Atipicidad en el hipotiroidismo congénito: síndrome de Kocher-Debré-Semelaigne. Reporte de caso / Atypicality in congenital hypothyroidism: Kocher-Debré-Semelaigne. Case report

El síndrome de Kocher Debré Semelaigne (SKDS) se describe dentro de las formas clínicas atípicas asociadas al hipotiroidismo congénito (HC) severo, no tratado y de larga evolución, con manifestaciones de pseudohipertrofia muscular difusa y debilidad muscular predominantemente proximal, reversible al reemplazo con tiroxina. Es raro en países con programas de pesquisa neonatal. Objetivo: reportar el caso de un niño con diagnóstico de HC por disembriogenesis (atireosis), que se mantuvo con mal control de la enfermedad durante el primer año de vida y manifestaciones miopáticas desde la etapa neonatal. Resultados: se confirma el diagnóstico a través de estudios específicos, con evidencias de patrones miopáticos característicos. Se logra regresión clínica parcial a los nueve meses de mantener estabilidad de la TSH y las hormonas tiroideas (HT), coincidiendo con la normalización de la enzima de músculo creatinfosfoquinasa (CPK). A los 12 años de seguimiento, mantenía ligera hipertrofia de la musculatura de las extremidades superiores, dorsales y glúteos, a pesar de mantenerse eutiroideo. Conclusiones: la presencia de hipertrofia muscular debe considerarse un dato clínico de sospecha de hipotiroidismo, aun con la implementación de los programas de pesquisa neonatal. Es posible la regresión parcial de la pseudohipertrofia muscular con el restablecimiento de la función tiroidea. Se debe tomar en cuenta en el diagnóstico diferencial de otras miopatías primarias

Kocher-Debré-Semelaigne Syndrome (SKDS) is described within the atypical clinical forms associated with severe, untreated and long-standing congenital hypothyroidism with manifestations of diffuse muscle pseudohypertrophy and predominantly proximal muscle weakness, reversible to replacement with levothyroxine. objective: To report the case of a child with congenital hypothyroidism due to disembriogenesis (atyreosis), who remained with poor control of the disease during the 1st year of life and myopathic manifestations from de neonatal stage. Results: The diagnosis is confirmed through specific studies, with evidence of characteristic myopathic patterns. Partial clinical regression is achieved 9 months after maintaining stability of TSH and thyroid hormones, coinciding with the normalization of the muscle enzyme creatine phosphokinase (CPK). At 12 years of follow-up, he maintained slight hypertrophy of the muscle of the upper extremities, dorsal and buttocks, despite remaining euthyroid. Conclusions: The presence of muscular hypertrophy should be considered a clinical finding of suspected hypothyroidism, even with the implementation of neonatal screening programs. Partial regression of muscle pseudohypertrophy is possible with restoration of thyroid function, and should be taken into account in the differential diagnosis of other primary myopathies

Prevalence of Temporomandibular Disorders and its Correlation with Stress and Salivary Cortisol Levels among Students

ABSTRACT Objective: To evaluate the prevalence of temporomandibular disorders (TMD) in students and to evaluate if any relationship existed between the stress levels, salivary cortisol levels, and TMD. Material and Methods: A total of 348 students, 187 female, and 161 male students, participated in this cross-sectional study. Students were evaluated based on the Research Diagnostic Criteria for TMD. The stress levels were evaluated using the Perceived Stress Scale. The students were divided into the control and TMD groups. Salivary cortisol levels in the salivary samples were analyzed. Results: The prevalence rate of TMDs was 30.7% in the study population. Of the female students, 61% had TMD compared with 46% of male students. Muscle disorders were the most predominant disorder in 14.2% of the students with TMD. The TMD group showed significantly higher salivary cortisol and stress levels than the control group. The TMD group also showed a moderate positive correlation between cortisol and stress levels (p=0.01). Conclusion: The study showed a strong association between salivary cortisol levels, stress, and temporomandibular disorders. Salivary cortisol could be used as a prognostic biomarker for stress while assessing the severity of TMJ problems in stressed individuals.

