Vitamin D levels in a pediatric population of a primary care centre: a public health problem?

OBJECTIVE: Vitamin D deficiency is a public health problem that occurs more frequently than expected. The aim of this study is to evaluate the vitamin D levels of children attending the paediatrics unit of the Bertamiráns primary care centre (A Coruña NW Spain). This is an observational study carried out during 1 year on a random sample of the pediatric population aged between 5 and 15 years. The levels of vitamin D (25(OH)D) were determined by immunoassay (ADVIA Centaur Vitamin D®). The results were classified as sufficient (> 20 ng/ml), insufficient (10-20 ng/ml) and deficient (< 10 ng/ml). RESULTS: 153 analyses of vitamin D were carried out (58.2% in girls and 41.8% in boys), distributed in two age groups: 5-10 (62) and 10-15 (91). 66% of the total of the sample presented some degree of vitamin D deficit (60.1% insufficient (92) and 5.9% (11) deficient). In Galicia, there is a high prevalence of vitamin D deficiency/insufficiency in the healthy population, which increases if the patients present some kind of chronic pathology, thus leading to a public health problem. It is advisable to increase the consumption of fortified foods and/or to reconsider the administration of vitamin supplements.

[Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy]. / Hipotonía mixta, regresión neurológica y atrofia cerebelosa: manifestaciones sugestivas de distrofia neuroaxonal infantil.

INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, is a neurodegenerative disease of unknown origin which is transmitted by autosomal recessive inheritance. Clinically, it courses with psychomotor stagnation and regression that begins at the age of one or two years, associated to hypotonia with mixed clinical features (segmentary and suprasegmentary) that progresses towards spastic tetraplegia and progressive optic atrophy and dementia; this leads to death before the age of ten years. AIMS. To present the case of a 30 month old child with INAD, in whom a N acetylgalactosaminidase deficiency and mitochondrial cytopathy were ruled out. CASE REPORT: Male aged 30 months with an initial overall retardation, and later regression, of psychomotor acquisitions. In the physical exploration the patient displayed serious neurological involvement with mixed hypotonia, muscular hypotrophy with generalised weakness and mild bilateral horizontal nystagmus. Complementary explorations with neuroimaging revealed a slight increase in the subarachnoid space, with atrophy of the vermis and cerebellar hemispheres. Neurophysiological tests (EMG and ENG), which were initially normal, later showed signs of denervation in the EMG, and the ENG revealed a decreased amplitude of motor responses, with preservation of conduction speed. Histological tests showed the presence of axons with axoplasm expanded by the inclusion of typical tubulovascular structures. CONCLUSION: The clinical features of our patient met all the criteria to satisfy a diagnosis of INAD, and he displayed a classic form of the disease. INAD must be considered when the clinician is faced with: 1. A clinical picture of stagnation and later regression of psychomotor development before the age of two years; 2. Hypotonia, muscular atrophy and initial overall areflexia, with later progression towards pyramidalism; 3. Initially normal EMG findings, with later signs of denervation; 4. Cerebellar atrophy (hemispheres and vermis); 5. Visual deficit, and 6. Histopathological proof of characteristic findings.

Chronic gastric volvulus: is it so rare?

Gastric volvulus has traditionally been considered a rare entity in children, and standard texts on paediatrics typically make scant reference to it. In our experience, however, careful radiographic study of children with digestive symptoms reveals gastric volvulus to be more frequent than is commonly thought. We report 52 cases of this disorder, and discuss its diagnosis and treatment. Material and Methods. We performed a retrospective study of all children treated for chronic gastric volvulus in our department since 1976. Results. All 52 patients (27 boys, 25 girls) were term infants, mean age 2.8 months at diagnosis. The principal symptoms were crying and colic (90 %), vomiting and nausea (67 %). The mean age at onset of symptoms was 1.1 months. Diagnosis was in all cases on the basis of upper intestinal transit studies. The most frequent radiological signs were high greater curvature (87 %) and greater curvature crossing the oesophagus (83 %). Nine of the 52 children underwent primary surgery. The remaining 43 patients underwent conservative (i.e. postural) treatment; 11 of these patients showed no significant improvement and thus underwent surgery. We performed 20 surgical interventions (19 simple anterior gastropexies and one a percutaneous endoscopic gastrostomy). All patients showed good recovery after surgery. Conclusion. Careful examination of patients with vomiting, abdominal distension, gastro-oesophageal reflux, colic, crying, retarded growth, sleep problems, anxiety, and even repeated respiratory infections will reveal chronic gastric volvulus with greater frequency than has traditionally been thought. We believe that this entity is often undetected, and that, as a result, it is often inappropriately treated.

Severe myoclonic epilepsy associated with mitochondrial cytopathy.

We describe a case in which severe myoclonic epilepsy of infancy is associated with a disturbance in mitochondrial function. EEG traces showed diffuse spike-wave patterns inducible by intermittent photic stimulation. Laboratory analyses revealed high lactic acid levels in cerebrospinal fluid and urine, without metabolic acidosis or high lacticacidaemia. Muscle biopsy showed a slight increase in the number of mitochondria, which had a tendency towards subsarcolemmal locations, and clefts in the myofibrillar membrane that contained granular material staining positive for oxidative enzymes and red with modified Gomori stain. Quantification of the enzymatic activities of homogenized muscle showed partial deficiency of the mitochondrial respiratory chain complexes III and IV. Severe myoclonic epilepsy associated with mitochondrial cytopathy was diagnosed, but the possibility cannot be ruled out that the myoclonic epilepsy (or perhaps simply nonspecific epileptic encephalopathy) was secondary to the mitochondrial cytopathy. Thorough diagnostic analysis in severe myoclonic epilepsy cases is called for with a view to elucidation of a possible metabolic aetiology.

[Polymyositis and dermatomyositis in childhood]. / Poliomiositis y dermatomiositis en la infancia.

Authors report clinical and laboratory findings, treatment and evolution of six girls and three boys aged between 20 months and 13 years, diagnosed of juvenile polymyositis-dermatomyositis in the last seven years. Presenting symptoms were asthenia and proximal muscle weakness; in 3 cases characteristic skin lesions were associated. All were treated initially with prednisone p.o. (1-2 mg/kg/day) response being favourable in seven. Two patients with chronic evolution were treated with methotrexate and IV bolus of methylprednisolone.