Modelo intensivo de reabilitação na síndrome de Guillain-Barré: um relato de caso / Intensive rehabilitation model in Guillain-Barre syndrome: a case report

Existem poucas informações na literatura médica sobre a reabilitação de pacientes com a Síndrome de Guillain-Barré (SGB). Há estudos clínicos que demonstram a eficácia do programa de reabilitação por meio de uma equipe interdisciplinar, porém sem protocolos bem definidos e apenas realizados em regime ambulatorial. Este relato de caso tem como objetivo descrever a evolução de um paciente com SGB, durante o programa de reabilitação multiprofissional intensivo em regime de internação, discutindo as possibilidades terapêuticas para reabilitação da doença

There is little information in the medical literature on the rehabilitation of patients with GuillainBarre Syndrome (GBS). There are clinical studies that demonstrate the effectiveness of a rehabilitation program using an interdisciplinary team, but without well-defined protocols and only performed on an outpatient basis. This case report aims to describe the evolution of a patient with GBS during the intensive multidisciplinary inpatient rehabilitation program, discussing the therapeutic possibilities for rehabilitation of the disease

Síndrome de enclaustramiento: presentación de un caso / Locked-in syndrome: case report

El síndrome de enclaustramiento (Locked-in syndrome) es una entidad neurológica altamente discapacitante, producida por lesiones en la porción ventral de la protuberancia; de etiología principalmente vascular. Clínicamente se manifiesta por tetraplejía, anartria, preservación de la conciencia y capacidad de expresarse mediante movimientos oculares. Presentamos el caso de un paciente masculino de 33 años, transferido de otra institución de salud con un cuadro clínico progresivo y poco específico, caracterizado principalmente por deterioro del estado de conciencia, dificultad respiratoria, cefalea de intensidad moderada y vómitos. Mediante pruebas de imágenes se comprobó la presencia de un área de isquemia en la región irrigada por el sistema vertebrobasilar. Se realizó un enfoque diagnóstico y terapéutico invasivo de orden endovascular.

Locked-in syndrome is a highly disabling neurological entity, due to lesions in the ventral portion of the pons, mainly vascular etiology. Clinical features are quiadriplegia, anarthria, preservation of consciousness and the ability to express by ocular movements. We shown a case of a 33 years-old man, who was transfer from another institution with a progressive and poorly specific clinical manifestations, mainly characterized by diminishing of consciousness, breathing difficulty, headache and vomiting, with the presumptive diagnosis of central nervous system infection. We performed image diagnostic tests and they shown and ischemic feature in the region of the vertebrobasilar irrigation. It was perform an endovascular diagnostic therapeutic approach.

Hallazgo por neuroimaginología de microangiopatía cerebral retiniana con calcificaciones y quistes / Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts

La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos de esta condición, especialmente en adultos, en quienes la incidencia es baja. Los hallazgos por medio de neuroimágenes son característicos, con calcificaciones bilaterales y múltiples formaciones quísticas. El propósito de este artículo fue hacer una revisión bibliográfica e ilustrar dos casos cuyo diagnóstico fue posible con la ayuda de neuroimágenes.

Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts. The purpose of this article was to do a literature survey and illustrate two cases diagnosed with the aid of neuroimaging.

Guillain-Barré syndrome and its variants: a case of acute motor-sensory axonal neuropathy in Jamaica / Síndrome de Guillain-Barré y sus variantes: un caso de la neuropatía axonal sensorial motor aguda en Jamaica

This paper reports a case of a Jamaican young woman who experienced flaccid quadriparesis and bulbar weakness over a three-week period after a gastrointestinal illness. Nerve conduction studies confirmed an axonal type neuropathy consistent with the acute motor-sensory axonal neuropathy variant of the Guillain-Barré syndrome. Recovery, although evident, was slow and was augmented after a course of intravenous immunoglobulin. The patient was discharged from hospital after three months but was re-admitted one week later and eventually succumbed to complications of the illness. This case serves as a reminder that Guillain-Barré syndrome is now the most common cause of acute flaccid paralysis and should be considered early in all patients presenting with flaccid quadriparesis.

El presenta trabajo reporta el caso de una joven jamaicana que experimentó debilidad bulbar y cuadriparesiaflácida por un período de tres semanas después de una enfermedad gastrointestinal. Los estudios de conducción nerviosa confirmaron una neuropatía de tipo axonal en correspondencia con la variante de la neuropatía axonal sensorial motora aguda del síndrome de Guillain-Barré. La recuperación, aunque evidente, fue lenta, y aumentó después de que se le aplicara inmunoglobulina intravenosa. La paciente fue dada de alta del hospital después de tres meses, pero fue ingresada de nuevo una semana más tarde, falleciendo finalmente a causa de las complicaciones de la enfermedad. Este caso sirve como recordatorio de que el síndrome de Guillain-Barré es ahora la causa más común de parálisis flácida aguda, y debe tenerse en cuenta temprano en todos los pacientes que acuden con cuadriparesia flácida.

