Hipopituitarismo. Una causa poco frecuente de retraso psicomotor / Hypopituitarism: An uncommon cause of developmental delay

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La Unidad de Neonatología del Hospital Universitario Miguel Servet en la actualidad. Nuevos retos / Neonatology Unit of the Hospital Universitario Miguel Servet at present: new challenges

La presente revisión resume las características de la actual Unidad de Neonatología del Hospital Universitario Miguel Servet en Zaragoza. La Unidad de Neonatología es una unidad de nivel IIIB de acuerdo con la clasificación del Comité de Estandares y la Junta Directiva de la Sociedad Espñola de Neonatología de 2013, siendo la unidad neonatal de referencia de la Cornunidad Autónoma de Aragón. En una primera aproximación, se describen la misión, visión y valores, seguido de una resña estructural y de la cartera de servicios de la Unidad de Neonatología. La actividad asistencia de la Unidad de Neonatología se presenta teniendo en cuenta tanto la hospitalización neonatal como el seguimiento ambulatorio en el área de consultas externas. La actividad docente e investigadora son otros aspectos importantes a considerar en la actual Unidad de Neonatología. Finalmente se revisan los retos de la Unidad de Neonatología para los proximos afios (AU)

This review summarizes the characteristics of the current Neonatology Unit of the Universitary Hospital Miguel Servet in Zaragoza. The Neonatology Unit is a type IIIB unit according to the classification of the Standards Committee and the Board of the Spanish Society of Neonatology in 2013, being the reference neonatal unit for the Autonomous Community of Aragon. In a first approximation, the mission, vision and values are described, followed by a structural review and all the services that de Neonatology Unit provides. The health care activity of the Neonatology Unit is presented taking care of neonatal hospitalization and its subsequent follow-up out patient clinic. The teaching and investigation activity is another important aspect to consider in the current Neonatology Unit. Finally, the challenges of the Neonatology Unit for the next years are been reviewed (AU)

Unidades de Neuropediatría y Metabolismo del Hospital Universitario Miguel Servet de Zaragoza / Neuropediatrics and Metabolism Unit of the Hospital Universitario Miguel Servet of Zaragoza

El presente documento expone un resumen de la actual sistemática de trabajo de las Unidades dc Neuropediatría y Metabolismo del Hospital Universitario Miguel Servet de Zaragoza. Se dispone de herramientas de trabajo de enorme utilidad: bases de datos de neuropediatría y metabolismo, protocolos, hojas de información y consentimientos informados. A partir de dichas herramientas, se expone la actividad de las Unidades asistenciales, docentes y de investigación, incluida la actividad generada por el cribado neonatal ampliado (AU)

This document represents a summary of how the Neutopediatric and Metabolic Units work at the University Hospital Miguel Servet in Zaragoza. The extremely useful tools available today are Neuropediatric and Metabolic Data Bases, clinical protocols, parents’ and professionals’ information sheets and informed consent forms. Health-care, educational and research activity, including amplified neonatal screening, are drawn from these tools (AU)

La transferencia de neuropediatría a medicina de adultos / The transfer of neuropaediatrics to adult medicine

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[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]. / Encefalopatía con aciduria metilmalónica y homocistinuria secundaria a déficit de aporte exógeno de vitamina B12.

INTRODUCTION: A deficient supply of vitamin B12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy. CASE REPORTS: We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B12, as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal. CONCLUSIONS: Vitamin B12 deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies.

Encefalopatía con aciduria metilmalónica y homocistinuria secundaria a un déficit de aporte exógeno de vitamina B 12 / Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B 12

Introducción. El déficit de aporte de vitamina B 12 puede manifestarse precozmente en los primeros meses de vida con síntomas hematológicos y neurológicos en forma de encefalopatía progresiva. Casos clínicos. Presentamos dos pacientes con anemia megaloblástica y estancamiento pondoestatural y del perímetro craneal, con afectación neurológica. Ambos presentaban un aumento de la excreción urinaria de ácido metilmalónico, así como de la homocisteína total, con concentración sérica de vitamina B 12 muy disminuida con respecto al rango normal. Los dos recibían lactancia materna exclusivamente. El estudio de las madres reveló una anemia perniciosa asintomática. El tratamiento con hidroxicobalamina dio lugar a la recuperación clínica, con progresiva normalización del desarrollo psicomotor. Conclusión. La deficiencia de vitamina B 12 por defecto de aporte materno debe tenerse en cuenta en el diagnóstico diferencial de las encefalopatías graves potencialmente reversibles

Introduction. A deficient supply of vitamin B 12 can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy. Case reports. We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B 12 , as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal. Conclusions. Vitamin B 12 deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies

[Lumbar puncture and early neuroimaging in complex febrile seizures. Report of a case of shaken infant syndrome]. / Punción lumbar y neuroimagen precoz en las crisis febriles complejas. A proposito de un caso de síndrome de lactante sacudido.

