[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.

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

Introducción. La distrofia neuroaxonal infantil (DNAI) o enfermedad de Seitelberger, es una enfermedad neurodegenerativa de causa desconocida, transmisible bajo un patrón hereditario autosómico recesivo. Clínicamente, cursa con estancamiento psicomotor y posterior regresión, de inicio en el primer o segundo año de vida, asociado a hipotonía de semiología mixta (segmentaria y suprasegmentaria) que progresa a una tetraplejía espástica, atrofia óptica y demencia progresivas; la muerte sobreviene hacia el final de la primera década de la vida. Objetivos. Presentar un niño de 30 meses de edad con DNAI, en el que se descartó una citopatía mitocondrial y una deficiencia de la enzima Alfa -N-acetil-galactosaminidasa. Caso clínico. Varón de 30 meses de edad, con un retraso inicial de adquisiciones psicomotoras de forma global, con posterior regresión. En la exploración física presentó afectación neurológica grave con hipotonía mixta, hipotrofia muscular con debilidad generalizada y leve nistagmo horizontal bilateral. En las exploraciones complementarias destacó en la neuroimagen un leve aumento del espacio subaracnoideo, con atrofia del vermis y los hemisferios cerebelosos. Las pruebas neurofisiológicas -electromiografía (EMG) y electroneurografía (ENG)- fueron normales inicialmente; pero, más tarde, la EMG mostró signos de denervación, y la ENG, una disminución de la amplitud de las respuestas motoras, con preservación de la velocidad de conducción. Histológicamente, se demostró la presencia de axones con un axoplasma expandido que contenía las típicas inclusiones tubulovesiculares. Conclusión. El cuadro clínico de nuestro paciente cumple todos los criterios diagnósticos de DNAI, y se encuadra en una forma clásica de la enfermedad. La DNAI debe considerarse ante: 1) Clínica de estancamiento y posterior regresión del desarrollo psicomotor antes del segundo año de vida; 2) Hipotonía, atrofia muscular y arreflexia global inicial, con evolución posterior hacia un cuadro de piramidalismo; 3) Hallazgos electromiográficos iniciales normales, con signos posteriores de denervación; 4) Atrofia cerebelosa (hemisferios y vermis); 5) Déficit visual, y 6) Demostración histopatológica de hallazgos característicos (AU)

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 α-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 (AU)

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Epidemiology and economic impact of varicella in immunocompetent children in Spain. A nation-wide study.

The epidemiology and burden of varicella was assessed through the prospective study of 683 children under 15 years, by 58 primary care paediatricians working on seven autonomous communities of Spain. The mean age was 4.5+/-2.7 years, and 566 (83%) were secondary cases. There were 111 complications in 101 children (14.8%), skin superinfection being the most frequent (8.9%), followed by respiratory tract (4.5%) and eye (2.2%) infections. The mean number of visits to the paediatric clinic was 1.42 (95% C.I. 1.37-1.47), and 5.6% of the children were attended in the emergency department of a hospital previously. All children had at least one prescription, being antihistamines and antipyretics the most prescribed. Thirteen percent received systemic antibiotics and 11% acyclovir. Children were mainly cared by grandparents, and parents were off work for a mean of 0.97 days (1.61 if children under 5 years attended day-care facilities; 0.51 if they did not). Costs derived from medical attention totalled 32.5, and social indirect costs were 63.77.

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.

El concepto de riesgo y su aplicación al ámbito pediátrico / The concept of risk. Impact on present pediatrics

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[Use of flumazenil to reverse the effects of midazolam in children]. / Utilidad del flumazenil para revertir las acciones del midazolam en niños.

We have studied the clinical usefulness of Flumazenil to reverse the sedative action of Midazolam in 12 children admitted in a Pediatric Intensive Care Unit. Two groups were established, one treated with individual dose and the other treated with continuous infusion. In four cases the indication of Flumazenil was the reversion of secondary effects and in 8 cases it was elective. The average reversion time was 1.22 +/- 0.42 minutes. Flumazenil is able to reverse immediately the effects of Midazolam.

[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.