Mielinolisis central pontina en trasplante hepático / Central pontine myelinolysis after liver transplantation. Report of five cases

Background: Central Pontine Myelinolysis (CPM) is the most severe neurological complication after liver transplantation and apparently is not related to changes in osmolarity. Aim: To report five transplanted patients with CPM. Patients and Methods: In a series of 27 patients subjected to liver transplantation between 2005 and 2008, we found five patients who developed CPM. Results: All patients presented a severe hepatic encephalopathy. In the absence of alterations in osmolality, they developed, between the second to seventh day after transplantation, a central quadriplegia, hyperreflexia and Babinski sign, with preservation of sensorium. Magnetic resonance imaging showed demyelination of the motor pathway only in the protuberance. Motor recovery first began in the fingers and hands, followed by forearms, toes, feet, arms and finally the legs, defining a somatotopic recovery of the cortico-spinal pathway. Conclusions: This form of regaining motility shows that the selective involvement of the pyramidal tract in CPM, is according to its location in the pons and suggests a local entrapment. It is due to the structural rigidity of the protuberance that limits the expansive requirements of cytotoxic and vasogenic edema, and only affects the long fibers of cortico-spinal tracts, sensitized by encephalopathy. The entrapment syndromes generally preserve the axons, injure myelin and have no inflammatory reactions.

Locked-in syndrome: A rare manifestation of pediatric stroke.

Locked-in syndrome is characterized by upper motor neuron quadriplegia, paralysis of lower cranial nerves, bilateral horizontal gaze palsy and anarthria, with preserved consciousness. It is due to a ventral pontine lesion following a basilar artery occlusion. We report the first Indian case report of locked-in syndrome, a 10-year old girl in whom the syndome was preceded by a ‘herald hemiparesis’. Although the exact etiology for the basilar artery occlusion could not be determined, treatment with low molecular weight heparin and warfarin was followed by partial recovery.

novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family

Argininemia is a rare autosomal recessive metabolic disorder caused by a deficiency in the arginase enzyme, which is the final enzyme in the urea cycle and responsible for the hydrolysis of arginine to urea and ornithine. The disease becomes symptomatic during childhood and is characterized by progressive spastic quadriplegia, progressive mental impairment, growth retardation, and periodic episodes of hyperammonemia. At least 19 distinct mutations in the ARG1 gene have been identified indicating the molecular heterogeneity of this condition. We report a homozygous novel mutation [c.93 delG] in the ARG1 gene from 3 affected children of a Pakistani family living in the United Arab Emirates. The mutation is expected to lead to a frame shift after the thirtieth residue and a stop codon at residue 44 [p.T30fsX14]. Therefore, this mutation is expected to result in complete loss-of-function of the arginase enzyme and therefore is the mostly likely cause of argininemia in this family

Congenital irreducible atlantoaxial dislocation associated with cervical intramedullary astrocytoma causing progressive spastic quadriparesis.

Simultaneous presence of congenital irreducible atlantoaxial dislocation (AAD) and cervical intramedullary astrocytoma has not been previously described and may cause disabling myelopathy. This 55-year-old lady presented with suboccipital pain, spastic quadriparesis, Lhermitte's phenomenon and sphincteric disturbances. Lateral radiographs and magnetic resonance imaging showed irreducible AAD, occipitalized atlas, C2-3 fusion, and,an intramedullary tumor from C2-5 level iso-to-hypointense, non-enhancing, except in a small segment in the dorsal C2 level. A suboccipital craniectomy with C2-5 laminectomy revealed a greyish-white tenacious tumor. The tumor was decompressed using a C2-5 midline myelotomy and duroplasty. An occipitocervical lateral mass fixation was performed. Histopathology revealed a low-grade astrocytoma. At three-month follow-up, her spasticity had decreased and quadriparesis and sphincteric disturbances were persisting. Postoperative lateral radiographs and intrathecal contrast CT scan showed a stable occipitocervical construct. Thus, the suboccipital craniectomy and laminectomy with midline myelotomy and duroplasty facilitated space for progressively expanding intramedullary astrocytoma with irreducible AAD; the lateral mass fixation provided stability at the craniovertebral junction.