Late complication of a renal calculus: fistulisation to the psoas muscle, skin and bronchi

ABSTRACTKidney disease presenting with cutaneous fistula is a rare condition. We present a case of a 90-year-old woman with dementia who had no prior urological problems and had a cutaneous fistula in the left lumbar region. A fistulogram and computer tomography examination revealed a large staghorn calculus with signs of xanthogranulomatous pyelonephritis in the left kidney and renal fistulisation to the psoas muscle, skin and bronchi. To our knowledge this is the first report in the literature of coexisting renal fistulisation to the psoas major muscle, skin and bronchi. This report illustrates how computed tomography in combination with fistulography can resolve the diagnostic dilemma that pertains to the complex spread of the disease in cases involving nephrocutaneous fistula. Furthermore, the report shows how a renal calculus, even asymptomatic, can cause a serious medical condition, and highlights the importance of early medical intervention.

Myopathy in patients with Hashimoto´s Disease. / Miopatía en pacientes con enfermedad de Hashimoto

Hashimoto thyroiditis (HT) is an autoimmune disease of the thyroid gland. Patients may present or not a hypothyroid state, and frequently have manifestations of myopathy. The present work was aimed to assess the clinical symptoms and signs of skeletal muscle alterations in HT, describe the muscular pathological changes and relate them to the functional thyroid status and to the autoimmune condition of the patient. Clinical and laboratory studies were performed in ten HT patients and three control subjects (hormonal levels and electromyography). Biopsies from their vastus lateralis of quadriceps femoris muscle were analyzed under light (histochemistry and immunofluorescense) and electron microscopy. All patients showed muscle focal alterations, ranging from moderate to severe atrophy, necrosis, activation of satellite cells, presence of autophagosomes, capillary alterations and macrophage and mast cell infiltration, common to autoimmune diseases. The intensity of clinical signs and symptoms was not related to the morphological muscle findings, the electromyography results, or to the state of the thyroid function. Reactions for immunoglobulin in muscle fibers were positive in 80% of the patients. Fiber type II proportion was increased in all patients, with the exception of those treated with L-thyroxine. In conclusion, autoimmune processes in several of the patients may be associated to the skeletal muscle alterations, independently of the functional state of the thyroid gland; however, fiber II type proportion could have been normalized by L-thyroxine treatment.

La tiroiditis de Hashimoto (TH) es una enfermedad autoinmune de la glándula tiroides. Los pacientes pueden tener o no un estado hipotiroideo y suelen presentar manifestaciones de miopatía. Este trabajo estudia los síntomas y signos clínicos de alteración muscular esquelética que puedan estar presentes en pacientes con TH, describe los cambios patológicos musculares y los relaciona con el estado funcional de la glándula tiroides y la condición autoinmune del paciente. Diez pacientes y tres sujetos controles fueron examinados clínicamente, se midieron los niveles de hormonas tiroideas, se practicó electromiografía y se tomó biopsia del vasto lateral del músculo cuádriceps crural para microscopía de luz (histoquímica e inmunofluorescencia) y microscopía electrónica. Todos los pacientes mostraron alteraciones musculares focales, atrofia moderada a severa, presencia de autofagosomas (glucogenosomas), necrosis, activación de las células satélites, infiltración de macrófagos y mastocitos, así como alteraciones en los capilares, similares a las de las enfermedades autoinmunes. La intensidad de los signos y síntomas no estuvo relacionada con los hallazgos morfológicos en músculo, los resultados de la electromiografía ni con el estado funcional tiroideo. La reacción a las inmunoglobulinas fue positiva en el músculo de 80% de los pacientes. La proporción de fibras musculares tipo II estuvo incrementada en los pacientes excepto en aquellos que recibieron tratamiento con L-tiroxina. En conclusión, el proceso autoinmune hacia el músculo parece asociarse a las alteraciones en éste, independientemente del estado funcional tiroideo, sin embargo, la proporción de las fibras tipo II puede haber sido normalizada por el tratamiento con L-tiroxina.

Rabdomiolisis y miopatía como únicas manifestaciones de hipotiroidismo severo secundario a tiroiditis de Hashimoto / Rhabdomyolysis and myopathy as the only manifestations of severe hypothyroidism secondary to Hashimoto’s thyroiditis

La tiroiditis de Hashimoto constituye la causa más frecuente de hipotiroidismo en las regiones sin deficiencia de yodo, es más frecuente en mujeres y muchas veces tiene asociación familiar. Los síntomas y signos del hipotiroidismo son sistémicos y dependen de la duración e intensidad de la deficiencia de la hormona tiroidea. Las manifestaciones neuromusculares, son excepcionalmente los únicos signos clínicos. Se presenta el caso de un paciente joven con una miopatía severa con rabdomiolisis como la única manifestación de hipotiroidismo severo debido a tiroiditis de Hashimoto.

