Unidad de Endocrinología Pediátrica y Diabetes del Hospital Infantil Universitario Miguel Servet: de nuestro pasado, presente y futuro / Pediatric endocrinology and diabetes unit of the Hospital Infantil Universitario Miguel Servet: our past, present and future

La endocrinología pediátrica es un área específica de la pediatría en constante evolución que ha experimentado un gran desarrollo en los últimos 30 años. En este trabajo se presenta el desarrollo de la Unidad de Endocrinología Pediatrica y Diabetes del Hospital Infantil Miguel Servet de Zaragoza desde su creación en 1978. La Unidad realiza una importante labor asistencial, docente y de investigación clínica, tanto en el campo de la endocrinología como de la diabetes y la cartera de servicios incluye los trastornos endocrinos desde la edad fetal hasta la adolescencia. La Unidad ha tenido una especial dedicación al crecimiento normal y patológico, elaboración de estándares de referencia y a la detección precoz de las endocrinopatías infantiles, actuando como centro de referencia en el cribado neonatal (AU)

Pediatric endocrinology is a specific pediatric subespeciality in permanent evolution that has experienced a tremendous development in the last 30 years. In this article the evolution of the Pediatric Endocrinology and Diabetes Unit of the Children’s Hospital Miguel Servet is presented since it was created in 1978. The Unit displays an important medical activity in terms of assistance, teaching and clinical research, both in the field of endocrinology and diabetes, and it attends all endocrinopathies since fetal period until adolescence. The Unit has been specially focused on normal and abnormal growth and development, elaboration of growth standards and early detection of pediatric endocrinopathies being a center of reference in neonatal screening (AU)

Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación / Autosomal dominant osteopetrosis: A presentation of 3 cases and a new gene mutation

La osteopetrosis (OP) es una rara enfermedad ósea congénita producida por una alteración funcional en los osteoclastos con incapacidad para la reabsorción ósea normal, produciéndose un aumento de la densidad mineral ósea y esclerosis ósea. Puede clasificarse en autosómica recesiva (OPTB) o autosómica dominante (OPTA1-2). Existe una gran variabilidad clínica de la enfermedad, desde asintomática a letal en los primeros meses de vida, con expresividad variable en los miembros de una familia. Su diagnóstico es principalmente clínico con confirmación genética, y el tratamiento es sintomático. Se presentan una serie de casos de OP, con el hallazgo de una nueva mutación en el gen LRP5 causante de OPTA1 en uno de ellos

Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There is a wide clinical variability of the disease, from asymptomatic to lethal in the first months of life, with variable expressivity in the family members. Diagnosis is mainly clinical with genetic confirmation of the OP, and treatment is symptomatic. Three cases of OP are presented, with the discovery of a new gene mutation in LRP5 which caused OPTA1 in one of them

Síndrome poliglandular autoinmune tipo 1 y mutación C322fsX372 / Type i polyglandular autoimmune syndrome associated with C322fsx372 mutation

Los síndromes poliglandulares autoinmunes son raras endocrinopatías en las que coexisten alteraciones de las glándulas endocrinas, basadas en mecanismos autoinmunes con otras enfermedades no endocrinas. En el tipo 1, las manifestaciones características son la candidiasis mucocutánea crónica, el hipoparatiroidismo y la insuficiencia suprarrenal. Presentamos a una paciente que presenta la secuencia clínica típica, junto con otras alteraciones, realizando estudio genético del gen autoimmune regulator (AIRE), detectándose una mutación en homocigosis, C322fsX372. La herencia es autonómica recesiva, asociada a mutaciones en el gen AIRE, el cual codifica una protei′na que interviene en procesos de autoinmunidad e inmunodeficiencia. Para el diagnóstico, se requieren al menos 2 de las 3 manifestaciones clínicas principales, aunque en el estudio de familiares de pacientes afectados solo se requiere una de ellas. Estos síndromes deben ser diagnosticados en etapas tempranas, dada su alta morbimortalidad. Es necesario tratar cada una de las alteraciones, con el objetivo de preservar la calidad de vida

Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE)

[Type 1 polyglandular autoimmune syndrome associated with C322fsx372 mutation]. / Síndrome poliglandular autoinmune tipo 1 y mutación C322fsX372.

Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Inheritance is autosomal recessive, associated with mutations in the AIRE gene, which encodes a protein involved in autoimmunity and immunodeficiency. For diagnosis, At least two of the three major clinical manifestations are required for a diagnosis. However, only one of them is necessary in the study of relatives of affected patients. These syndromes must be diagnosed early, given their high morbidity and mortality. Every manifestation needs to be treated, in order to maintain the quality of life.

