Guillain-Barré syndrome in patients with SARS-CoV-2 infection. Report of three cases / Síndrome de Guillain-Barré en pacientes con infección por SARS-CoV-2. Reporte de tres casos

ABSTRACT Several cases of Guillain Barre Syndrome (GBS) associated with SARS-CoV-2 have been published, most being acute inflammatory demyelinating polyradiculoneuropathy. Between April and December 2020, 1,499 cases of SARS-CoV-2 infection were admitted to Hospital del Salvador, in Santiago, Chile, serving a population of 521,920 adults. In the same period, seven cases of GBS were admitted. Three females had a demyelinated type of GBS associated with SARS-CoV-2 infection. All three presented with progressive flaccid symmetrical areflexic weakness with inability to walk, one needed intubation and mechanical ventilation due to SARS-CoV2 infection. All had a favorable, rapid response to intravenous immunoglobulin. In two patients, the onset of GBS was almost concomitant with SARS-CoV-2 infection. A causal relationship between SARS-CoV-2 and GBS has been questioned since no increase of GBS has occurred during the pandemic. However, a rise in GBS associated with SARS-CoV-2 infection could be hidden due to a general decrease of GBS due to the decrease of all other infections. Lack of reporting due to the pandemic could be an added factor.

Se han publicado varios casos de síndrome de Guillain Barre (SGB) asociados con el SARS-CoV-2, la mayoría de los cuales son polirradiculoneuropatía desmielinizante inflamatoria aguda. Entre abril y diciembre de 2020, se ingresaron 1.499 casos de infección por SARS-CoV-2 en el Hospital del Salvador de Santiago de Chile, que atiende a una población de 521.920 adultos. Durante el mismo período se admitieron siete casos de SGB. Tres pacientes de sexo femenino con SGB tipo desmielinizante asociado a una infección por SARS-CoV-2. Las tres presentaron debilidad simétrica, flácida y arrefléctica progresiva, con incapacidad para caminar, una necesitó intubación y ventilación mecánica debido a la infección por SARS-CoV2. Todas tuvieron una respuesta rápida y favorable a la inmunoglobulina intravenosa. En dos pacientes, la aparición de SGB fue casi concomitante con la infección por SARS-CoV-2. Una relación causal entre el SARS-CoV-2 y SGB ha sido cuestionada ya que no se ha producido ningún aumento de SGB durante la pandemia. Sin embargo, un aumento de SGB asociado con la infección por SARS-CoV-2 podría ocultarse en una disminución general de SGB debido a la disminución de todas las demás infecciones asociadas a este. La sub-notificación debido a la dimensión de la pandemia podría ser también un factor.

Atrofia monomiélica distal de extremidad superior. Caso clínico

Monomelic amyotrophy, also known as Hirayama disease, is a rare lower motor neuron syndrome due to localized lower motor neuron loss in the spinal cord at the cervical level. Clinically, monomelic amyotrophy is defined by the insidious onset of unilateral atrophy and weakness involving the hand and forearm, typically beginning in the second or third decade of life. We report 19-year-old man with a two years history of slowly progressive unilateral weakness and atrophy of his right-hand muscles. Neurological examination revealed weakness and atrophy in his intrinsic hand muscles, with sparing of the abductor pollicis brevis muscle. Also, mild atrophy of the ulnar aspect of the forearm was detected with sparing of the brachioradialis muscle. Electromyography showed active and chronic neurogenic changes affecting C8 and T1 myotomes, with mild chronic neurogenic changes on C7 myotome. Magnetic resonance imaging of his cervical spine revealed spinal cord atrophy involving C5 to C7 segments, associated with forward displacement of the posterior wall of the dura in cervical spine flexion. The clinical features associated with the imaging and electrophysiological findings support the diagnosis of monomelic amyotrophy.

Síndrome de persona rígida confundido por trastorno conversivo: un error común. caso clínico / Stiff-person syndrome mistaken for conversive disorder: a common error

Stiff-person syndrome is characterized by persistent muscle spasms, involving agonist and antagonist muscles simultaneously, starting in the lower limbs and trunk. It tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that later become continuous and usually painful. Minor sensory stimuli, such as noise or light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. We present a case that for two years was diagnosed and treated as a conversion disorder associated with depression. After two years she was admitted to another hospital with an unmistakable picture of stiff-person syndrome with hypertrophy and rigidity of lower limb muscles, compatible electrophysiology and positive anti-GAD antibodies. She had autoimmune hypothyroidism, that should have raised the suspicion of stiff-person syndrome earlier. She responded to intravenous immunoglobulin and mycophenolate mofetil and and to tranquilizers that have muscle relaxant properties.