INTRODUCTION: Febrile convulsions are one of the most frequent pathologies seen in paediatric emergencies. The diagnosis of febrile seizures is clinico evolutionary and is easily established once the acute process is overcome and a normal state is restored in the child. The differential diagnosis is established with the processes that associate fever and convulsions in children between the ages of 1 month and 6 years, many of which require specific treatment. Certain complementary examinations, essentially a blood test, lumbar puncture and neuroimaging, are needed to identify them. Shaken infant syndrome is a form of physical abuse which includes the presence of intracranial traumatic injury, retinal haemorrhage and, in general, the absence of other physical signs of traumatic injury in the child. CASE REPORT: An 8 month old infant who presented a convulsive seizure on the left side of the body which coincided with an axillary temperature of 38 C that remitted with intravenous diazepam 40 minutes after onset. An early cranial computerised tomography (CT) scan led to a diagnosis of shaken infant syndrome. DISCUSSION: This case constitutes an argument in favour of performing an early cranial CT scan in complex febrile convulsions and in prolonged or partial non provoked seizures. We highlight the risks involved in performing a lumbar puncture in the absence of suspected non complicated acute bacterial meningitis. The diagnostic usefulness of an early CT scan in diagnosing such an important problem as shaken infant syndrome must also be noted, due to the risk of repetition and its high morbidity and mortality rates.

Punción lumbar y neuroimagen precoz en las crisis febriles complejas. A propósito de un caso de síndrome de lactante sacudido / Lumbar puncture and early neuroimaging in complex febrile seizures. Report of a case of shaken infant syndrome

Introducción. Las convulsiones febriles son una de las patologías más frecuentes de las urgencias pediátricas. El diagnóstico de crisis febril es clinicoevolutivo, y se establece sin dificultad una vez superado el proceso agudo y recuperada la normalidad del niño. El diagnóstico diferencial se establece con los procesos que asocian fiebre y convulsiones en niños entre 1 mes y 6 años de edad, muchos de los cuales precisan un tratamiento específico. Para su identificación es necesaria la realización de determinados exámenes complementarios, fundamentalmente, una analítica sanguínea, punción lumbar y neuroimagen. El síndrome del lactante sacudido es una forma de maltrato físico que incluye la presencia de traumatismo intracraneal, hemorragias retinianas y, en general, la ausencia de otros signos físicos de traumatismos en el niño. Caso clínico. Lactante de 8 meses que presentó una crisis convulsiva hemicorporal izquierda que coincidía con una temperatura axilar de 38 ºC, que cedió con diacepam intravenoso a los 40 minutos del inicio. La tomografía computarizada (TAC) craneal precoz llevó al diagnóstico de síndrome del lactante sacudido. Discusión. El presente caso constituye un argumento a favor de la realización precoz de TAC craneal en las convulsiones febriles complejas y en las crisis no provocadas prolongadas o parciales. Se destacan los riesgos de la realización de punción lumbar en ausencia de sospecha de meningitis bacteriana aguda no complicada. Se destaca el valor diagnóstico de la TAC precoz en un problema tan importante de ser diagnosticado como el síndrome del lactante sacudido, debido al riesgo de repetición y su alta morbimortalidad (AU)

Introduction. Febrile convulsions are one of the most frequent pathologies seen in paediatric emergencies. The diagnosis of febrile seizures is clinico-evolutionary and is easily established once the acute process is overcome and a normal state is restored in the child. The differential diagnosis is established with the processes that associate fever and convulsions in children between the ages of 1 month and 6 years, many of which require specific treatment. Certain complementary examinations, essentially a blood test, lumbar puncture and neuroimaging, are needed to identify them. Shaken infant syndrome is a form of physical abuse which includes the presence of intracranial traumatic injury, retinal haemorrhage and, in general, the absence of other physical signs of traumatic injury in the child. Case report. An 8-month-old infant who presented a convulsive seizure on the left side of the body which coincided with an axillary temperature of 38 ºC that remitted with intravenous diazepam 40 minutes after onset. An early cranial computerised tomography (CT) scan led to a diagnosis of shaken infant syndrome. Discussion. This case constitutes an argument in favour of performing an early cranial CT scan in complex febrile convulsions and in prolonged or partial non-provoked seizures. We highlight the risks involved in performing a lumbar puncture in the absence of suspected non-complicated acute bacterial meningitis. The diagnostic usefulness of an early CT scan in diagnosing such an important problem as shaken infant syndrome must also be noted, due to the risk of repetition and its high morbidity and mortality rates (AU)

[Cases of symptomatic epilepsy at a regional reference neuropediatric unit]. / Casuística de epilepsia sintomática en una unidad de neuropediatría de referencia regional.