Hashimoto’s thyroiditis is the most frequent cause of hypothyroidism. In the regions with no iodine deficiency, it is more frequent in women and oftentimes has a familial association. The symptoms and signs of hypothyroidism are systemic and depend on the duration and intensity of the thyroid hormone deficiency. Neuromuscular manifestations are seldom the only symptoms and signs present. We present the case of a young patient with severe myopathy, where rhabdomyolysis was the sole manifestation of severe hypothyroidism secondary to Hashimoto’s thyroiditis.

Two cases of telbivudine-induced myopathy in siblings with chronic hepatitis B

Telbivudine is an L-nucleoside analogue with potent antiviral activity against hepatitis B virus (HBV). Clinical trials have shown that telbivudine has a more potent and sustained antiviral activity with a lower frequency of viral resistance than lamivudine. Although there are several reports concerning the safety profile of telbivudine, most adverse events are described as mild and transient in nature. Here we report two cases of telbivudine-induced myopathy in patients with chronic hepatitis B who were siblings.

Mecanismos de perda muscular da sarcopenia / Mechanisms of muscle wasting in sarcopenia

Cerca de 66 por cento dos pacientes com artrite reumatoide (AR) apresentam significativa perda de massa celular, denominada caquexia reumatoide, predominantemente de músculo esquelético (sarcopenia reumatoide). A sarcopenia é caracterizada por perda de massa muscular associada a prejuízos de função. Pacientes com AR apresentam uma redução significativa na força muscular, causada pela perda de proteínas musculares, alterando sua funcionalidade. As diversas condições que levam à perda de massa muscular envolvem distintas cascatas de sinalização intracelular, que podem levar: (i) à morte celular programada (apoptose); (ii) ao aumento da degradação proteica, por meio de autofagia, de proteases dependentes de cálcio (calpaínas e caspases) e do sistema proteossomo; e (iii) à diminuição da ativação das células-satélite responsáveis pela regeneração muscular. Este artigo tem como objetivo revisar esses mecanismos gerais de sarcopenia e seu envolvimento na AR. O melhor conhecimento desses mecanismos pode levar ao desenvolvimento de terapias inovadoras para essa debilitante complicação.

Approximately 66 percent of the patients with rheumatoid arthritis (RA) have significant loss of cell mass (rheumatoid cachexia), mainly of skeletal muscle (rheumatoid sarcopenia). Sarcopenia is defined as muscle wasting associated with functional impairment. Patients with RA possess significant reduction in muscle strength, caused by muscle protein wasting, and loss of functionality. Various conditions leading to muscle wasting involve different pathways of intracellular signaling that trigger: (i) programmed cell death (apoptosis); (ii) increased protein degradation through autophagy, calcium-dependent proteases (calpains and caspases), and proteasome system; (iii) decreased satellite cell activation, responsible for muscle regeneration. This article aimed at reviewing these general mechanisms of sarcopenia and their involvement in RA. Greater knowledge of these mechanisms may lead to the development of innovative therapies to this important comorbidity.

Amiloidose-mieloma múltiplo apresentando-se como pseudomiopatia / Multiple myeloma-amyloidosis presenting as pseudomyopathy

Amiloidose é uma designação genérica para se referir à deposição de fibrilas amiloides nos tecidos corporais. Ela apresenta-se, frequentemente, após os 40 anos de idade, com envolvimento localizado ou sistêmico, associada a mieloma múltiplo ou a doenças inflamatórias crônicas, podendo mimetizar diferentes síndromes reumatológicas. Relata-se o caso de uma paciente com amiloidose associada a mieloma múltiplo cuja apresentação inicial simulava miopatia.

Amyloidosis is a generic term that refers to the deposition of amyloid fibrils in bodily tissues. Its onset is usually after 40 years of age, with localized or systemic involvement associated with multiple myeloma or chronic inflammatory diseases, and can mimic various rheumatic syndromes. We report the case of a patient with amyloidosis associated with multiple myeloma, showing clinical characteristics of pseudomyopathy.

