Neuropatía tomacular: presentación de un caso pediátrico con estudio electrofisiológico normal / Tomaculous neuropathy: a case report with normal electrophysiology study

Introducción: La neuropatía tomacular, o neuropatía hereditaria con parálisis sensible a la presión, es una polineuropatía generalizada caracterizada por episodios recurrentes de parálisis y trastornos sensitivos indoloros tras leves traumatismos o compresiones. El diagnóstico se basa en una historia clínica sugestiva y un estudio neurofisiológico compatible con polineuropatía sensitivomotora desmielinizante; puede confirmarse mediante una biopsia del nervio y, actualmente, por estudios de genética molecular. En ellos se demuestra una deleción o mutación en el gen PMP 22 (localizado en la región 17p11.2), que producirá una disminución o anulación de su producto, la proteína de la mielina periférica 22 (PMP 22). Se trata de una entidad incluida dentro del grupo de las neuropatías periféricas sensitivomotoras hereditarias, con una prevalencia de 16/100.000; sin embargo, debido a su naturaleza insidiosa, probablemente esté subestimada. Caso clínico: Se describe el caso de una niña afectada por neuropatía tomacular, con clínica compatible portadora de la deleción del gen PMP 22, que presentó un estudio neurofisiológico normal. Conclusión: Destaca la normalidad del estudio neurofisiológico realizado en la niña, lo que justifica el estudio genético ante una clínica de neuropatía con parálisis sensible a la presión aunque no estén presentes las alteraciones electrofisiológicas típicas, sobre todo en cuadros con poco tiempo de evolución clínica (AU)

Tomaculous neuropathy or hereditary neuropathy with pressure sensitive palsies is a generalized polyneuropathy characterized by recurrent palsy episodies of sudden onset and not painful sensory disorder precipitated by minor trauma or compression. The diagnosis is performed by suggestive symptoms at clinical history and neurophysiological studies showing findings consistent with sensory-motor demyelinating polyneuropathy; it can be confirmed by nerve biopsy or molecular genetic studies showing a partial 17p11.2 deletion that removes the gene encoding the peripheral myelin protein 22 (PMP 22), or a decrease of this product. This is a relatively uncommon entity within the group of hereditary sensory-motor peripheral neuropathies (HSMN) with a prevalence of 16/100,000, however, because of its insidious nature it is probably underestimated. We report the case of a girl affected by tomaculous neuropathy with typical symptoms and carrier of the PMP 22 gene deletion who presented a normal neurophysiological study. We emphasize the normality of neurophysiological study in order to justify the genetic study in the case of clinical tomaculous neuropathy without electrophysiological abnormalities, especially in short time evolution cases AU)

Ventilación mecánica domiciliaria en niños: estudio multicéntrico español / Domiciliary mechanical ventilation in children: a spanish multicentre study

Introducción: La ventilación mecánica domiciliaria (VMD) es una técnica cada vez más frecuente en el niño. Existen pocos estudios que hayan analizado las características y necesidades de los niños sometidos a esta técnica. Material y métodos: Estudio descriptivo observacional transversal multicéntrico de pacientes entre un mes y 16 años dependientes de ventilación mecánica domiciliaria. Resultados: Se estudiaron 163 pacientes de 17 hospitales españoles con una edad media de 7,6 años. La causa más frecuente de VMD fueron los trastornos neuromusculares. El inicio de la VMD fue a una edad media de 4,6 años. Un 71,3% recibieron ventilación no invasiva. Los pacientes con ventilación invasiva tenían menor edad, menor edad de inicio de la VMD y mayor tiempo de uso diario. El 80,9% precisaban VM solo durante el sueño, y un 11,7% durante todo el día. Únicamente un 3,4% de los pacientes tiene asistencia sanitaria externa como ayuda a la familia. Un 48,2% es controlado en consultas específicas de VMD o consultas multidisciplinares. Un 72,1% de los pacientes está escolarizado (recibiendo enseñanza adaptada un 42,3%). Solo un 47,8% de los pacientes escolarizados cuentan con cuidadores específicos en su centro escolar. Conclusiones: La VMD en niños se utiliza en un grupo muy heterogéneo de pacientes iniciándose en un importante porcentaje en los primeros 3 años de vida. A pesar de que un significativo porcentaje de pacientes tiene una gran dependencia de la VMD pocas familias cuentan con ayudas específicas tanto a nivel escolar como en el domicilio, y el seguimiento sanitario es heterogéneo y poco coordinado(AU)

Introduction: Domiciliary mechanical ventilation (DMV) use is increasing in children. Few studies have analysed the characteristics of patients using this technique. Materials and methods: An observational, descriptive, transversal, multicentre study was conducted on patients between 1 month and 16 years of age dependent on domiciliary mechanical ventilation. Results: A total of 163 patients with a median age of 7.6 years from 17 Spanish hospitals were studied. The main reasons for DMV were neuromuscular disorders. The median age at beginning of DMV was 4.6 years. Almost three-quarters (71.3%) received non-invasive ventilation. Patients depending on invasive ventilation were younger, started DMV at an earlier age, and had more hours of mechanical ventilation per day. The large majority (80.9%) used DMV during sleep time only, and 11.7% during the whole day. Only 3.4% of patients had external health assistance. Just under half (48.2%) were being followed up in specific DMV or multidisciplinary clinics. Almost three-quarters (72.1%) of patients attended school (42.3% with adapted schooling). Only 47.8% of school patients had specific caregivers in their schools. Conclusions: DMV in children is used in a very heterogeneous group of patients, and in an important number of patients it is started before the third year of life. Despite there being a significant proportion of patients with a high dependency on DMV, few families receive specific support at home or at school, and health care surveillance is variable and poorly coordinated(AU)

[Domiciliary mechanical ventilation in children: a Spanish multicentre study]. / Ventilación mecánica domiciliaria en niños: estudio multicéntrico español.

INTRODUCTION: Domiciliary mechanical ventilation (DMV) use is increasing in children. Few studies have analysed the characteristics of patients using this technique. MATERIALS AND METHODS: An observational, descriptive, transversal, multicentre study was conducted on patients between 1 month and 16 years of age dependent on domiciliary mechanical ventilation. RESULTS: A total of 163 patients with a median age of 7.6 years from 17 Spanish hospitals were studied. The main reasons for DMV were neuromuscular disorders. The median age at beginning of DMV was 4.6 years. Almost three-quarters (71.3%) received non-invasive ventilation. Patients depending on invasive ventilation were younger, started DMV at an earlier age, and had more hours of mechanical ventilation per day. The large majority (80.9%) used DMV during sleep time only, and 11.7% during the whole day. Only 3.4% of patients had external health assistance. Just under half (48.2%) were being followed up in specific DMV or multidisciplinary clinics. Almost three-quarters (72.1%) of patients attended school (42.3% with adapted schooling). Only 47.8% of school patients had specific caregivers in their schools. CONCLUSIONS: DMV in children is used in a very heterogeneous group of patients, and in an important number of patients it is started before the third year of life. Despite there being a significant proportion of patients with a high dependency on DMV, few families receive specific support at home or at school, and health care surveillance is variable and poorly coordinated.

Reflujo gastroesofágico neonatal: presentación como crisis de hipo persistente / Neonatal gastroesophageal reflux: debut with persistent hiccups crisis

El hipo se define como contracciones espasmódicas, súbitas, involuntarias e intermitentes del diafragma. Se asocia al cierre anticipado y abrupto de la glotis, haciendo terminar la inspiración, y origina un sonido distintivo. Se clasifica en hipo transitorio si dura menos de 48 horas, hipo persistente si dura más de 48 horas, e hipo intratable si dura más de un mes. La forma aguda es un problema benigno y transitorio, la mayoría de las veces sin causa desencadenante conocida. Sin embargo, cuando es persistente suele relacionarse con causas orgánicas (digestivas, respiratorias, cardiacas...), en ocasiones de etiología grave, sobre todo en niños como una manifestación de una disfunción neurológica, por lo que está indicado el ingreso del paciente para su estudio. Presentamos el caso de un recién nacido con una crisis de hipo prolongada y continua, acompañada de disfunción respiratoria, asociada a un reflujo gastroesofágico moderado, patología no relacionada hasta ahora con el hipo persistente neonatal. Establecemos el diagnóstico diferencial del hipo persistente neonatal, poco referido en la literatura médica(AU)

Hiccups are defined as a sudden, involuntary and intermittent twitching of the diaphragm, associated with early and abrupt closure of the glottis by the end of the inspiration, and it create a distinctive sound. It is classified as transitional hiccups if it last less than 48 hours, persistent hiccups if it last more than 48 hours, and intractable hipccus if it last longer than 1 month. The acute form is a benign and transient problem, often without known precipitating cause. However, when it is persistent, it is often related to organic causes (digestive, respiratory, cardiac...), sometimes of serious etiology, especially in children with a manifestation of neurological dysfunction. In this cases, their admission to been study is indicated. We present a newborn with a crisis of prolonged and continuous hiccups accompanied by respiratory dysfunction, associated with moderate gastro-esophageal reflux, condition is not mentioned so far associated with neonatal persistent hiccups. We establish the differential diagnosis of neonatal persistent hiccups, little reported in the medical literature(AU)

Deshidratación hiponatrémica-hipoclorémica de repetición: inicio clínico de fibrosis quística en un lactante con genotipo R334W/1812(-1)G->A / Recurrent episodes of hyponatremic-hypochloremic dehydration as a presentation of cystic fibrosis in an infant with R334W/1812(-1)G->A mutation

La fibrosis quística (FQ) es una enfermedad exocrina autosómica recesiva de afectación multisistémica. El defecto asociado a la FQ se encuentra en un regulador transmembrana que actúa principalmente como canal de cloro. Los pacientes suelen presentar clínica respiratoria o digestiva. La severidad de la enfermedades multifactorial, y uno de sus determinantes es el nivel de actividad de la proteína CTFR y el tipo de mutación del paciente. El paciente de este caso desarrolló episodios recurrentes de anorexia, pérdida de peso, deshidratación y anomalías hidroelectrolíticas. A pesar de estas manifestaciones poco descritas en la bibliografía, se llegó al diagnóstico de FQ. Se encontraron las mutaciones R334W y 1812-1G-4. La FQ se debe considerar particularmente en los lactantes que presentan la clínica descrita de deshidrataciones recurrentes con alcalosis metabólica, hiponatremia e hipocloremia inexplicada por otras causas, incluso en ausencia de síntomas respiratorios, digestivos o fallo de medro(AU)

Cystic fibrosis (CF) is an autosomal recessive exocrine disease affecting multiple organ systems. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts primarily as a chloride channel. Patients with CF usually present with respiratory and/or gastrointestinal abnormalities. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of anorexia, weight loss, dehydration and electrolyte abnormalities. CF was diagnosed showing an unusual and not very publicized presentation of the disease. Mutations R334W and 1812-1G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with recurrent episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive(AU)