Meningitis crónica autoinmune secundaria a meningitis aguda por neumococo: caso clínico / Autoimmune chronic meningitis secondary to pneumococcal meningitis: report of one case

Pneumococcal meningitis produces several inflammatory disorders in susceptible subjects. A worsening of meningitis can occur on the fourth day of evolution in relation with the withdrawal of steroids. Other complications include the development of inflammatory signs in the post-acute stage of infection associated with disseminated vasculitis of the cerebral blood vessels and, even later, an autoimmune chronic meningitis. All these inflammatory complications are well controlled with the use of steroids. We report a 53-year-old woman with pneumococcal meningitis that had a good response to treatment with antibiotics and steroids. On the four day, after the steroids were discontinued, she complained of headache, became confused, and had an abnormal cerebrospinal fluid (CSF), report CT angiography showed signs of arteritis. She improved when the steroids were re-started. She was discharged in good condition but after slow tapering of the steroids over a four-month period she had a relapse of all her symptoms and had a gait disturbance. On readmission, she had an inflammatory CSF, there were no signs of infection and the cerebral MRI showed meningeal thickening with ventricular space enlargement. She improved again with steroids and she is now well on high-dose steroids but deteriorates each time the steroids are stopped. She experienced both acute and sub-acute inflammatory responses and finally developed a chronic meningitis responsive, and is dependent on steroids.

Xantomatosis cerebrotendinosa sin xantomas tendíneos: caso clínico / Cerebrotendinous xanthomatosis: report of one case

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Cerebral magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral white matter, dentate nuclei and spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1 gene. There is considerable variation in clinical characteristics and age of onset of this disease, including absence of tendon xanthomas, delaying the diagnosis. Early recognition and chronic chenodeoxycholic acid therapy can improve outcome and quality of life.

Miastenia gravis y su asociación con trastornos linfoproliferativos: casos clínicos / Myasthenia gravis and its association with lymphoproliferative disorders: a case series

Myasthenia gravis (MG) is a rare autoimmune disease of the neuromuscular junction. It is characterized by variable weakness and excessive fatigability of skeletal muscles. In the last few years, numerous reports have been published showing the association between autoimmune diseases, such as systemic erythematous lupus or rheumatoid arthritis, with lymphoid neoplasias. The association between MG and lymphoid neoplasia seems to be less frequent. To analyze this association we reviewed the MG patients in the Department of Neurology, Hospital Salvador of Santiago, Chile. During a three-year period we identified four patients who developed different lymphoproliferative disorders: two with B-cell lymphoma, one with chronic lymphocytic leukaemia and one plasmacytoma with an associated amyloidosis. The MG was generalized but mild, all cases classified as type IIa according to the definition proposed by the MG Foundation of America. The neoplasia appeared two to 36 years after the onset of MG. These cases provide additional evidence of the association between MG and lymphoproliferative disorders.

Distrofia muscular facioescapulohumeral en Chile: presentación de serie en hospital de referencia terciario / Facioscapulohumeral muscular dystrophy: Report of seven patients

Background: Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15% of patients become wheelchair bound in the course of their life. It is a hereditary autosomal dominant disease with high (95%) penetrance by the age of 20, but with variable degree of phenotypic expression even in the same family group. Symptoms frequently start in the second decade of life, with facial and scapular weakness. Aim: To report the clinical features of seven patients with the disease, seen at a public hospital. Material and Methods: Analysis of seven patients with genetic study seen in a public Hospital in Santiago. Results: The age of patients fluctuated from 18 to 61 years and four were females. The mean age at onset of symptoms was 29 years and four had a family history of the disease. The usual presenting complaint was arm or shoulder asymmetric weakness. Four patients had bone pain. Facial involvement was present in four. A genetic study was done in five patients, the other two patients were relatives, confirming the contraction or lower number of repetitions in D4Z4 region. After 12 years of follow up only 2 patients older than 60 years cannot work and one female patients is in a semi dependent state at the age of 30. Conclusions: The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures. The variability in the phenotypic expression in a similar genetic defect is discussed and the genetic or epigenetic mechanisms of this muscular dystrophy are described.

Características epidemiológicas del síndrome de Guillain-Barré en población chilena: estudio hospitalario en un período de 7 años / Clinical features of Guillain-Barré syndrome in 41 patients admitted to a public hospital

Background: Guillain-Barré syndrome (GBS) is the commonest cause of acute flaccid paralysis worldwide, with an incidence of 0.6-4 per 100.000 inhabitants per year. It affects all age groups and carries an incapacity burden of up to 20%. Aim: To describe the features of GBS in adult Chilean patients admitted to a tertiary care hospital. Material and Methods: Review of medical records of 41 patients aged 17 to 81 years (30 males) admitted to a public hospital with the diagnosis of GBS between 2003 and 2009. According to clinical and electrophysiological criteria, the patients were classified into different varieties of GBS. Results: The incidence of GBS was higher in males (2.7:1) and the demyelinated GBS variety was found in 66% of cases. According to the Hughes’ disability score, patients treated with plasmapheresis, showed non-statistically significant better outcomes than those treated with intravenous immunoglobulin. Conclusions: In this group of patients the demyelinated variety of GBS was more common than the axonal type. Although not statistically significant, the better response to plasmapheresis is encouraging and should prompt a controlled study.