OBJECTIVE: The objective of this study was to analyze, from an aetiological angle, the cases seen with symptomatic epilepsy by the Seccion de Neuropaediatria del Hospital Miguel Servet de Zaragoza. PATIENTS AND METHODS: We studied the cases diagnosed as having symptomatic epilepsy between May 1990 and November 1999. RESULTS: Of a total of 4,466 children assessed during the study period, the diagnosis of epilepsy was established in 461 children (10.3% of the total). This included idiopathic epilepsy in 110 cases (23.9%), cryptogenic epilepsy in 119 cases (25.8%) and symptomatic epilepsy in 232 cases (50.3%). The aetiologies of the symptomatic epilepsies were: prenatal encephalopathies in 137 cases (59%), perinatal encephalopathies in 33 (14.3%), postnatal encephalopathies (due to accidents, acquired infections and postnatal cerebrovascular accidents) in 20 (9%), tumours ( including the post-operative period) in 14 (6%), neurocutaneous syndromes in 13 (5.6%), metabolic and degenerative disorders in 13 (5.6%) and one case of vascular malformation. CONCLUSIONS: The symptomatic epilepsies make up half the epilepsies evaluated by the department of neuropaediatrics. In 59% the cause was prenatal. Other causes of symptomatic epilepsy were also represented in the series. A detailed study of these should help us to understand and manage them better. We consider aetiological aspects to be very important in the study of epilepsy, since the aetiology is one of the most important factors in prognosis.

[McArdle's disease in a 14-year-old girl with fatigability and raised muscle enzymes]. / Enfermedad de McArdle en una niña de 14 años con fatigabilidad y elevación de las enzimas musculares.

INTRODUCTION: McArdle's disease is a disorder of muscle energy metabolism caused by a deficit of muscle phosphorylase. The typical form presents with fatigability muscle cramps and pains triggered by physical exercise. Some cases have few symptoms. We report the case of a 14 year old girl diagnosed on finding a significantly raised CPK, studied following her complaint of fatigability. CLINICAL CASE: A 14 year old girl presented with a CPK of 1,243 UI/l (normal 10-32) which had been requested in view of her fatigability. She had never had cramps, muscle pains or dark urine. Neurological examination was normal. The levels of CPK after intense exercise on the previous days were 7,459 UI/l, and after rest for one week were 283 UI/l (normal 25-230). The ischemic exercise test showed that she was unable to finish the test, with flat lactate and pyruvate curves and markedly raised ammonia (basal 89 and maximum 571 micrograms/dl). On muscle biopsy, the morphology of the striated muscle was seen to be normal and staining for myophosphorylase was negative. CONCLUSIONS: The fluctuations of muscle enzyme levels in relation to exercise orientate the diagnosis towards a disorder of muscle energy metabolism. To detect this, the investigation should be carried out following severe exercise for several days and then compared with a further test after some days of rest. The ischemic exercise test permits identification of defects of glycogenolysis, orientating the choice of suitable histochemical, enzymatic or molecular biological tests.

Enfermedad de McArdle en una niña de 14 años con fatigabilidad y elevación de las enzimas musculares / McArdle's disease in a 14 year old girl with fatigability and raised muscle enzymes

Introducción. La enfermedad de McArdle es un trastorno del metabolismo energético muscular producido por un déficit de fosforilasa muscular. La forma típica se manifiesta por fatigabilidad, calambres y dolores musculares desencadenados por el ejercicio físico; existen casos poco sintomáticos. Presentamos el caso de una niña de 14 años diagnosticada a partir de una significativa elevación de creatinfosfocinasa (CPK), detectada en analítica realizada por fatigabilidad. Caso clínico. Niña de 14 años que presenta una cifra de CPK de 1.243 UI/l (normal: 10-132) solicitada por fatigabilidad. Nunca ha presentado calambres, dolores musculares ni orinas oscuras. La exploración neurológica es normal. Los valores de CPK tras ejercicio intenso los días previos fueron de 7.459 UI/l y, tras una semana de reposo, de 283 UI/l (normal: 25-230). El test de isquemia más esfuerzo reveló incapacidad de finalizar la prueba, con curva plana de láctico y pirúvico y marcada elevación del amonio (basal 89 y máximo 571 µg/dl). En cuanto a la biopsia muscular, el estudio morfológico del músculo estriado fue normal y la tinción de miofosforilasa, negativa. Conclusiones. Las oscilaciones de las enzimas musculares en relación con el ejercicio orientan hacia los trastornos del metabolismo energético muscular. Para su detección, es conveniente la determinación después de haber realizado ejercicio intenso durante los días previos, y su comprobación tras unos días de reposo. El test de isquemia más esfuerzo permite identificar los defectos de la glucogenólisis, y así orientar las técnicas histoquímicas, enzimáticas o de biología molecular que establecen el diagnóstico (AU)