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Guillain-Barré syndrome (GBS) is characterized by rapidly progressive and generally ascending symmetrical muscle weakness, accompanied by decreased or absent osteotendinous reflexes. The inflammatory process may affect the myelin or the axon. There are 4 clinical forms of GBS: 1) acute inflammatory demyelinating polyradiculoneuropathy, 2) acute motor axonal neuropathy, 3) acute sensory and motor axonal neuropathy, and 4) the Miller-Fisher variant, which is characterized by ophthalmoplegia, ataxia and areflexia, with little muscle weakness. Diagnosis is based on the albumin-cytological dissociation observed at the end of the first week after the onset of symptoms and may persist until the third week, as well as on the specific neurophysiological alterations of each clinical form. The treatment of GBS will depend on the degree of severity, if the patient presents grade IV or less according to the Paradiso scale, it will be treated with Ig IV, if it presents grade V, the use of plasmapheresis and/or immunoadbosorption is recommended. In severe axonal cases, the use of corticosteroid bolus is recommended in initial stages. There is a clinical picture that overlaps GBS and chronic demyelinating polyneuropathy related to antibodies against neurophysin and contactin, in this case the appropriate therapy is rituximab.

El síndrome de Guillain-Barré (SGB) se caracteriza por debilidad muscular simétrica rápidamente progresiva y generalmente ascendente, acompañada de disminución o ausencia de reflejos osteotendinosos. El proceso inflamatorio puede afectar a la mielina o al axón. Existen 4 formas clínicas de SGB: 1) polirradiculoneuropatía desmielinizante inflamatoria aguda, 2) neuropatía axonal motora aguda, 3) neuropatía axonal sensitiva y motora aguda, y 4) la variante Miller-Fisher, que se caracteriza por oftalmoplejía, ataxia y arreflexia, con escasa debilidad muscular. El diagnóstico se basa en la disociación albúmino-citológica que se observa a final de la primera semana del inicio de los síntomas y puede persistir hasta la tercera semana, así como en las alteraciones neurofisiológicas específicas de cada forma clínica. El tratamiento el SGB, dependerá de la gravedad, si el paciente presenta grado IV o menor según la escala de Paradiso, se tratará con Ig IV, si presenta grado V, se recomienda el uso de plasmaféresis y/o inmunoadbosorción. En los casos axonales graves se recomienda el uso de bolus de corticoides en etapas iniciales. Existe un cuadro clínico que solapa SGB y polineuropatía desmielinizante crónica relacionado con anticuerpos contra neurofisina y contactina, en este caso la terapia adecuada es rituximab.

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OBJECTIVES: The study is aimed to analyze both sleep architecture and prevalence of sleep-disordered breathing (SDB), in a group of patients with type 2 spinal muscular atrophy (SMA), considering motor dysfunction, and compare them with age-matched controls. METHODS: Eighteen SMA type 2 patients (nine males median age 9.5 (4-17) years) and eighteen controls (fourteen males, median age 8,5 (1-16) years) underwent nocturnal polysomnography. SMA type 2 patients were evaluated with motor scales; Hammersmith Functional Motor Scale Expanded (HFMSE), Revised upper limb model (ULMR) and Egen Klassification Scale Version 2 (EK2). Parents/tutors completed two pediatric sleep questionnaires (respiratory subscale from Chervin Pediatric Sleep Questionnaire and Bruni's Sleep Disturbance Scale for Children). RESULTS: When compared with controls, SMA type 2 patients showed no significant differences in age (9.72 ± 4.2 vs 8.22 ± 3.9 (p = 0.28), gender 9 (9 men (50%) vs 14 (77,8%) (p = 0.083) and nutritional status; Body Mass Index (BMI) (16.4 (12.2-34.8) vs 17.6 (4.4-24.2) (p = 0.83). Apnea Hypopnea Index (AHI) was statistically higher in SMA type 2 patients (6.7 ± 6.2 vs 0.4 ± 0.3) (p < 0.001). The SpO2 mean values in cases were (96% ± 1.4) vs (97.5% ± 1.2) (p = 0.007). TcPCO2 median value (41,5 mmHg; (range 34-47.2) in the SMA type-2 patients within normal reference values. Only one motor scale; Hammersmith Functional Motor Scale Expanded (HFMSE) showed a negative correlation with AHI (r = -0.132). CONCLUSIONS: Patients affected by SMA type 2 presented significantly higher apnea-hypopnea indices than controls; differences in sleep architecture identified include: decreased total sleep time, increased percentage of stage N1 of NREM sleep as well as increased sleep fragmentation seen in the SMA type 2 group, due to respiratory related arousals. We would like to point out that validated pediatric sleep questionnaires in general population, may not be useful tools when screening for SDB in these patients. This should be taken into consideration in clinical practice and in the elaboration of future clinical guidelines for these patients.

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La enfermedad de Pompe infantil tiene un pronóstico fatal a corto plazo si no se diagnostica precozmente ni se inicia un tratamiento enzimático sustitutivo lo antes posible. Un grupo de especialistas de las diferentes disciplinas involucradas en esta enfermedad ha revisado la evidencia científica actual y ha elaborado por consenso una serie de recomendaciones para el diagnóstico, el tratamiento y el seguimiento de los pacientes. Se recomienda instaurar tratamiento enzimático en todo paciente con enfermedad de Pompe sintomática de comienzo en el primer año de vida, con diagnóstico clínico y enzimático, y una vez conocido el estado CRIM (material inmunológico con reactividad cruzada) (AU)

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known (AU)

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