se normalizó de forma progresiva la exploración física. Conclusión. Se trata de una patología extremadamente infrecuente, pero de cuyo diagnóstico y tratamiento precoz depende en gran mediada el futuro del paciente (AU)

Introduction. Galactosemia is a metabolic disease that is transmitted by autosomal recessive inheritance in which there is an enzymatic deficit that prevents the metabolism of galactose. Three enzymes could be involved, but the lack of galactose-1-phosphate uridyltransferase (GALT) is the most frequent. Incidence is two cases per 100 000 newborn infants. As a consequence of this enzymatic deficit, on ingesting milk the newborn infant will present a progressive neurological deterioration, cataracts and digestive tract and kidney disorders. An early diagnosis is essential so that galactose can be withdrawn from the diet as soon as possible, which in the newborn infant means discontinuing mother’s milk and feeding with galactose-free milk. Case report. We report the case of a newborn female, the daughter of consanguineous parents (second cousins) from the gypsy ethnic group, who was diagnosed as suffering from galactosemia with a total GALT deficit. The patient was given normal milk for the first 10 days of her life and presented hypotonia, lethargy, jaundice, hepatomegaly, refusal to eat, low weight gain and a urinary infection caused by gram negative bacteria. Following diagnosis, galactose was withdrawn from the diet (she was given soy milk) and the physical exploration became progressively more normal. Conclusions. This is an extremely unusual pathology, but the patient’s outcome is largely dependent on an early diagnosis and treatment (AU)

[Hypotonia and lethargy: initial manifestations of a new case of galactosemia]. / Hipotonía y letargia: manifestaciones iniciales de un nuevo caso de galactosemia.

INTRODUCTION: Galactosemia is a metabolic disease that is transmitted by autosomal recessive inheritance in which there is an enzymatic deficit that prevents the metabolism of galactose. Three enzymes could be involved, but the lack of galactose-1-phosphate uridyltransferase (GALT) is the most frequent. Incidence is two cases per 100,000 newborn infants. As a consequence of this enzymatic deficit, on ingesting milk the newborn infant will present a progressive neurological deterioration, cataracts and digestive tract and kidney disorders. An early diagnosis is essential so that galactose can be withdrawn from the diet as soon as possible, which in the newborn infant means discontinuing mother's milk and feeding with galactose-free milk. CASE REPORT: We report the case of a newborn female, the daughter of consanguineous parents (second cousins) from the gypsy ethnic group, who was diagnosed as suffering from galactosemia with a total GALT deficit. The patient was given normal milk for the first 10 days of her life and presented hypotonia, lethargy, jaundice, hepatomegaly, refusal to eat, low weight gain and a urinary infection caused by gram negative bacteria. Following diagnosis, galactose was withdrawn from the diet (she was given soy milk) and the physical exploration became progressively more normal. CONCLUSIONS: This is an extremely unusual pathology, but the patient's outcome is largely dependent on an early diagnosis and treatment.

Anemia hemolítica autoinmune por hemolisina bifásica / Autoimmune hemolytic anemia due to biphasic hemolysin

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Análisis de los factores pronósticos de la respuesta antipirética del ibuprofeno / Analysis of prognostic factors for the antipyretic response to ibuprofen

OBJETIVO: Analizar los factores que influyen en la respuesta antitérmica del ibuprofeno. PACIENTES Y MÉTODOS: Niños de entre 1y 10años que acudieron al servicio de urgencias con temperatura superior a 38ºC. Se les administró una dosis de 7mg/kg de ibuprofeno, anotándose después la temperatura a los 30, 60, 90, 120, 180y 240min. Se analizó la influencia de la edad, sexo, peso, superficie corporal, entidad nosológica, administración previa de antitérmicos y asociación de medidas físicas sobre la evolución de la temperatura. RESULTADOS: Se estudiaron 384 niños, con temperatura corporal comprendida entre 38y 42ºC (39,1 ñ 60,6ºC), en el 77,8 por ciento la fiebre duraba más de 6h y el 59,5 por ciento habían recibido al menos un antitérmico. El 93,5 por ciento de los niños redujeron su temperatura hasta 37,5ºC o menos, alcanzándose dicha temperatura en el 80,2 por ciento de los niños entre 1y 2horas después del tratamiento. El 95 por ciento de los pacientes alcanzó un descenso de la temperatura corporal de al menos 1ºC. La temperatura inicial más alta (odds ratio[OR] 0,008; intervalo de confianza [IC] 95 por ciento, 00,14) y la mayor superficie corporal (OR, 0,004; IC 95 por ciento, 00,89) facilitan la consecución de dicho objetivo, mientras que la mayor edad la dificulta (OR, 1,67; IC 95 por ciento, 1,032,7). CONCLUSIÓN: El ibuprofeno es un fármaco muy eficaz en el tratamiento de la fiebre infantil y la magnitud de su efecto antitérmico guarda cierta relación con la edad, el grado de temperatura inicial y la superficie corporal (AU)

Diarrea sanguinolenta / Bloody diarrhea

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[Analysis of prognostic factors for the antipyretic response to ibuprofen]. / Análisis de los factores pronósticos delarespuesta antipirética del ibuprofeno.

