Evolución del hamartoma fibrolipomatoso precalcáneo congénito / Outcome of the precalcaneal congenital fibrolipomatous hamartoma

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Glucogenosis tipo Ib / Type Ib glycogenosis

Las glucogenosis tipo Ib son enfermedades infrecuentes; representan solo el 10-20% de las glucogenosis I, cuya incidencia en Europa es de 1 caso por 100.000 recién nacidos. Presentamos el caso de un lactante afecto de glucogenosis Ib que debutó con cuadro séptico. Sometido a tratamiento diario con factor estimulante de las colonias de granulocitos y a tratamiento dietético, evoluciona con infecciones respiratorias de repetición, aceptable control metabólico y crecimiento y desarrollo psicomotor adecuados (AU)

The glycogen storage diseases type Ib are uncommon diseases; representing only 10-20% of glycogenosis I, whose incidence in Europe is 1 case per 100,000 newborns. We report the case of an infant with glycogenosis Ib who presented with a sepsis. Subjected to daily treatment with granulocyte colony-stimulating factor and dietary treatment evolves with recurrent respiratory infections, acceptable metabolic control and appropriate growth and psycho-motor development (AU)

[Alice in Wonderland syndrome as persistent aura of migraine and migraine disease starting]. / Sindrome de Alicia en el Pais de las Maravillas como aura persistente de migrana e inicio de enfermedad migranosa.

INTRODUCTION: Migraine with aura in children is often described, but communications of typical aura without headache are rare, and persistent aura and Alice in Wonderland syndrome are exceptional. CASE REPORT: A 8 years-old girl who experiences during a month one to three brief episodes a day during which she relates: 'I saw things as little and remote, sometimes they moved; one day I saw my sister's books turning bigger, and another day my father getting little as a doll; sometimes my doll's leg swinged, or the blind in the window got up and down'. Later these attacks spaced out to one each to days for another two weeks. With no previous episodes of headache, these start two days after the visual distortions disappeared, with clinical features of migraine without aura. There were antecedents of migraine in maternal line, and no previous trauma, epilepsy, drug ingestion or psychiatric disorders. Clinical examination, cranial RMI, and EEG were normal. CONCLUSION: Although Alice in Wonderland syndrome was described as a migraine aura, it is usually brief, and it is exceptional that it lasts longer than a week. We think this is the first description in a pediatric patient.

Síndrome de Alicia en el País de las Maravillas como aura persistente de migraña e inicio de enfermedad migrañosa / Alice in wonderland syndroem as persistent aura of migraine and migraine disease starting

Introducción. La migraña con aura en niños se describe frecuentemente, pero las comunicaciones de aura típica sin cefalea son inhabituales y es excepcional el aura persistente y el aura como síndrome de Alicia en el País de las Maravillas. Caso clínico. Niña de 8 años de edad que experimenta durante un mes, de uno a tres episodios diarios y breves durante los cuales, según relata, ‘veía las cosas pequeñas y lejanas, a veces se movían; un día vi cómo los libros de mi hermana se volvían más grandes y otro día vi cómo mi padre se hacía tan pequeño como un muñeco; a veces la pierna de mi muñeca se balanceaba, o la persiana de una ventana subía y bajaba una y otra vez’. Posteriormente, estos ataques se espaciaron en días alternos durante otras dos semanas. Sin antecedentes previos de cefaleas, éstas se inician a los dos días de desaparecer las distorsiones visuales, con características de migraña sin aura. Conclusiones. Aunque el síndrome de Alicia en el País de las Maravillas ha sido descrito como aura de migraña, su duración es habitualmente breve, y su persistencia es excepcional cuando dura más de una semana. Creemos que éste es el primer caso descrito en un paciente pediátrico (AU)

Introduction. Migraine with aura in children is often described, but communications of typical aura without headache are rare, and persistent aura and Alice in Wonderland syndrome are exceptional. Case report. A 8 years-old girl who experiences during a month one to three brief episodes a day during which she relates: ‘I saw things as little and remote, sometimes they moved; one day I saw my sister’s books turning bigger, and another day my father getting little as a doll; sometimes my doll’s leg swinged, or the blind in the window got up and down’. Later these attacks spaced out to one each to days for another two weeks. With no previous episodes of headache, these start two days after the visual distortions disappeared, with clinical features of migraine without aura. There were antecedents of migraine in maternal line, and no previous trauma, epilepsy, drug ingestion or psychiatric disorders. Clinical examination, cranial RMI, and EEG were normal. Conclusion. Although Alice in Wonderland syndrome was described as a migraine aura, it is usually brief, and it is exceptional that it lasts longer than a week. We think this is the first description in a pediatric patient (AU)