Central pontine myelinolysis due to rapid correction of hyponatremia induced by excessive water intake

We report a 25-year-old female with a recent diagnosis of gastric B-cell lymphoma based on imaging and pathological findings. She was discharged against medical advice after it was recommended to her, by an "alternative medicine practitioner," to restrict her diet to excessive ingestion of the "Holy water Zamzam" [natural well water in Makkah]. She presented back with altered level of awareness and severe, new-onset hyponatremia. The hyponatremia was corrected rapidly and her condition improved. Six days later, she developed the classical pyramidal and extrapyramidal features of central pontine myelinolysis, documented by MRI. The patient succumbed to her original disease 3 months later

Lesión de médula espinal y medicina regenerativa: [revisión] / Spinal cord injury and regenerative medicine: [review]

La lesión medular (LM) es un problema que afecta sobre todo a la población en edad laboral y, por lo tanto, sus repercusiones rebasan el ámbito familiar. La LM es irreversible para la mitad de las víctimas y en la actualidad los tratamientos existentes consisten en la asistencia y la estabilización espinal. Con el reconocimiento de la existencia de células madre (CM), el tratamiento de la LM ha recibido otro enfoque. Las CM se encargan de la renovación de los tejidos durante la vida del individuo y su reparación en caso de lesión. Las CM más atractivas desde el punto de vista terapéutico son las capaces de generar diversos tejidos, obtenibles con facilidad, y cuya manipulación es aceptable en términos éticos. En este artículo se presentan algunos de los estudios realizados con CM de diversos orígenes y su aplicación al tratamiento de la LM.

Spinal cord injury (SCI) is a trauma problem striking mainly working age adults, therefore affecting society beyond the victim’s family circle. Most of the victims of SCI will never recover; therapy for this type of injury consists basically on spinal cord support and stabilization. With the discovery of stem cells (SC), SCI treatment has been given another chance. Stem cells are responsible for tissue renewal throughout the individual’s life, as well as tissue repair when needed. From the therapeutic point of view, the most appealing SC are those capable of generating a variety of tissues, those easily harvested, and finally, those ethically unquestioned. This article summarizes some studies carried with SC of various origins and their application to SCI treatment.

Central myelinolysis in a patient with hyponatraemia

We present a case of a 50-year old man who developed mutism and a flaccid quadriparesis within 48 hours of presentation to hospital with severe hyponatraemia. A diagnosis of central pontine myelinolysis was made based on the clinical features and typical appearances on magnetic resonance imaging.

Tetraparesis secondary to cervical ossification of the posterior longitudinal ligament: case report

Ossification of the posterior longitudinal ligament (OPLL) is a rare cause of myelopathy in non-Oriental populations and relatively unrecognized by general practitioners. A case of an Afro-Brazilian 54-years-old woman presenting with tetraparesis due to cervical OPLL is presented. Emphasis is made for the inclusion of OPLL in the differential diagnosis of compressive cervical myelopathy.

Ossificação do ligamento longitudinal posterior (OLLP) é causa rara de mielopatia na população não Oriental e relativamente subdiagnosticada por clínicos gerais. Relata-se um caso de mulher de 54 anos descendência Afro-Brasileira com tetraparesia associada a OLLP cervical. Enfatiza-se a inclusão da OLLP como diagnóstico diferencial de mielopatia cervical compressiva.

Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.

Secondary Sjogren's syndrome and scleroderma presenting as renal tubular acidosis.

We report a case of distal renal tubular acidosis in a twenty year old female patient of scleroderma and secondary Sjogren's syndrome. This patient presented with two episodes of flaccid quadriparesis which were associated with hypokalaemia and was later found to have an underlying scleroderma with secondary Sjogren's syndrome.

Etiological spectrum of non-traumatic myelopathies: experience from a tertiary care centre.

AIM: This study aimed to identify the clinical and radiological profile of non-traumatic myelopathies and various etiologies associated with them. MATERIAL AND METHODS: Two hundred and four patients of non-traumatic myelopathy were prospectively studied in different wards of Sir Sundar Lal Hospital, Institute of Medical Sciences, Banaras Hindu University, Varanasi, from September 2002 to March2004. Patients underwent a detailed clinical evaluation followed by laboratory investigation and neuroimaging studies. RESULTS: Among 204 patients of non-traumatic myelopathy, 108 patients presented with paraplegia and 96 patients with quadriplegia. Tuberculosis was the commonest cause of compression paraplegia in this series and was observed in 42 cases (33.33%) while quadriplegia was seen in only 3 cases (2.38%). In the present study, acute transverse myelitis formed the major bulk of non-compressive myelopathy. CONCLUSION: Tuberculosis of spine was the most common cause of compressive myelopathy and among the non-compressive group acute transverse myelitis and SACD were the important etiology.

A young female with quadriparesis.

We report a case of a young female who presented with acute onset quadriparesis secondary to severe hypokalemia. She was normotensive and had no metabolic alkalosis or kaliuresis. Serum potassium was corrected over the next few days and the quadriparesis resolved completely. A detailed history later on revealed that she had been consuming alternative medication for infertility for a prolonged duration and had discontinued it a month prior. One of the ingredients of this medicine was Glycyrrhiza glabra.