[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. / Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.

INTRODUCTION: McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec-tro-myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon 'second wind' in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS: The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.

TITLE: Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.Introducción. La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos. Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados. En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones. El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.

Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio / McArdle’s disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

Introducción: La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos: Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados: En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones: El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.(AU)

INTRODUCTION: McArdle’s disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec­tro­myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon ‘second wind’ in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS:The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.(AU)

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases]. / Aminoacidos en liquido cefalorraquideo y plasma: utilidad en el estudio de las enfermedades neuropediatricas.

INTRODUCTION: Studying the amino acids in cerebrospinal fluid (CSF) is essential in the diagnosis of some neurological diseases and is an important aid in the diagnosis of others. No research has been published in the literature to prove the physiological relationship between the values of amino acids in CSF and plasma in the paediatric population. AIM: To define a set of ratios for amino acids in plasma and CSF in the paediatric population that can be used in daily clinical practice. PATIENTS AND METHODS: The aminograms in plasma and CSF of 105 patients with ages between 0 and 12 months were collected and analysed retrospectively. Aminograms with amino acid values that are considered to be normal according to the reference values of our laboratory were included in the sample. The quantitative analysis of amino acids was performed using high-resolution liquid chromatography and statistical analysis with the software application SPSS 19.0. RESULTS: The mean values, range and standard deviation of the amino acid concentrations in plasma and CSF, together with the CSF/plasma ratios, are reported. Significant correlations were found from 0.6 onwards between different neutral amino acids, above all in those with smaller molecular weights (Thr, Ser, Gly and Ala). CONCLUSIONS: The existence of significant correlations between the different neutral amino acids supports the idea that they share the same transporters in the blood-brain barrier. Standardising the amino acid ratios will make it possible to increase sensitivity in the detection of pathological values in plasma and CSF, to further knowledge of the pathophysiology of neurological diseases and perhaps to describe new aminoacidopathies.

[Guillain-Barre syndrome in the paediatric age: epidemiological, clinical and therapeutic profile in a hospital in El Salvador]. / Síndrome de Guillain-Barré en edad pediátrica. Perfil epidemiológico, clínico y terapéutico en un hospital de El Salvador.

INTRODUCTION: Guillain-Barre syndrome (GBS) is an acute polyradiculoneuropathy with, in most cases, an autoimmune aetiology. It manifests as a flaccid motor paralysis, of a distal ascending type, accompanied by areflexia with or without sensory alterations. AIM: To determine the clinical and therapeutic epidemiological profile of patients diagnosed as suffering from GBS who were attended at the Benjamin Bloom Children's Hospital in El Salvador, between 1st January 1997 and 31st December 2004. PATIENTS AND METHODS: We performed an observation-based, descriptive, cross-sectional study that included 414 cases. The following data were evaluated: age distribution, sex, age, history of infections, clinical manifestations, results of the lumbar puncture, electrophysiological studies and treatment that was received. RESULTS: A predominance of males was observed, together with a more frequent presentation in school-age children. The number of cases increased in the third quarter of each of the years included in the study. The most prevalent event in the history of infections was acute respiratory infection. And the most frequent clinical presentation was ascending weakness. Albuminocytological dissociation was detected in 88% of patients who had undergone lumbar puncture. Acute inflammatory demyelinating polyneuropathy predominated in 88.3% of cases. Sixty per cent of patients had to be admitted to the intensive care unit. In most cases treatment consisted in intravenous administration of immunoglobulin. Complications occurred in 30.5% of cases and the mortality rate was 2.9%. CONCLUSIONS: GBS occurs predominantly in the rainiest season of the year, which is related to an increase in the number of infections in the upper respiratory tract and gastroenteric infections that give rise to a predisposition to present secular outbreaks of the disease.

[Clinical characteristics and progress of patients with migrainous headaches monitored in the Headache Unit in a paediatric referral hospital]. / Características clínicas y evolución de los pacientescon cefalea migrañosa seguidos en la Unidad deCefaleas de un hospital pediátrico de referencia.

AIM: To analyse the clinical characteristics and course of migraine patients who were attended in the Headache Unit of a paediatric referral hospital. PATIENTS AND METHODS: We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. RESULTS: There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. CONCLUSIONS: Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient's presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects.