Prevalencia del síndrome de apnea obstructiva del sueño infantil en una unidad de sueño de referencia / Prevalence of childhood obstructive sleep apnoea syndrome in a referral sleep unit

Introducción: El síndrome de apnea obstructiva del sueño (SAOS) afecta a entre el 1 y el 6% de la población infantil. En su diagnóstico, se incluyen: a) ronquidos y/o apneas; y b) un índice de apneas e hipopneas >3/hora obtenido en la polisomnografía (PSG). El objetivo principal de este trabajo es determinar la prevalencia del SAOS en nuestra población de estudio. Pacientes y métodos: Estudio descriptivo con una muestra de 151 niños con edades comprendidas entre 1 y 12 años, remitidos a la unidad de sueño del Hospital General Universitario Gregorio Marañón para la realización de una PSG. Se analizaron las variables demográficas sexo y edad; las variables clínicas ronquidos, apneas e hipertrofia amigdalar; y la presencia de SAOS basada en el criterio diagnóstico polisomnográfico de un índice de apneas e hipopneas >3/hora. Resultados: La edad media de la muestra fue de 5,37 años (desviación estándar: 3,05) y el 64,9% eran varones. En el 90,1% de los casos, el motivo de consulta fue sospecha de SAOS. Los ronquidos, las apneas y la hipertrofia amigdalar se observaron en el 73,5, el 48,7 y el 60% de los casos, respectivamente. Se diagnosticó SAOS en 19 (12,6%) niños; en el 13,5% de los roncadores; en el 15,1% de los niños con apneas; y en el 15,6% de los niños con hipertrofia amigdalar. Conclusiones: En nuestro estudio, la prevalencia del SAOS en niños fue del 12,6%, superior a la descrita en la mayoría de los estudios epidemiológicos, pero similar a la observada en los que incluyen la PSG para el diagnóstico del SAOS.(AU)

Introduction: Obstructive sleep apnoea syndrome (OSAS) affects between 1% and 6% of children. Its diagnosis includes: a) snoring and/or apnoea; and b) an apnoea and hypopnoea index >3/hour obtained by polysomnography (PSG). The main aim of this work is to determine the prevalence of OSAS in our study population. Patients and methods: We conducted a descriptive study with a sample of 151 children aged between 1 and 12 years, who had been referred to the sleep unit of the Hospital General Universitario Gregorio Marañón for a PSG. We analysed the demographic variables sex and age; the clinical variables snoring, apnoeas and tonsillar hypertrophy; and the presence of OSAS based on the polysomnographic diagnostic criterion of an apnoea and hypopnoea index >3/hour. Results: The mean age of the sample was 5.37 years (standard deviation: 3.05) and 64.9% were males. In 90.1% of cases, the reason for the visit was suspected OSAS. Snoring, apnoeas and tonsillar hypertrophy were observed in 73.5, 48.7 and 60% of cases, respectively. OSAS was diagnosed en 19 children (12.6%); in 13.5% of snorers; in 15.1% of those with apnoeas; and in 15.6% of the children with tonsillar hypertrophy. Conclusions: In our study, the prevalence of OSAS in children was 12.6%, which is higher than that reported in most epidemiological studies that include PSG for the diagnosis of OSAS.(AU)

[Prevalence of childhood obstructive sleep apnoea syndrome in a referral sleep unit]. / Prevalencia del síndrome de apnea obstructiva del sueño infantil en una unidad de sueño de referencia.

INTRODUCTION: Obstructive sleep apnoea syndrome (OSAS) affects between 1% and 6% of children. Its diagnosis includes: a) snoring and/or apnoea; and b) an apnoea and hypopnoea index >3/hour obtained by polysomnography (PSG). The main aim of this work is to determine the prevalence of OSAS in our study population. PATIENTS AND METHODS: We conducted a descriptive study with a sample of 151 children aged between 1 and 12 years, who had been referred to the sleep unit of the Hospital General Universitario Gregorio Maranon for a PSG. We analysed the demographic variables sex and age; the clinical variables snoring, apnoeas and tonsillar hypertrophy; and the presence of OSAS based on the polysomnographic diagnostic criterion of an apnoea and hypopnoea index >3/hour. RESULTS: The mean age of the sample was 5.37 years (standard deviation: 3.05) and 64.9% were males. In 90.1% of cases, the reason for the visit was suspected OSAS. Snoring, apnoeas and tonsillar hypertrophy were observed in 73.5, 48.7 and 60% of cases, respectively. OSAS was diagnosed en 19 children (12.6%); in 13.5% of snorers; in 15.1% of those with apnoeas; and in 15.6% of the children with tonsillar hypertrophy. CONCLUSIONS: In our study, the prevalence of OSAS in children was 12.6%, which is higher than that reported in most epidemiological studies that include PSG for the diagnosis of OSAS.

TITLE: Prevalencia del síndrome de apnea obstructiva del sueño infantil en una unidad de sueño de referencia.Introducción. El síndrome de apnea obstructiva del sueño (SAOS) afecta a entre el 1 y el 6% de la población infantil. En su diagnóstico, se incluyen: a) ronquidos y/o apneas; y b) un índice de apneas e hipopneas >3/hora obtenido en la polisomnografía (PSG). El objetivo principal de este trabajo es determinar la prevalencia del SAOS en nuestra población de estudio. Pacientes y métodos. Estudio descriptivo con una muestra de 151 niños con edades comprendidas entre 1 y 12 años, remitidos a la unidad de sueño del Hospital General Universitario Gregorio Marañón para la realización de una PSG. Se analizaron las variables demográficas sexo y edad; las variables clínicas ronquidos, apneas e hipertrofia amigdalar; y la presencia de SAOS basada en el criterio diagnóstico polisomnográfico de un índice de apneas e hipopneas >3/hora. Resultados. La edad media de la muestra fue de 5,37 años (desviación estándar: 3,05) y el 64,9% eran varones. En el 90,1% de los casos, el motivo de consulta fue sospecha de SAOS. Los ronquidos, las apneas y la hipertrofia amigdalar se observaron en el 73,5, el 48,7 y el 60% de los casos, respectivamente. Se diagnosticó SAOS en 19 (12,6%) niños; en el 13,5% de los roncadores; en el 15,1% de los niños con apneas; y en el 15,6% de los niños con hipertrofia amigdalar. Conclusiones. En nuestro estudio, la prevalencia del SAOS en niños fue del 12,6%, superior a la descrita en la mayoría de los estudios epidemiológicos, pero similar a la observada en los que incluyen la PSG para el diagnóstico del SAOS.

Manejo y factores de riesgo de mortalidad del estatus epiléptico: estudio retrospectivo / Status epilepticus management and mortality risk factors: A retrospective study

Introducción: El estatus epiléptico (SE, por sus siglas en inglés) es una urgencia neurológica con altas tasas de mortalidad. En este estudio analizamos el manejo del SE e identificamos factores de riesgo de mortalidad en los que realizar intervenciones de mejora o modificaciones en los protocolos de actuación hospitalarios. Métodos: Retrospectivamente se analizaron los datos demográficos de tratamiento y pronóstico de 65 pacientes (59 [44,5-77] años, 53,8% mujeres) que ingresaron en un hospital terciario cumpliendo los criterios de SE de la ILAE 2015, durante un periodo de 18 meses. Resultados: Treinta (46,2%) pacientes tenían antecedentes de epilepsia. Las causas más frecuentes de SE fueron enfermedad cerebrovascular (27,7%) e infección sistémica (16,9%). Se registraron desviaciones respecto al tratamiento habitual: la administración de las benzodiazepinas como primer fármaco solo en 33 (50,8%) pacientes, la combinación de 2 benzodiazepinas en 7 (10,8%) pacientes y el uso off-label de lacosamida en 5 (7,7%) pacientes. El electroencefalograma (EEG) fue realizado únicamente en 26 (40%) pacientes y solo 5 EEG (7,7% de pacientes) en las primeras 12 h. La tasa de mortalidad fue del 21,5%. Ictus agudo y complicaciones cerebrovasculares se asociaron con mortalidad, mientras que epilepsia previa e ingreso en la unidad de cuidados intensivos (UCI) fueron factores de buen pronóstico (p < 0,05). Conclusiones: Para mejorar el manejo del SE y reducir la tasa de mortalidad, sería recomendable implementar actividades formativas dirigidas a los profesionales del departamento de urgencias, así como el ingreso electivo en la UCI para pacientes con factores de riesgo (primera crisis epiléptica, con ictus agudo o complicaciones cardiovasculares). (AU)

Introduction: Status epilepticus (SE) is a neurological emergency with relatively high mortality rates. In this study, we analysed the management of SE and identified mortality risk factors that may be addressed with educational interventions or modifications to hospital protocols. Methods: In this retrospective study, we analysed demographic, treatment, and outcome data from 65 patients (mean age, 59 years [range, 44.5-77]; 53.8% women) who were admitted to our tertiary hospital during an 18-month period and met the 2015 International League Against Epilepsy criteria for SE. Results: Thirty patients (46.2%) had history of epilepsy. The most frequent causes of SE were cerebrovascular disease (27.7%) and systemic infection (16.9%). The following deviations were observed in the administration of the antiepileptic drugs: benzodiazepines were used as first option in only 33 (50.8%) patients; the combination of 2 benzodiazepines was recorded in 7 cases (10.8%); and lacosamide was used as an off-label drug in 5 patients (7.7%). Electroencephalography studies were performed in only 26 patients (40%); and only 5 studies (7.7% of patients) were performed within 12 hours of seizure onset. The mortality rate was 21.5%. Acute stroke and cerebrovascular complications were associated with higher mortality rates, while previous history of epilepsy and admission to intensive care were related to better prognosis (P <.05). Conclusions: To improve SE management and reduce mortality rates, training activities targeting emergency department physicians should be implemented, together with elective intensive care admission for patients with multiple mortality risk factors (eg, absence of history of epilepsy, acute stroke, or cardiovascular complications). (AU)

Status epilepticus management and mortality risk factors: a retrospective study.

INTRODUCTION: Status epilepticus (SE) is a neurological emergency with relatively high mortality rates. In this study, we analysed the management of SE and identified mortality risk factors that may be addressed with educational interventions or modifications to hospital protocols. METHODS: In this retrospective study, we analysed demographic, treatment, and outcome data from 65 patients (mean age, 59 years [range, 44.5-77]; 53.8% women) who were admitted to our tertiary hospital during an 18-month period and met the 2015 International League Against Epilepsy criteria for SE. RESULTS: Thirty patients (46.2%) had history of epilepsy. The most frequent causes of SE were cerebrovascular disease (27.7%) and systemic infection (16.9%). The following deviations were observed in the administration of the antiepileptic drugs: benzodiazepines were used as first option in only 33 (50.8%) patients; the combination of 2 benzodiazepines was recorded in 7 cases (10.8%); and lacosamide was used as an off-label drug in 5 patients (7.7%). Electroencephalography studies were performed in only 26 patients (40%); and only 5 studies (7.7% of patients) were performed within 12 hours of seizure onset. The mortality rate was 21.5%. Acute stroke and cerebrovascular complications were associated with higher mortality rates, while previous history of epilepsy and admission to intensive care were related to better prognosis (P <  .05). CONCLUSIONS: To improve SE management and reduce mortality rates, training activities targeting emergency department physicians should be implemented, together with elective intensive care admission for patients with multiple mortality risk factors (eg, absence of history of epilepsy, acute stroke, or cardiovascular complications).

Status epilepticus management and mortality risk factors: A retrospective study. / Manejo y factores de riesgo de mortalidad del estatus epiléptico: estudio retrospectivo.

