Diagnosis Of Locked-in Syndrome Research Articles

Hyperhomocysteinemia induced locked-in syndrome in a young adult due to folic acid deficiency

ABSTRACT ‘Locked-in syndrome (LIS)’ is a neurological disorder, often missed initially and can have grave consequences. A rare case of LIS caused due to folic acid deficiency-induced hyperhomocysteinemia is being described here. A 16-year-old boy presented with complaints of sudden onset weakness of all the four limbs with loss of voice for one day. All the tendon reflexes were increased, bilateral planters were extensor and sensory system was intact. Patient was conscious and responded to verbal commands by ocular movements in vertical direction. Hence, a diagnosis of LIS was made. Magnetic resonance imaging of the head revealed an acute infarct in ventral pons. Serum homocysteine level was elevated (20.65 μmol/l) and folic acid level was severely low (1.7 nmol/ml). Cause of LIS was found to be hyperhomocysteinemia induced stroke in the pons, related to folic acid deficiency. The patient was managed with antiplatelet agents and folic acid supplementation and was discharged subsequently. Recognition of LIS is important as casual remarks at bedside can severely traumatize an already paralyzed but conscious and awake patient. Folic acid deficiency can lead to hyperhomocysteinemia, which can cause strokes and even LIS. Prevention of hyperhomocysteinemia may possibly prevent such neurological disasters.

Therapeutic Approaches in Locked-in Syndrome.

Locked-in syndrome (LIS) is a neuropsychological condition, in which patients present with quadriplegia, lower cranial nerve paralysis, and mutism. Diagnosis of LIS is difficult because of the similarities with other related syndromes, but it is of crucial importance to establish precise and early diagnosis in order to make the appropriate decisions according to the intervention and treatment planning. Access to a multidisciplinary, specialized team provides opportunity for continued improvement. Individualized treatment improves long-term management. Assistive technology and advanced communication aids may help people with disabilities to regain more independence and take part in everyday life. Technological achievements, such as brain-computer interfaces (BCIs) may potentially be of significant practical value to patients with LIS. Advancements in medical care, rehabilitation, and communication technology have focused on leading LIS patients to live meaningful lives in the society with the involvement of their families.

Instrumental methods in the diagnostics of locked-in syndrome

The locked-in syndrome (LiS) is typically characterized by a paralysis of almost all body muscles combined with intact cognitive functions. In practice, there are often additional brain damages besides the one directly causing LiS. These damages can lead to cognitive impairment, which substantially complicates the diagnosis of LiS. At the level of behavior, therefore, the disease can be confused with akinetic mutism, vegetative state (syn. unresponsive wakefulness state) and some other conditions. Using instrumental methods in addition to behavioral diagnostics helps to avoid diagnostic errors and to improve prognosis of rehabilitation of such patients. These methods, which include measurements of brain electric or magnetic fields, electrical potential of muscles, blood flow and oxygen consumption in the brain, are reviewed in this paper.

Locked-In Syndrome in Three Children With Guillain-Barré Syndrome

We read with interest the case report by Dr. Medici et al. [ [1] Medici C. Gonzalez G. Cerisola A. Scavone C. Locked-in syndrome in three children with Guillain-Barré syndrome. Pediatr Neurol. 2011; 45: 125-128 Abstract Full Text Full Text PDF PubMed Scopus (9) Google Scholar ], in which locked-in syndrome owing to Guillain-Barré Syndrome was diagnosed in three patients. However, we should raise some concerns about the diagnosis of locked-in syndrome in Guillain-Barré syndrome. Here we refer to the first case as an example to argue against their diagnosis. Locked-In Syndrome in Three Children With Guillain-Barré SyndromePediatric NeurologyVol. 45Issue 2PreviewLocked-in syndrome is a rare disorder in childhood. It resembles brain death, but patients are fully conscious, and incapable of communicating because of the complete paralysis of voluntary muscles. Although it can be caused by Guillain-Barré syndrome, it is rarely reported in pediatrics. We describe three pediatric cases of locked-in syndrome in patients with Guillain-Barré syndrome presenting acute tetraplegia, areflexia, cranial nerve involvement, and albuminocytologic dissociation in the cerebrospinal fluid. Full-Text PDF ResponsePediatric NeurologyVol. 46Issue 4PreviewRegarding the remarks by Drs. Wang and Zhu on our report about three patients with Guillain-Barré syndrome presenting with locked-in syndrome, we offer two comments. First of all, Drs. Wang and Zhu considered locked-in syndrome a consequence of brain damage caused by a brainstem lesion in the central nervous system. By definition, locked-in syndrome is a state in which the patient is de-efferented, with paralysis of the four limbs and cranial nerves. Although it resembles coma or brain death, insofar as patients are incapable of communicating or responding to stimuli because of a complete paralysis of voluntary movements, they are not unconscious [1]. Full-Text PDF