Prueba de tuberculina en el control de salud. Importancia para diagnóstico de infección tuberculosa latente y/o tuberculosis pulmonar. Centro de Salud A Ponte / Tuberculin test in health control. Importance for the diagnosis of latent tuberculosis infection and/or pulmonary tuberculosis. Health Center A Ponte

Objetivos: Valorar la importancia de la prueba de tuberculina en el control de salud, para el diagnóstico de infección tuberculosa latente y tuberculosis pulmonar. Pacientes y métodos: Estudio retrospectivo de una cohorte de niños tuberculín-positivo, del Centro de Salud A Ponte. (Ourense). Resultados: Estudiamos a 52 niños con prueba de tuberculina positiva,; 14 menores de 5 años y 38 entre 5-15 años. Se diagnosticaron 46 infecciones tuberculosas latentes y 6 tuberculosis pulmonares. En el 69,5% (32) de las infecciones tuberculosas latentes el motivo de estudio fue control de salud y en 10 (21,7%) estudio de contactos. En los 6 niños con diagnóstico de tuberculosis pulmonar, el estudio se realizó en 3 por control de salud y en 2 por estudio de contactos. El 75,6% de los niños menores de 5 años resultaron infecciones tuberculosas latentes y el 21,4$ tuberculosis pulmonares; sin embargo, en el grupo de 5-15 años, el 92,1% fueron infecciones tuberculosas latentes, y 3 (7,9%) tuberculosis pulmonares. Conclusiones: La prueba de tuberculina realizada en el control del niño sano resultó una herramienta básica en el diagnóstico de infección tuberculosa latente y tuberculosis pulmonar en el Centro de Salud A. Ponte. Diagnosticó el 69,5% de las infecciones tuberculosas latentes y el 50% de las tuberculosis pulmonares de los niños estudiados (AU)

Objectives: To determine the importance of the tuberculin skin test in routine health checks on the diagnosis of the latent tuberculosis infection and pulmonary tuberculosis. Patients and methods: Retrospective study of at tuberculin positive children cohort, form the Primary Attention Center A. Ponte (Orense). Results: We have studied 52 children with a positive tuberculin skin test; 14 less than 5 years old and 38 between 5 and 15 years old. 46 latent tuberculosis infections and 6 pulmonary tuberculosis were diagnosed. In 32 (69,5%) of the latent tuberculosis infections the indication was a routine health check and in 10 (21.7%) the study of contact subjects. Of the 6 children with pulmonary tuberculosis diagnosis, 3 were studied in a routine health check and 2 for a contact study. 75,6% of children less than five years old were diagnosed of latent tuberculosis; however, in the 5 to 15 years old group, 92,1% were latent tuberculosis infections and 3 (7,9%) were pulmonary tuberculosis. Conclusions: The tuberculin skin test undertaken in the children routine health check resulted in a basic tool in the diagnosis of latent tuberculosis infection and pulmonary tuberculosis in the Primary Attention Center A Ponte (Ourense). It has diagnosed 69.5% of latent tuberculosis infection and 50% of pulmonary tuberculosis (AU)

[Ichthyosis, epileptic crises and infantilism: 4 cases of Rud syndrome]. / Ictiosis, crisis epilécticas e infantilismo: cuatro casos de síndrome de Rud.

Four boys with common ichthyosis, generalized epileptic fits and probable hypogonadotropic hypogonadism are expounded upon. They are diagnosed as having the Rud syndrome. Under the neurological aspect, the absence of risk to develop posterior epilepsy as a feature of the syndrome, with the exception of the one suggested by the symptomatology of the fits and/or alterations of the EEG is noteworthy in our patients. The intellectual quotient (Weschller children's test) in found to be within normal limits. We have observed the coincidence of the Lennox syndrome of the most serious cutaneous type with the worst evolution. The gonadotropins did not respond to the stimulus with their hypothalamic hormone and we recommend an endocrinologic study of these boys at the puberal age, for the purpose of establishing, if necessary, treatment for their gonadal deficit.