Envolvimento das musculaturas esquelética e cardíaca na esclerose sistêmica / Skeletal and cardiac muscles involvement in systemic sclerosis

Pacientes com Esclerose Sistêmica (ES) podem apresentar envolvimento muscular na forma de miosite ou miopatianão inflamatória. É verificada também associação entre acometimento muscular e disfunção ventricular esquerda (DVE) em pacientes com ES, o que lhes confere pior prognóstico. Avaliamos 87 pacientes do Hospital de Clínicas da Universidade Federal do Paraná, com diagnóstico de ES, quanto à presença de manifestações da musculatura esquelética e a relação destas com DVE. Verificamos uma prevalência de 42,5 por cento de acometimento muscular nos pacientes avaliados, observando uma correlação positiva com a forma difusa da doença. Afastadas outras causas de DVE, três dos quatro pacientes com fração de ejeção abaixo do valor de normalidade apresentaram alteração de força muscular, atrofia e/ou elevação de enzima creatinofosfoquinase sérica (CPK).

Patients with systemic sclerosis (SSc) can have muscle involvement in the form of myositis or non-infl ammatory myopathy. The muscle involvement can be associated with left ventricular dysfunction (LVD) in patients with SSc, resulting in worse prognosis. Eighty-seven patients of the Hospital de Clínicas of the Universidade Federal do Paraná, diagnosed with SSc, were assessed regarding the presence of skeletal muscle manifestations and their relation with LVD. A 42.5 percent prevalence of muscle involvement was observed in the patients studied, as well as a positive correlation with the diffuse form of the disease. Excluding other causes of LVD, three of the four patients with ejection fraction below the normal reference value had alteration of the muscle strength, atrophy and/or serum creatine phosphokinase (CPK) elevation.

Miopatía grave de curso agudo en un paciente con hipotiroidismo reciente y asintomático / Severe myopathy in a hypothyroid patient: report of one case

Diffuse muscular involvement is common in hypothyroidism and ranges from asymptomatic elevation of creatine kinase levels to severe muscle weakness and rhabdomyolysis. We report a 74 years old male that developed a progressive muscle weakness without muscle pain, during the course of an hypothyroidism secondary to a silent thyroiditis. Laboratory showed a TSH of 149 uUI/ml, a thyroxin of 1.5 ug/dl a free thyroxin of less than 0.15 ng/dl and a creatine kinase of 4345 U/l. Treatment with levothyroxine rapidly reverted the muscular alterations.

Recurrent diabetic myonecrosis: A rare complication of a common disease.

Spontaneous aseptic diabetic muscle infarction (DMI) is one of the rare complications of diabetes. We report a case of type 2 diabetes mellitus with advanced microvascular complications presenting with severe muscular pain. She was diagnosed as DMI on the basis of clinical presentation, radiological and histopathological investigations. She was managed conservatively. During 18 months of follow up, she had good improvement but subsequently other muscle groups were involved suggesting recurrent DMI.

Bases fisiopatológicas del entrenamiento muscular en pacientes con enfermedad pulmonar obstructiva crónica / Pathophysiological bases of muscular training in patients with chronic obstructive pulmonary disease

Dyspnea and decreased exercise capacity are the main factors that limit the daily living activities in patients with chronic respiratory diseases. The cardinal symptoms limiting exercise capacity in most patients with chronic obstructive pulmonary disease (COPD) are dyspnea and fatigue, which could be caused by alveolar ventilation and gas exchange disturbances, skeletal muscle dysfunction and/or cardiovascular failure. Anxiety, lack of motivation and depression were also associated with reduced exercise capacity, probably affecting the perception of symptoms. The relationship between psychological status and mood disorders in patients with COPD and exercise tolerance is complex and not yet fully understood. The origin of the exercise capacity limitation in COPD patients is multifactorial, so the separation of the variables involved for academic purposes is not always feasible. The pathogenic mechanisms may interact in complex ways, as an example, muscle deconditioning and hypoxemia can increase alveolar ventilation causing exercise limitation. Therefore, physical training and supplemental oxygen can reduce ventilatory limitation during exercise without changing lung function and maximum ventilatory capacity. The analysis of these factors could potentially identify reversible conditions that can improve the exercise performance and quality of life ofpatients with COPD, such as hypoxemia, bronchospasm, heart failure, arrhythmias, musculoskeletal dysfunction and myocardial ischemia. This review examines the principal mechanisms contributing to physical activity limitation in patients with COPD: alveolar ventilation and gas exchange abnormalities, cardiovascular and musculoskeletal system dysfunction, and respiratory muscles dysfunction.