INTRODUCTION: Status epilepticus (SE) is a neurological emergency with relatively high mortality rates. In this study, we analysed the management of SE and identified mortality risk factors that may be addressed with educational interventions or modifications to hospital protocols. METHODS: In this retrospective study, we analysed demographic, treatment, and outcome data from 65 patients (mean age, 59 years [range, 44.5-77]; 53.8% women) who were admitted to our tertiary hospital during an 18-month period and met the 2015 International League Against Epilepsy criteria for SE. RESULTS: Thirty patients (46.2%) had history of epilepsy. The most frequent causes of SE were cerebrovascular disease (27.7%) and systemic infection (16.9%). The following deviations were observed in the administration of the antiepileptic drugs: benzodiazepines were used as first option in only 33 (50.8%) patients; the combination of 2 benzodiazepines was recorded in 7 cases (10.8%); and lacosamide was used as an off-label drug in 5 patients (7.7%). Electroencephalography studies were performed in only 26 patients (40%); and only 5 studies (7.7% of patients) were performed within 12 hours of seizure onset. The mortality rate was 21.5%. Acute stroke and cerebrovascular complications were associated with higher mortality rates, while previous history of epilepsy and admission to intensive care were related to better prognosis (P <.05). CONCLUSIONS: To improve SE management and reduce mortality rates, training activities targeting emergency department physicians should be implemented, together with elective intensive care admission for patients with multiple mortality risk factors (eg, absence of history of epilepsy, acute stroke, or cardiovascular complications).

Síndrome de cefalea transitoria con déficits neurológicos asociados y pleocitosis en líquido cefalorraquídeo (HaNDL) con cuadro confusional, EEG compatible con afectación difusa y datos de vasoespasmo bilateral en estudio Doppler transcraneal: presentación de un caso y revisión de la literatura / Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) in a patient with confusional symptoms, diffuse EEG abnormalities, and bilateral vasospasm in transcranial Doppler ultrasound: A case report and literature review

Introducción: El síndrome de cefalea y déficits neurológicos transitorios con pleocitosis en líquido cefalorraquídeo (acrónimo en inglés, HaNDL) se caracteriza por la presencia de uno o más episodios de cefalea y déficits neurológicos transitorios asociados con linfocitosis en líquido cefalorraquídeo. Hasta la fecha actual se han reportado escasos episodios de HaNDL con clínica compatible con cuadro confusional, y no se encuentran descritas mediciones de Doppler transcraneal (DTC) en pacientes afectos de HaNDL y cuadro confusional. En los registros DTC realizados en pacientes con afectación focal se han objetivado datos indicativos de alteraciones vasomotoras. Desarrollo: Presentamos el caso clínico y los resultados de pruebas complementarias de un varón de 42años afecto de cefalea, síndrome confusional, pleocitosis, electroencefalograma (EEG) con enlentecimiento difuso, DTC con elevación de velocidades en ambas arterias cerebrales medias y tomografía computarizada por emisión de fotón único compatible con afectación difusa de predominio hemisférico izquierdo. Conclusiones: Aportamos a la literatura el primer paciente descrito que aúna síndrome de HaNDL, cuadro confusional, EEG compatible con afectación difusa y DTC con aceleración de velocidades. Nuestros hallazgos sugieren una relación entre las alteraciones vasomotoras y la fisiopatología del HaNDL, y consideramos que el DTC es una herramienta útil para el diagnóstico precoz del HaNDL

Introduction: HaNDL syndrome (transient headache and neurological deficits with cerebrospinal fluid lymphocytosis) is characterised by one or more episodes of headache and transient neurological deficits associated with cerebrospinal fluid lymphocytosis. To date, few cases of HaNDL manifesting with confusional symptoms have been described. Likewise, very few patients with HaNDL and confusional symptoms have been evaluated with transcranial Doppler ultrasound (TCD). TCD data from patients with focal involvement reveal changes consistent with vasomotor alterations. Development: We present the case of a 42-year-old man who experienced headache and confusional symptoms and displayed pleocytosis, diffuse slow activity on EEG, increased blood flow velocity in both middle cerebral arteries on TCD, and single-photon emission computed tomography (SPECT) findings suggestive of diffuse involvement, especially in the left hemisphere. Conclusions: To our knowledge, this is the first description of a patient with HaNDL, confusional symptoms, diffuse slow activity on EEG, and increased blood flow velocity in TCD. Our findings suggest a relationship between cerebral vasomotor changes and the pathophysiology of HaNDL. TCD may be a useful tool for early diagnosis of HaNDL

Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) in a patient with confusional symptoms, diffuse EEG abnormalities, and bilateral vasospasm in transcranial Doppler ultrasound: A case report and literature review. / Síndrome de cefalea transitoria con déficits neurológicos asociados y pleocitosis en líquido cefalorraquídeo (HaNDL) con cuadro confusional, EEG compatible con afectación difusa y datos de vasoespasmo bilateral en estudio Doppler transcraneal: presentación de un caso y revisión de la literatura.