[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation]. / Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación.

Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There is a wide clinical variability of the disease, from asymptomatic to lethal in the first months of life, with variable expressivity in the family members. Diagnosis is mainly clinical with genetic confirmation of the OP, and treatment is symptomatic. Three cases of OP are presented, with the discovery of a new gene mutation in LRP5 which caused OPTA1 in one of them.

Coxalgia bilateral en una niña con síndrome de Down / Bilateral coxalgia in a girl with Dow syndrome

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[Torticollis as a cause of consultation in neuropediatrics]. / Tortícolis como motivo de consulta en neuropediatría.

INTRODUCTION AND OBJECTIVE: Torticollis is a very non-specific symptom occurring in different conditions and may therefore be the reason for consultation in many specialties including neuropaediatrics. Analysis of torticollis as a cause for consultation in neuropaediatrics may contribute to the establishment of a suitable strategy for diagnosis. PATIENTS AND METHODS: We review, from the diagnostic point of view, the clinical histories of cases in which the reasons for consultation included torticollis. These cases were included in the database of all the patients assessed by the neuropaediatric department of the Hospital Miguel Servet in Zaragoza between May 1990 and February 1999. RESULTS: Of the 4,138 new patients evaluated during the period studied, in 60 patients torticollis was either the sole symptom or was one of the symptoms leading to consultation. The diagnoses established were: 30 congenital torticollis (50%), 6 secondary to space-occupying intracranial lesions (10%), 5 benign paroxystic torticollis (8.3%), 4 post-traumatic, 3 secondary to ocular disorders, 3 Sandifer syndrome, 1 focal dystonia of the neck, 1 secondary to a submandibular adeno-phlegmon, 1 secondary to an epidural hematoma of the cervical spine, 1 to encephalomyelitis and 1 to spondylodiscitis, with 4 cases unclassified. CONCLUSIONS: The clinical history, physical examination and follow-up of the course of the disorder orientate or permit the diagnosis to be established in many cases of torticollis. The indications for complementary investigations, particularly neuroimaging, should be considered individually in each case.

[Hemimegalencephaly and pathological left handedness. A case report]. / Hemimegalencefalia y zurdería manual patológica. A propósito de un caso.

INTRODUCTION: Hemimegalencephaly is a disorder of neurone proliferation and migration, associated with excessive growth of all or part of one cerebral hemisphere, and variable degrees of pachygyria, polymicrogyria, neuronal heterotopy and gliosis of white matter. It is considered to be a rare malformation with severe encephalopathy, epilepsy resistant to treatment started early, contralateral hemiparesia and severe retardation of development. However, there may also be milder forms. The syndrome of pathological left handedness is associated with disorders of language, visuo-spatial changes and weakness and hypertrophy of the right limbs, with no family history of left handedness. It occurs in lesions predominantly of the left hemisphere which have occurred in the first six years of life. CLINICAL CASE: A 12 year old girl presented with a syndrome of pathological left-handedness and craniofacial asymmetry of the left hemisphere. MR showed the left ventricle and hemisphere to be of increased size and with focal hyperintensity in the white matter, and at the level of the left parietotemporoccipital region there was a thick cortex with little interdigitation of white and grey matter. CONCLUSIONS: Minor forms of hemimegalencephaly are probably more frequent than is generally believed. A high index of suspicion is necessary to identify them. They should be considered in cases of left handedness, craniofacial or bodily asymmetry, cutaneous hamartomas, persistent electroencephalographic asymmetry and asymmetry on neuroimaging with an enlarged ventricle and homolateral hemisphere. Study of this may give information which is useful for understanding plasticity and mechanisms of recovery and functional compensation of immature nerve tissue.

[Benign rheumatoid nodules. Report of 4 cases]. / Nódulos reumatoides benignos. Presentación de cuatro casos.

Benign rheumatoid nodules are subcutaneous nodules morphologically and histologically identical to the ones appearing in patients with rheumatoid arthritis. They usually happen in healthy people without neither clinical nor serologic manifestations of any rheumatic illness. These nodules are more usual in children and they are considered exceptional beyond the age of eighteen. In the literature, only two hundred cases in children and twenty five cases in adults have been properly documented, with histological confirmation. We report four new cases of benign rheumatoid nodules histologically proved, two children and two adults, and we confirm the optimistic prognosis of these patients.