Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

[Munchausen syndrome by proxy]. / Síndrome de Munchausen por poderes.

Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literature.

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

[Recurrent ingestion of foreign bodies. Unusual presentation of Munchausen by Proxy syndrome]. / Ingestión reiterada de cuerpos extraños. Forma inusual de presentación del síndrome de Munchausen por poderes.

A case with unusual presentation of Munchausen syndrome by proxy is reported. It was shown through reiterated ingestion of foreign bodies (two earrings, probably a button but not confirmed, a 5 cm. screw and two sewing needles) perpetrated by a 22-year-old mother with a psychiatric record of behavior disorders and family dysfunctions on a 10-month-old infant with a history of prematurity, repeated visits to emergency rooms, and nonjustified multiple hospital admissions. The difficulties in the diagnosis and the need for an early detection are brought up, making considerations in regard to indicators, diagnostic criteria, and management procedure.

Efficiency of the anorectal manometry for the diagnosis of Hirschsprung's disease in the newborn period.

We have used a continuous perfusion probe for manometry in newborns. We carried out 95 pressure recordings in 56 patients labeled as delayed passage of meconium longer than 24 h. When the relaxation reflex of the anal canal was not present after rectal stimulation with a distensible balloon, the tests were repeated weekly up to the first month of life. Thereafter, suction biopsies were carried out to confirm the final Hirschsprung's disease (HD) diagnosis. The amplitudes of the fluctuating waves in HD subjects were higher than those in non-HD patients. Although the procedure could provide false positive results, no possibilities exist for false negative results as proved in our study. All the five cases with HD were diagnosed by our manometric procedure as well as by histochemistry. The method is advantageous and profitable for the diagnosis of HD in case of delayed passage of meconium or distal functional obstruction of the anal canal.

A second family with Micro syndrome.

We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.

[The psychoneurological status of newborn infants with congenital heart disease before surgical intervention]. / Estado psiconeurológico de los recién nacidos afectados de cardiopatía congénita antes de su intervención.

AIMS: This study was conducted to evaluate, from a psychological and neurological point of view, the situation of newborn infants (NI) suffering from congenital heart disease before they are treated surgically. At the same time, we aimed to compare this group of patients with another group of children who were considered to be healthy. PATIENTS AND METHODS: Patients psychological development was evaluated using developmental landmarks from the Observational Scale of Development (OSD), which provides a percentage of elements acquired in different areas. Behaviour was evaluated by the observational recording of particular patterns of behaviour. The neurological study was based on a detailed neonatal examination, performed by people from the Child Neurology Section at our hospital, and which took into account the different behaviours displayed by the NI: reactive, grasping, communicative and affective. RESULTS: Findings show significant differences both in the psychological and neurological variables studied. They show how, generally speaking, healthy infants score higher in the areas of development that were evaluated than children suffering from heart disease. Likewise, lower average scores were observed in heart disease patients who require an early intervention, as compared with those who will be submitted to surgery later on. From the neurological point of view, a number of significant differences were found in their muscular activity. CONCLUSIONS: This analysis, a groundbreaker in the study of infants suffering from heart disease before their surgical intervention, shows how newborn infants who have been submitted to surgery in the neonatal period present a significant degree of hypotonia, a certain frailness and retardation in their motor development.

[The paediatrician and social problems]. / El pediatra ante los problemas sociales.

We have witnessed dramatic scientific, technological and social advances in the first decade of the XXI century. New sociological realities have enforced the rights of children, the family and gender and inequalities need to be faced under the criteria of equality in a multicultural context. It is a time to boost the overall view of childhood, to put the phonendoscope on the minor and the family, to assess the complexity of facts, such as abuse from its many facets, to shorten the distance between patients, increasing our cultural competence and to critically reflect on medicalising life as a social symptom and their possible consequences for children.

[Duplex Doppler echography as a non-invasive method of evaluating cerebral blood flux, in full-term newborns, in the immediate neonatal period]. / La ecografía Doppler dúplex como método incruento de valoración del flujo sanguíneo cerebral, del recién nacido a término, en el período neonatal inmediato.

The Doppler effect and its application on the human body is described as well as its specific use in pediatric age: cerebral blood flow, liver and renal transplants, vascular-renal and portal hypertension and characterization of mass, tissue and structure. The results of 107 studies with Doppler duplex echograph on 86 neonates are analysed. The anterior and posterior cerebral arteries were sounded. The parameters taken into consideration were ten maximum systolic velocity (VS), the final diastolic velocity (VD), Bada's pulsatility index (IP) and the morphology of the curve. In 35 normal newborns the results were: maximum systolic velocity 24.08 +/- 4.30 cm/s, the final diastolic velocity 8.77 +/- 1.86 cm/s, Bada's pulsatility index. In the caesarean born neonates in both forms of anaesthesia, and those born by EVA delivery (stimulation, suction and analgesia) slight increases were observed, in comparison with the normal newborn group, in the maximum systolic velocity and Bada's pulsatility index.

Clinical variability of type II sialidosis by C808T mutation.

Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids. We present a clinical report of three patients diagnosed for type II sialidosis. The first patient is a 12-year-old boy with the classic infantile form. His sister had a congenital form of sialidosis and died at 20 months of age. The third, nonrelated patient presented shortly after 1 year of age and had borderline cognitive delay at 9 years. All three patients were homozygous for the C808T mutation of the NEU gene. Their ancestors originated from a small area to the east of the city of Seville (Spain), suggesting the existence of a Seville founder mutation.

[Dehydration in the infant. Revision of 100 cases. Epidemiologic, clinical and biochemical aspects (author's transl)]. / Deshidratación en el lactante. Revisión de 100 casos. I: Consideraciones epidemiológicas, clínicas y bioquímicas.

A retrospective study of 100 dehydrated children with ages between 0 and 18 months is presented. Ecologic, epidemiologic, clinical and biochemical aspects are revised, as the first part of a series. Relating facts to distribution according with ages and etiology in cases of bacterial diarrhea are similar to other authors. Hypertonic dehydration caused by concentrated nutrition of feeding is prominent, in tight relation with children in low socioeconomically groups. 31% of children had natremia between 150 and 160 mEq/I; and 16% over to 160 mEq/I. Hypocalcemia during rehydration was rarely observed.

[A study of cerebral blood flow in preterm newborns. The physiologic modification of diastole]. / Estudio del flujo sanguíneo cerebral en el recién nacido pretérmino. La modificación fisiológica de la diástole.

An evaluation of cerebral blood flow (CBF) was carried out with a Toshiba Sonolayers-S SSH-60 A echography in 127 infants with open major fontanelle which were divided in 3 groups: a) 69 non premature newborn, in which a physiological variation of all CBF parameters was found; b) 29 neurologically normal preterm infants, where the resistance index always was higher than in the preceding group, at the expense of a lower diastolic flow, in which for the first time the "physiological variation of diastole" independent of the gestational age is reported. This variation results in changes in the cerebral flow in the situations of exercise, rest or stress; c) 29 preterm infants with some abnormality, who also showed the physiologic variation of diastole with a poor flow quality were found.

[Smith-Lemli-Opitz syndrome. Cardiologic considerations (author's transl)]. / Síndrome de Smith-Lemli-Opitz. Consideraciones cardiológicas

A new case of the Smith-Lemli-Opitz Syndrome is reported, associated with a type of congenital cardiopathy not described previously in this syndrome.

[Desquamative interstitial pneumonia in an infant]. / Neumonía intersticial descamativa en lactante.

It is described a desquamative interstitial pneumonia diagnosed by open biopsy of the lung, in a nine-month-old infant. The disease began at about two-months-old, with underdevelopment and evolution to progressive respiratory insufficiency that finished with the exitus at nine-months-old, before the initiation of the treatment with steroid. It is commented the bad prognostic in young infants diagnosed during the first year of life, questioning the utility of separate the desquamative interstitial pneumonia of the usual interstitial pneumonia in infants less than one-year-old.

[Dehydration under one month of age. A review of 132 cases. Epidemiological, clinical and Bacteriological aspects (author's transl)]. / Deshidratación en el período neonatal. Revisión de 132 casos. Consideraciones epidemiológicas, ecológicas, clínicas y bioquímicas.

132 cases of dehydration in children under one month of age with a hight proportion of hypertonic dehydration, relating usually to a hyperconcentrated diet, are analyzed, taking into consideration ecological, epidemiological, clinical, biochemical and bacteriological aspects. Decrease in maternal lactation and social hygienic situation were principal factors. Hyperthermia and diarrhoea, were the initial symptoms requiring medical attention, in hypertonic dehydration, being of little importance the neurological manifestations of considerabble incidence and serious posterior repercussion. Important metabolic alterations and the small proportion of positive cultures in feces are evident, relating to those of other authors.

[Thoracic asphyxiant dystrophy and renal disease (author's transl)]. / Distrofia torácica asfixante y enfermedad renal

The case of two brothers with thoracic asphyxiant dystrophy, associated with cystic renal dysplasia in one of them, is reported. Differential diagnosis with other chondrodystrophies, specially with the Ellis van Creveld Syndrome is made, and the influence of the nephropathy on the vital prognosis of the affection is pointed out. The photographs show the characteristic and differential signs of this entity.

[Hypoglycemic convulsions and hypopituitarism]. / Convulsiones hipoglucémicas. Primera manifestación de un hipopituitarismo

A case of hypopituitarism in a female, aged 6 months, whose first symptom consisted of hypoglycemic convulsions is reported. Making use of TRH we confirm the hypothalamic origin of pituitary failure. Substitution therapy controlled the episodes of convulsions and normalized the growth rate of the child.

[Anatomoclinical correlations of spinal muscular atrophy in infancy]. / Correlaciones anatomoclínicas de las atrofias musculares espinales en la infancia.

Forty-three cases of infantile spinal muscular atrophy diagnosed in our department between 1977 to 1991 are presented. Following clinical-pathologic evaluation, 27 cases were included in type I, 7 in type II and 9 cases in type III. The most frequent pathologic finding was the presence of large groups of atrophic fibers and hypertrophy of isolated fibers in muscle biopsy. Enzyme study showed higher mean levels of CPK and aldolase in type I with respect to the other two. Likewise, a significant statistical difference was found in the age of onset of the different groups. Finally, the clinical classification of spinal muscular atrophies in infancy is discussed.