INTRODUCTION: HaNDL syndrome (transient headache and neurological deficits with cerebrospinal fluid lymphocytosis) is characterised by one or more episodes of headache and transient neurological deficits associated with cerebrospinal fluid lymphocytosis. To date, few cases of HaNDL manifesting with confusional symptoms have been described. Likewise, very few patients with HaNDL and confusional symptoms have been evaluated with transcranial Doppler ultrasound (TCD). TCD data from patients with focal involvement reveal changes consistent with vasomotor alterations. DEVELOPMENT: We present the case of a 42-year-old man who experienced headache and confusional symptoms and displayed pleocytosis, diffuse slow activity on EEG, increased blood flow velocity in both middle cerebral arteries on TCD, and single-photon emission computed tomography (SPECT) findings suggestive of diffuse involvement, especially in the left hemisphere. CONCLUSIONS: To our knowledge, this is the first description of a patient with HaNDL, confusional symptoms, diffuse slow activity on EEG, and increased blood flow velocity in TCD. Our findings suggest a relationship between cerebral vasomotor changes and the pathophysiology of HaNDL. TCD may be a useful tool for early diagnosis of HaNDL.

Estimulación cortical motora a nivel subdural interhemisférico para el tratamiento del dolor neuropático en el miembro inferior / Motor cortex stimulation in the interhemispheric subdural space as treatment of neuropathic pain in the lower limbs

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[Refractory temporal epilepsy. An analysis of 33 cases submitted to surgery]. / Epilepsia temporal farmacorresistente. Analisis de 33 casos intervenidos quirurgicamente.

AIM: To analyze clinical manifestations, ictal, interictal and intraoperative EEG monitoring in patients with medical treatment refractory temporal epilepsy successfully controlled surgically. PATIENTS AND METHODS: Retrospective analysis, 33 patients. Mean age: 36 ± 11.40; number of monthly seizures: 9 ± 14.23; mean duration of disease: 22 years; number of anti-epileptic drugs: 3 ± 0.93; average monitoring duration on Intensive Video-EEG Monitoring Unit: 6.42 ± 3.61 days. Scalp EEG was recorded with surface electrodes placed according to the 10-20 international system. RESULTS: 158 seizures were recorded, most of them focal complex. 82% of patients presented aura. Disturbances of consciousness appeared in 94.3%, being more precocious than the automatisms in the majority of the sample. The most frequent and precocious automatisms were oromandibular. Intercritical: epileptiform activity was observed in 87.9% of cases; sharp waves in 93.1%, increasing with sleepiness in 97%. Polyspikes during REM sleep in 21.2%. Bilateral epileptiform activity in 21.1%. Ictal activity: changes on EEG activity was observed previous to clinical manifestation in more than 69%. Type of ictal onset: flattening (46%), rhythmic slow activity (41.7%). Ictal onset was focal in 48.9%. CONCLUSIONS: Detailed knowledge of clinical and electrical manifestations of temporal lobe epilepsies would allow a precocious diagnosis and a reduction of accessing time of these patients to surgical treatment in case of pharmaco-resistance.

[Frontal seizures recorded by magnetoencephalography. Case report]. / Crisis frontales registradas mediante magnetoencefalografía. Caso clínico.

INTRODUCTION: This paper reports the usefulness of magnetoencephalography (MEG) in the anatomical localization of the onset and spread of seizures. CASE REPORT: In a 34-year-old male patient who suffered from drug-resistant complex partial seizures (sometimes generalized) with loss of awareness, magnetic resonance imaging revealed a probable left frontobasal cortical dysplasia. Ictal scalp electroencephalogram showed left frontotemporal theta waves. Electrocorticography (ECoG) registered interictal polyspike discharges and located the seizure onset in the lateral orbital side of the left frontal lobe. Three seizures were registered by MEG, clinically similar to the ones usually experienced by the patient. MEG ictal spike dipole location showed seizure onset coming from the left inferior frontal gyrus (as the ECoG), spreading on to other frontal areas, insula and temporal lobe, all in the left hemisphere. CONCLUSION: MEG may be considered as a useful diagnosis modality in the study of partial seizure physiopathology as well as in its presurgical evaluation.

