[Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]. / Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares.

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure. There is no specific treatment and, to a variable degree, patients with this disease present ocular abnormalities. The illness is due to a defect in the reabsorption of magnesium and calcium at the thick ascending limb of Henle because of a mutation of the PCLN-1 gene, which encodes a protein, paracellin-1, which intervenes in the reabsorption of both cations. OBJECTIVE: To review outcome and the incidence of ocular abnormalities in our patients and in cases described in Spain and to compare the incidence found with that in groups from other countries. METHOD: Retrospective study of a group of patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis diagnosed at a hospital. RESULTS: There were six girls and three boys with clinical symptoms of polyuria, polydipsia, and less frequently, urinary tract infections and lithiasis. All had hypomagnesemia, hypercalciuria and nephrocalcinosis. Five of the patients had renal failure at diagnosis and four underwent transplantation without recurrence. Eight patients had diverse ocular abnormalities. Eighty-one percent of Spanish patients had ocular abnormalities compared with 24 % of those from other countries. There was no evidence of successful medical treatment. CONCLUSIONS: Almost half of the patients presented chronic renal failure at diagnosis and most of the patients reached end-stage renal failure in the second or third decade of life. Normal glomerular filtration rate was found only in patients diagnosed at an early age. The most frequent extra-renal association in Spanish patients (81 %) corresponded to ocular abnormalities. Effective treatment consists of kidney transplantation that completely corrects the tubular disorder.

Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares / Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities

Antecedentes: La hipomagnesemia familiar con hipercalciuria y nefrocalcinosis es una enfermedad rara que sin tratamiento específico suele conducir a insuficiencia renal terminal y que en grado variable presenta alteraciones oculares. La enfermedad se debe a un defecto en la reabsorción de magnesio y calcio en el segmento grueso de la rama ascendente del asa de Henle debido a una mutación del gen PCLN1, que codifica una proteína, la paracelina-1, que interviene en la reabsorción de ambos cationes. Objetivo: Revisar la evolución clínica de nuestros pacientes y la incidencia de anomalías oculares en nuestros casos y en los casos descritos procedentes de España, comparándola con grupos de otros países. Método: Estudio retrospectivo de un grupo de pacientes con esta enfermedad diagnosticados en un hospital. Resultados: Se presentan 6 niñas y 3 niños con síntomas de poliuria, polidipsia y en menor frecuencia infección del tracto urinario y litiasis. Todos tenían hipomagnesemia, hipercalciuria y nefrocalcinosis. Cinco presentaban insuficiencia renal al ser diagnosticados y cuatro fueron trasplantados sin presentar recidiva de su enfermedad. Ocho presentaban anomalías oculares diversas. El 81 por ciento de los pacientes españoles presentaron anomalías oculares frente al 24 por ciento de otros países. No existe evidencia de tratamiento eficaz. Conclusiones: Casi la mitad de los casos presentaron insuficiencia renal crónica en el momento del diagnóstico y la mayoría de los pacientes alcanzan la insuficiencia renal terminal en la segunda o tercera década de la vida. Sólo los casos de diagnóstico en edades tempranas tenían un filtrado glomerular normal. La asociación extrarrenal más frecuente en pacientes españoles (81 por ciento) corresponde a alteraciones oculares. El tratamiento efectivo es el trasplante renal, que corrige completamente el trastorno tubular. (AU)

Miocardiopatía dilatada neonatal: a propósito de un caso / Neonatal dilated cardiomyopathy: a case report

Se comunica un nuevo caso de miocardiopatía dilatada neonatal en una recién nacida que, a las pocas horas del parto, comenzó con un cuadro de insuficiencia cardiaca congestiva (ICC) con tendencia al colapso cardiovascular. Las ecocardiografías 2D y Doppler demostraron una función del ventrículo izquierdo muy deprimida, con una fracción de acortamiento del 12 por ciento y una fracción de eyección del 27 por ciento. No se pudo determinar la etiología de la alteración, aunque no se descartó una base génica o familiar. La paciente, que reunía criterios de mal pronóstico evolutivo, se mantuvo con digoxina, furosemida, ácido acetilsalicílico (AIS) y enalapril en una situación de ICC crónica, falleciendo a los tres meses de vida a la espera de un trasplante cardiaco. En el presente trabajo se revisan aspectos de interés de esta afección (AU)

[Neonatal Cornelia de Lange syndrome]. / Síndrome de Cornelia de Lange neonatal.

INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.

Síndrome de Cornelia de Lange neonatal / Neonatal Cornelia de Lange syndrome

Introducción. El síndrome de Cornelia de Lange (SCL) consiste en un cuadro polimalformativo poco frecuente que presenta una amplia expresividad, de etiología todavía desconocida; la mayoría de los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Casos clínicos. Se trata de dos mujeres recién nacidas, sin antecedentes familiares de interés, con retraso de crecimiento intrauterino, nacidas por cesárea por pérdida del bienestar fetal. Ambas presentaban una hipotrofia armónica y un fenotipo clínico muy similar, en el que resaltaban las anomalías craneofaciales y facies características y las alteraciones de las extremidades. Además, su evolución confirma el diagnóstico, al comprobarse en ambas el retraso del desarrollo somático y microcefalia, así como retraso psicomotor moderado-grave y alteraciones del comportamiento. Asimismo, las dos han desarrollado complicaciones médicas características de la afección. El estudio complementario puso de manifiesto en ambas pacientes una disfunción marcada de las vías auditivas y una comunicación interauricular tipo ostium secundum. Se incluyeron precozmente en un programa de rehabilitación motora y sensorial. Conclusión. Se trata de dos observaciones de SCL, con diagnóstico neonatal, que consideramos de interés dada la importancia que tiene para el clínico el reconocimiento temprano de la afección, para el asesoramiento familiar y la ayuda médica y de desarrollo apropiada (AU)

Introduction. Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. Case reports. Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. Conclusion. We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development (AU)

[Microcephalus as the reason for visiting a regional referral neuropaediatric service]. / Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional.

INTRODUCTION: The first contact between the patient and clinician takes place when the former visits because of some health problem. PATIENTS AND METHODS: We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. RESULTS: In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. CONCLUSIONS: Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.

Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional / Microcephalus as the reason for visiting a regional referral neuropaediatric service

Introducción. El primer contacto entre paciente y médico se establece mediante la consulta de un problema. Pacientes y métodos. Se han revisado las historias clínicas de los niños valorados en el Servicio de Neuropediatría durante un período de 12 años y 9 meses, entre cuyos motivos de consulta, aislado o asociado a otros, figuraba la microcefalia. Se ha considerado la existencia o no de un perímetro cefálico por debajo del p3 y la evidencia o no de encefalopatía, y su origen prenatal, perinatal o posnatal, los diagnósticos funcionales y el diagnóstico etiológico. Resultados. De 6.257 niños, 58 (0,92 por ciento) consultaron por microcefalia. La edad media en el momento de la última consulta fue de 3,9 años. En cinco niños (8,6 por ciento) el perímetro cefálico no estaba por debajo del p3. En 20 pacientes (34,4 por ciento) no se evidenció encefalopatía, y en 38 (65,5 por ciento) sí se consideró encefalopatía, en 37 de origen prenatal: nueve genéticas, tres disruptivas y 22 sin especificar. Los diagnósticos funcionales fueron: retraso mental en 29 pacientes, parálisis cerebral infantil en 18, espectro autista en cuatro y epilepsia en cuatro. La neuroimagen ha contribuido al diagnóstico en 13 casos, el 43,3 por ciento de los que se han realizado. Conclusiones. La consulta por microcefalia, además de incluir a niños normales, comprende todo el espectro de encefalopatías prenatales, y se asocia, por orden de frecuencia, a retraso mental y a parálisis cerebral infantil. La valoración y la evolución clínica permite orientar cada caso. La neuroimagen es el examen complementario de mayor rentabilidad diagnóstica (AU)

Introduction. The first contact between the patient and clinician takes place when the former visits because of some health problem. Patients and methods. We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. Results. In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. Conclusions. Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes (AU)