La disnea y la disminución de la capacidad de realizar ejercicio son los principales factores que limitan las actividades de la vida diaria en pacientes con enfermedades respiratorias crónicas. Los síntomas cardinales que limitan la capacidad de ejercicio en la mayoría de los pacientes con enfermedad pulmonar obstructiva crónica (EPOC) son la disnea y/o fatigabilidad, los cuales pueden ser ocasionados por trastornos de la ventilación alveolar e intercambio gaseoso, disfunción de los músculos esqueléticos y/o falla cardiovascular. La ansiedad, falta de motivación y depresión también han sido asociadas a una menor capacidad de realizar ejercicio, probablemente afectando la percepción de los síntomas. La relación entre el estado psicológico y los trastornos del ánimo en pacientes con EPOC y la tolerancia al ejercicio es compleja y aún no ha sido completamente dilucidada. El origen de la limitación de la capacidad de ejercicio en pacientes con EPOC es multifactorial, por lo cual la separación de las variables involucradas con fines académicos no siempre es factible realizarlo en los pacientes. Los mecanismos patogénicos pueden relacionarse en forma compleja, a modo de ejemplo, el desacondicionamiento físico y la hipoxemia pueden contribuir a aumentar la ventilación alveolar ocasionando limitación del ejercicio de causa ventilatoria. Por lo tanto, el entrenamiento físico y el suplemento de oxígeno pueden reducir la limitación ventilatoria durante el ejercicio sin modificar la función pulmonar o la capacidad ventilatoria máxima. El análisis de los factores limitantes de la capacidad de ejercicio permite identificar trastornos potencialmente reversibles que pueden mejorar la calidad de vida de los enfermos, tales como la hipoxemia, broncoespasmo, insuficiencia cardiaca, arritmias, disfunción musculoesquelética y/o isquemia miocárdica. En esta revisión se examinan los principales mecanismos que contribuyen a la limitación de la actividad física en pacientes con EPOC:...

Are we ignoring diabetic disability: A cross sectional study of diabetic myopathy.

Background: The complications associated with type 2 Diabetes Mellitus (DM) may cause functional impairment in older people. Recently it has been proved that motor dysfunction in the form of skeletal muscle dysfunction does occur in type II DM. However very few studies have assessed the upper limb skeletal muscle dysfunction. Objectives: The study was aimed to assess the hand grip strength, endurance in type 2 DM patients and compare the same with age matched healthy controls. We also correlated glycosylated Hb and duration of illness with the hand grip strength and endurance in the patients. Materials and Methods: Hand grip dynamometer was used to measure the hand grip strength and endurance in sixty diagnosed patients of type II DM. Similar tests were performed in age matched healthy controls. Blood samples were collected for blood glucose fasting, postprandial levels and Hb1AC in both the groups. Comparisons between patients and controls, and correlations were done by applying suitable tests. Results: The hand grip muscle strength and endurance in type II DM patients were significantly lower as compared to the normal controls (P < 0.05, P < 0.001). There was no correlation between the hand grip muscle strength and endurance with HbA1c and the duration of the disease in the patients of type II DM (P > 0.05). Conclusions: The present study shows that type II DM patients suffer from skeletal muscle dysfunction in the form of reduced hand grip strength and endurance. Hence the treating Physician should not be ignorant about these disabilities. In addition to the strict measures to control the blood glucose levels, interventions to improve the muscle mass and strength in these patients should be undertaken.

A Case of Sheehan's Syndrome that Manifested as Bilateral Ptosis

Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.

Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype

Carnitine-acylcarnitine translocase [CACT] deficiency [McKusick 212138] is a rare life threatening disorder characterized by hypoketotic hypoglycemia, hyperammonemia, encephalopathy, cardiomyopathy hepatopathy, and myopathy. Here, we present a detailed clinical course of 3 Saudi siblings with a severe phenotype. The third patient was described in more detail. Early medical intervention in the form of 25% dextrose intravenous infusion and carnitine supplement followed by a gradual introduction of a high carbohydrate low fat special formula resulted in a good clinical and biochemical response to the treatment in our patient. However, early nephrocalcinosis, severe hypotonia, and subsequently intravascular cerebral accident could not be prevented. He died at 18 months of age as a result of metabolic decompensation. This suggests that CACT deficiency is still a lethal disorder even with an early and aggressive medical intervention

Daño y reparación muscular por sobrecarga / Repair of muscle damage due to overload

El daño muscular inducido por sobrecarga es frecuente. Los estudios de estructura y función han configurado dos vertientes que intentan aclarar sus mecanismos. La primera se entiende con la generación de excesivas tensiones en elongación por estrés mecánico, reconocidas como las responsables del daño estructural del músculo, involucrando a proteínas tales como Titina, Desmina y Distrofina. La segunda provocada a partir de la alteración en la regulación intracelular del calcio por estrés metabólico, activando proteasas como Calpaína 3, fosfolipasas y especies reactivas de oxígeno. Una vez gatillados estos procesos, se inician una serie de eventos que inducen la reparación con la activación de factores de transcripción, miogénicos y de respuesta al estrés, mientras que la regeneración se caracteriza por la síntesis y la remodelación tisular.

Muscle damage by overload is frequent. Structural and functional studies oriented to clarify the mechanisms involved in this process have raised two possible and complementary explanations. The first one refers to the generation of a large tension by mechanical stress, wich could be responsible of the structural damage of the muscle and involve proteins such as Titina, Desmina and Dystrophin. The second one is originated by changes in the regulation of intracellular calcium concentration as a consequence of the metabolic stress of the fibre and subsequent activation of proteases like Calpain 3, phospholipases and reactive oxygen species. Once triggered these processes, are initiated a series of events that induce the repair with activation transcription, miogenic and stress factors, while regeneration is characterized the synthesis an tissue remodelation.

Síndrome hipotónico del recién nacido / Hypotonic syndrome in the newborn

Background: The Newborn Hypotonic Syndrome (NHS) is a clinical entity that presents up to 28 days after birth. The main symptom is a significant decrease in muscular tone, but its severity is determined by the lack of muscular strength. NHS is a relatively frequent entity, so it becomes an important diagnosis problem. There is few information in literature regarding its incidence. Method: Retrospective study performed between May 2000 - April 2006, including patients with diagnosis of NHS in a Neonatal Intesive Care Unit. Results: 2 158 newborns, of which 113 (5.2 percent) had NHS. 83 percent of cases were attributed to central causes, such as hipoxic-isquemic encephalopathy (49 percent) and genetic disorders (15 percent). 17 percent of cases corresponded to peripheral causes, including hypermagnesemia (68 percent) and myopathic diseases (21 percent). Conclusions: 1) NHS is a relatively frequent clinical entity; 2) Central causes are the most prevalent; 3) It is possible to study the etiology of NHS with a systematic approach.

Introducción: El síndrome hipotónico del recién nacido (SHRN) es un cuadro clínico que se presenta hasta los 28 días de vida extrauterina. Su síntoma definitorio es la disminución significativa en tono muscular, pero su gravedad se relaciona a asociación a falta de fuerzas. Es un cuadro aparentemente poco frecuente en este grupo etáreo, pero que plantea un problema diagnóstico importante. Existe escasa información en la literatura respecto a su frecuencia real. Objetivo: Evaluar la incidencia de SHRN, su etiología y aprobación diagnóstica. Método: Estudio retrospectivo con revisión de fichas clínicas, desde mayo 2000 a abril 2006, incluyendo pacientes ingresados con diagnóstico de SHRN a unidad de intermedio-intensivo de servicio de recién-nacidos de un hospital universitario (SRNU). Resultados: El número total de RN ingresados a SRNU fue 2158, en 5,2 por ciento (113) el motivo de ingreso, principal o secundario, correspondió a SHRN. Del total de SHRN, 83 por ciento correspondió a causas centrales, destacando encefalopatía hipóxico-isquemica (ehi) (49 por ciento) y genetopatía (15 por ciento). Las causas periféricas correspondieron a 17 por ciento, destacando hipermagnesemia (68 por ciento) y miopatías (21 por ciento). Conclusiones: Con los datos obtenidos, es posible concluir para este estudio: 1) El SHRN es una entidad clínica relativamente frecuente; 2) Las causas centrales son las más frecuentes; 3) Es posible estudio escalonado orientado a encontrar etiología específica del SHRN.