Crisis frontales registradas mediante magnetoencefalografía. Caso clínico / Frontal seizures recorded by magnetoencephalography. Case report

Introducción. Este artículo expone un ejemplo de la utilidadde la magnetoencefalografía (MEG) en la localización anatómicadel inicio y la propagación de las crisis epilépticas. Caso clínico.Se trata de un paciente de 34 años con crisis parciales complejas farmacorresistentes.La resonancia magnética presenta una probabledisplasia cortical frontobasal izquierda. El electroencefalograma ictalde superficie revela ondas theta frontotemporales izquierdas. Enel registro con electrodos subdurales se demuestra la existencia deanomalías epileptiformes interictales durante el sueño, entre las quepredominan las polipuntas, y crisis de inicio focal en la cara lateroorbitariadel lóbulo frontal izquierdo. La MEG registra tres crisis clínicamentesimilares a las experimentadas por el paciente y permitelocalizar el inicio de las crisis en la circunvolución frontal inferiorizquierda, con propagación a otras áreas frontales, la ínsula y ellóbulo temporal, todo ello en el hemisferio izquierdo. Conclusión. LaMEG puede considerarse como un elemento diagnóstico útil en el estudiode la fisiopatología de las crisis parciales, así como en la evaluaciónprequirúrgica

Introduction. This paper reports the usefulness of magnetoencephalography (MEG) in the anatomical localization ofthe onset and spread of seizures. Case report. In a 34-year-old male patient who suffered from drug-resistant complex partialseizures (sometimes generalized) with loss of awareness, magnetic resonance imaging revealed a probable left frontobasalcortical dysplasia. Ictal scalp electroencephalogram showed left frontotemporal theta waves. Electrocorticography (ECoG)registered interictal polyspike discharges and located the seizure onset in the lateral orbital side of the left frontal lobe. Threeseizures were registered by MEG, clinically similar to the ones usually experienced by the patient. MEG ictal spike dipolelocation showed seizure onset coming from the left inferior frontal gyrus (as the ECoG), spreading on to other frontal areas,insula and temporal lobe, all in the left hemisphere. Conclusion. MEG may be considered as a useful diagnosis modality in thestudy of partial seizure physiopathology as well as in its presurgical evaluation

[Modified aspiration needle muscular biopsy in neuromuscular diseases. Use and advantages over open surgical biopsy]. / Estudio de las enfermedades neuromusculares por biopsia percutánea mediante aguja con aspiración modificada. Utilidad y ventajas sobre la biopsia quirúrgica.

OBJECTIVE: To evaluate aspiration needle muscular biopsy as an alternative to surgical open biopsy, so we focus on its results and tolerance. PATIENTS AND METHODS: We studied 150 patients with muscular pathology of every kind, and aged between 10 and 86 years, using a modified Allendale/Liverpool needle which by our indication has a built-in lateral funnel that provides faultless aspiration in 100% of cases. Percutaneous biopsy neuromuscular disorders study with modified aspiration Allendale needle: use and advantages over surgical biopsy. RESULTS: The biopsy, which was very well tolerated by the patients, children in particular, left no scar and produced fine samples for standard, immunohistochemical, ultrastructural, biochemical and genetic investigation. In children beyond 10 years of age no general anesthetics was required and in many 4-10 years neither. A number of unsuspected cases of mitochondrial or inflammatory myopathy were detected. Patients with cramps or unclearly defined clinical picture did, however, show frequent morphological pathology. In just three cases samples were defective; all others produced changes of diagnostic or prognostic value with 8% without morphologically abnormal changes. CONCLUSIONS: Modified aspiration needle biopsy is the choice method to study muscle. The samples are of excellent quality allowing for any kind of morphological, biochemical or genetic investigation. The procedure is routinely very well tolerated by patients so is very superior to open surgical biopsy, that we still use for infants in selected cases.

[Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain]. / Neuropatías sensitivas autonómicas hereditarias. Dos casos con insensibilidad congenita al dolor; aspectos neurofisiológicos y patológicos.

AIM: Two patients suffering from congenital insensitivity to pain were studied. They corresponded to types IV and V of the 'hereditary sensory and autonomic neuropathies' (HSAN) classification. CASE REPORTS: The first case showed important autonomic dysfunctions, such as anhidrosis, hyperthermia, skin and bone trophic impairment, and mental retardation; the second one only exhibited alterations in pain and temperature sensibilities. In both, chronic indolent corneal ulcers were also present. Conventional neurophysiological evaluation of the neuromuscular system was normal, but an afferent disturbance of the blink reflex (BR) was evident in both. The sympathetic skin response was absent in the HSAN type IV case and normal in the HSAN type V. Notable reduction of the small myelinated fibres, associated to almost no unmyelinated fibres in the first case, were found in the sural nerve biopsies. CONCLUSIONS: So far there haven't been described BR abnormalities in patients with congenital insensitivity to pain, which should be related to a trigeminal sensory impairment, which could explain the corneal ulcers that suffered these cases. BR studies should be included in the neurophysiological evaluation of the suspected small fibre neuropathies even when there are no facial symptoms shown.

Neuropatías sensitivas autonómicas hereditarias. Dos casos con insensibilidad congénita al dolor: aspectos neurofisiológicos y patológicos / Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain

Introducción. Se estudian dos casos de insensibilidad congénita al dolor que correspondían, en la clasificación de las neuropatías sensitivas autonómicas hereditarias (NSAH), a los tipos IV y V. Casos clínicos. El primer caso asociaba trastornos autonómicos muy importantes, con anhidrosis, hipertermia, lesiones tróficas cutáneas y óseas y retraso mental; el segundo sólo presentaba alteraciones muy intensas de la sensibilidad dolorosa y térmica; ambos mostraban úlceras corneales recurrentes graves. La valoración convencional neurofisiológica del sistema neuromuscular fue normal, pero en ambos casos existían anomalías en la aferencia del reflejo de parpadeo (RP); la respuesta simpática cutánea estaba abolida en el caso de la NSAH tipo IV y era normal en la NSAH tipo V. Las biopsias de nervio sural mostraban una deficiencia marcada de fibras mielínicas finas, que se asociaba a una ausencia casi completa de las amielínicas en el primer caso. Conclusiones. La alteración no descrita hasta el momento del RP en casos de insensibilidad congénita al dolor debería relacionarse con una afectación sensitiva del territorio trigeminal que, a su vez, en los casos actuales, explicaría la presencia de las úlceras corneales. El estudio del RP debería considerarse sistemáticamente en la valoración neurofisiológica de las neuropatías de fibras finas y de mediano calibre, incluso sin afectación clínica del segmento facial (AU)

Introduction. Two patients suffering from congenital insensitivity to pain were studied. They corresponded to types IV and V of the ‘hereditary sensory and autonomic neuropathies’ (HSAN) classification. Case reports. The first case showed important autonomic dysfunctions, such as anhidrosis, hyperthermia, skin and bone trophic impairment, and mental retardation; the second one only exhibited alterations in pain and temperature sensibilities. In both, chronic indolent corneal ulcers were also present. Conventional neurophysiological evaluation of the neuromuscular system was normal, but an afferent disturbance of the blink reflex (BR) was evident in both. The sympathetic skin response was absent in the HSAN type IV case and normal in the HSAN type V. Notable reduction of the small myelinated fibres, associated to almost no unmyelinated fibres in the first case, were found in the sural nerve biopsies. Conclusions. So far there haven’t been described BR abnormalities in patients with congenital insensitivity to pain, which should be related to a trigeminal sensory impairment, which could explain the corneal ulcers that suffered these cases. BR studies should be included in the neurophysiological evaluation of the suspected small fibre neuropathies even when there are no facial symptoms shown (AU)