Response

Regarding the remarks by Drs. Wang and Zhu on our report about three patients with Guillain-Barré syndrome presenting with locked-in syndrome, we offer two comments. First of all, Drs. Wang and Zhu considered locked-in syndrome a consequence of brain damage caused by a brainstem lesion in the central nervous system. By definition, locked-in syndrome is a state in which the patient is de-efferented, with paralysis of the four limbs and cranial nerves. Although it resembles coma or brain death, insofar as patients are incapable of communicating or responding to stimuli because of a complete paralysis of voluntary movements, they are not unconscious [ [1] Posner J. Saper C. Schiff N. Plum F. Pathophysiology of signs and symptoms of coma. in: Plum and Posner’s diagnosis of stupor and coma. 4th ed. Oxford University Press, New York2007: 3-37 Google Scholar ]. Most frequently, locked-in syndrome is attributable to an interruption of the corticospinal and corticobulbar tracts as a consequence of ischemic, hemorrhagic, traumatic, tumoral, or infectious brainstem lesions, usually in the ventral region of the pons, proximal to the reticular formation [ [2] Bruno M. Schnakers C. Damas F. et al. Locked-in syndrome in children: Report of five cases and review of the literature. Pediatr Neurol. 2009; 41: 237-246 Abstract Full Text Full Text PDF PubMed Scopus (40) Google Scholar ]. In severe cases, patients with Guillain-Barré syndrome can become completely de-efferented [ [1] Posner J. Saper C. Schiff N. Plum F. Pathophysiology of signs and symptoms of coma. in: Plum and Posner’s diagnosis of stupor and coma. 4th ed. Oxford University Press, New York2007: 3-37 Google Scholar ] because of the compromise of all cranial and limb nerves. Locked-In Syndrome in Three Children With Guillain-Barré SyndromePediatric NeurologyVol. 46Issue 4PreviewWe read with interest the case report by Dr. Medici et al. [1], in which locked-in syndrome owing to Guillain-Barré Syndrome was diagnosed in three patients. However, we should raise some concerns about the diagnosis of locked-in syndrome in Guillain-Barré syndrome. Here we refer to the first case as an example to argue against their diagnosis. Full-Text PDF

End‐of‐life decision‐making in individuals with Locked‐in syndrome in the acute period after brainstem stroke

Locked-in syndrome (LIS) is commonly associated with a poor prognosis, particularly if the aetiology is stroke. Dealing with individuals with LIS and a poor prognosis raises the issue of introducing end-of-life discussions with the patient and/or family in the acute period of the illness. Existing literature regarding LIS provides little guidance about end-of-life decision-making in the acute management phase. We aim to provide some guidance for clinicians holding end-of-life discussions in the acute management period. We report two cases of relatively young individuals with LIS secondary to brainstem stroke. Both cases had a very poor prognosis and end-of-life discussions were commenced by the treating team in the acute phase. Despite the severity of their conditions, in neither case were end-of-life discussions well tolerated by the family in the weeks following admission. We suggest that LIS patients and their families, who have chosen to persist with full medical management after diagnosis of LIS, should be provided with sufficient time to adjust to the catastrophic changes that have occurred before further end-of-life discussions are pursued. Education and support are likely to be highly beneficial in the acute period post stroke as they allow the patient and family to develop a realistic understanding of the likely outcomes of their decisions.

Survey: The locked-in syndrome: a syndrome looking for a therapy

The locked-in syndrome (LIS) is a very severe condition caused by a primary vascular or traumatic injury to the brainstem, normally corresponding to a ventral pons lesion due to an obstruction of the basilar artery, and characterized by upper motor neuron quadriplegia, paralysis of lower cranial nerves, bilateral paresis of horizontal gaze and anarthria, and with preserved consciousness. Patients who have suffered this pontine lesion generally have preserved vertical eye movements and movement of the eyelids (blinking), this being their only means of responding to the outside world. A survey was conducted of 44 people diagnosed with LIS, all of them belonging to the Association of Locked-in Syndrome (ALIS) of France. Results of this survey showed that LIS was equally frequent in men and women (51.2% vs. 48.1%) and had occurred at any age between 22-77 years of age (normally between 41-52 years, the mean age being 46.79 years). The average time that transpired post-insult was 71.35 months. The principal cause of LIS was stroke (86.4%), with traumatic brain injury (TBI) being a distant second cause with an incidence of only 13.6%. The diagnosis of LIS was usually made around the middle of the second month after onset (mean of 78.76 days). The principal treatments, when present, were pharmacological and physiotherapy. However, 47.1% of the patients were not receiving treatment of any kind at the time of the survey. Neuropsychologically, 86% had a good attentional level, 97.6% were temporally oriented and 76.7% could read; 18.6% reported memory problems and 24% showed visual deficit (found mainly in patients with LIS originated by TBI); 47.5% reported a good mood state and 12.5% reported feeling depressed; 61.1% reported having sexual desire, but only 30% maintained sexual relations; 78% were capable of emitting sounds and 65.8% could communicate without technical aid; 73.2% enjoyed going out and 81% met with friends at least twice a month. Only 14.3% participated in social activities and 23.8% watched television regularly. Nearly 100% of the patients reported being sensitive to touch to any part of their bodies. This survey suggests diagnostics and rehabilitation procedures.

Review of subject: The locked-in syndrome: a syndrome looking for a therapy

A review of the scientific literature on locked-in syndrome (LIS) is offered. The clinical features, diagnosis and prognosis of LIS are reviewed, and methods regarding the differential diagnosis of LIS with severe disorders of consciousness are considered. Effective treatment, physiotherapy, and methods of communication are reviewed. Although progress in the field of communication for patients with LIS is promising, it is concluded that there are new possibilities to be pursued and that a more positive outlook in the area of professional care of the patients, as well as more extensive imaginative research will facilitate new and positive strategies for this syndrome.