AIM: To assess the factors influencing the antipyretic activity of ibuprofen in children. PATIENTS AND METHODS: Children aged between 1 and 10 years attending the emergency department with a temperature of> 38 degrees C were given one dose of ibuprofen (7 mg/kg). Temperature was recorded before and 30, 60, 90, 120, 180 and 240 min after ibuprofen administration. The influence of age, sex, weight, body surface, nosologic entity, previous antipyretic administration, and the association between physical measurements and temperature evolution were assessed. RESULTS: A total of 384 children were studied. Baseline temperatures were between 38 degrees C and 42 degrees C (mean: 39.1 +/- 60.6). Most of the patients (77.8%) had been feverish for more than 6 hours and 59.5% had received antipyretic treatment. In 93.5% of the children temperature was lowered to 37.5 degrees C or less. In 80.2% of the children this temperature was reached 12 hours after treatment. In 95% of ther children a decrease of at least 1 degree C was achieved. Older age (OR 1.67; 95% CI: 1.032.7), smaller body surface (OR 0.004; 95% CI 00.89) and lower baseline temperature (OR 0.008; 95%CI 00.14) were associated with a smaller antipyretic response (decrease in body temperature lower than 1 degree C). CONCLUSIONS: Ibuprofen is effective in the treatment of fever in children. Its effectiveness is related to age, the degree of fever and body surface.

[Western type cerebro-muscular dystrophy and congenital merosin deficiency muscular dystrophy: two terms for the same disorder]. / Distrofia cerebromuscular tipo occidental y distrofia muscular congénita deficiente en merosina: dos denominaciones para una misma entidad.

INTRODUCTION: Congenital muscular dystrophies (CMD) are a clinically heterogeneous group of muscular disorders characterized by hypotonia, muscle weakness and early or congenital joint contractures. Electromyography reveals a myopathic pattern, creatine-kinase (CK) may be moderately elevated and muscle biopsy shows pathological changes consistent with a dystrophic process. OBJECTIVE: Report the cases of two brothers with 'Occidental type cerebro-muscular dystrophy' versus 'merosin-deficient CMD'. PATIENTS AND METHODS: Two children, a boy and a girl, of a first consanguineous parents. In the first case, the diagnosis of Occidental type cerebro-muscular dystrophy was made in 1983, at the age of 4 years, according to clinical, biochemical, electromyographic, pathological and neuroradiological data. In the second case, the diagnosis of merosindeficient form of CMD was made with the same criteria and with immunohistochemistry and Western blot techniques in 1997, when she was 6 months old. CONCLUSION: Occidental type cerebro-muscular dystrophy, described 13 years ago by one member of our group, corresponds with merosin-deficient form of CMD.

[Meningitis due to Salmonella in the neonatal period]. / Meningitis por Salmonella en período neonatal.

INTRODUCTION: Meningitis due to Salmonella is an unusual sign of salmonellosis. Usually Salmonella causes clinical disorders of the digestive tract, but on occasions, especially in babies, may cause focalized infections such as meningitis. Although meningitis due to Salmonella is unusual, it should be remembered because of its gravity, since it has a high morbimortality. It mainly affects neonatal babies and those under 4 months of age. It usually precedes or is accompanied by gastroenteritis and has a rapid clinical course. CLINICAL CASE: We present the case of a neonatal baby girl, 17 days old, who was very irritable, had liquid or semi-liquid faeces and high fever of unknown origin with poor response to antipyretic drugs. On lumbar puncture a cloudy liquid, compatible with bacterial meningitis was obtained. Treatment was therefore started immediately with intravenous ampicillin and cefotaxima. CSF culture grew Salmonella which was resistant to ampicillin but sensitive to cefotaxima. Antibiotic treatment was given for 21 days. There was excellent clinical recovery. After eight months of follow-up no sequelae have been seen and her development, both psychomotor, in height and in weight is normal for her age. CONCLUSION: Meningitis due to Salmonella is an unusual condition. Immediate, suitable treatment is essential to obtain satisfactory recovery.

[Transdural anastomosis in a juvenile form of moyamoya disease]. / Anastomosis transdurales en una forma juvenil de enfermedad de Moya-Moya.

INTRODUCTION: Moya-Moya disease has a low prevalence and world-wide distribution, with greater incidence in the first 5 years of life (juvenile form) or in the third decade (adult form). Stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensating anastamoses at different levels (leptomeninges, basal ganglia and transdural). We present the case of a 7 year old boy who presented clinically with choreiform movements and later had a cerebral infarct. On angio-MR and MR studies we observed the typical smoky image together with development of additional compensatory transdural anastomoses from the superficial temporal and ophthalmic arteries to the anterior and middle cerebral arteries.