Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old man, a field operator in a petroleum refinery was found unconscious. He was exposed to hydrogen sulfide and presented with Glasgow Coma Score of 5, severe hypoxemia on arterial blood gas analysis, normal chest radiography, and normal blood pressure. On hospital day 7, his mental state became clear, and neurologic examination showed quadriparesis, profound spasticity, increased tendon reflexes, abnormal Babinski response, and bradykinesia. He was also found to have decreased memory, attention deficits and blunted affect, which suggested general cognitive dysfunction, but which improved soon. MRI scan showed abnormal signals in both basal ganglia and motor cortex, compatible with clinical findings of motor dysfunction.
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PMID:Neurologic sequela of hydrogen sulfide poisoning. 1496 23

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.
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PMID:Congenital irreducible atlantoaxial dislocation associated with cervical intramedullary astrocytoma causing progressive spastic quadriparesis. 1912 46

Intrathecal baclofen (ITB) infusion has become a common treatment for severe spasticity. Many complications of these drug delivery systems have been reported such as those related to improper dosing, mechanical failure of the implanted pump or catheter, or post-operative wound issues. We report a case of ITB withdrawal after pseudomeningocele aspiration. A 21 year-old male with spastic quadriparesis due to traumatic brian injury (TBI) presented with a pseudomeningocele surrounding an ITB pump (215 mcg/day, continuous) implanted in the abdomen. The pseudomeningocele was percutaneously aspirated and approximately 15 hours later the patient developed signs and symptoms of acute baclofen withdrawal. As a result, the patient underwent an exploration of the ITB infusion system with an intraoperative epidural blood patch. The symptoms of ITB withdrawal improved over the next 18 hours. The subcutaneous cerebrospinal fluid (CSF) collection partially recurred 48 hours later, but this resolved after a second epidural blood patch. The case illustrates a unique presentation of a serious complication of ITB infusion. This underscores that timely diagnosis and treatment of acute baclofen withdrawal is key to optimal outcomes.
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PMID:Emergent intrathecal baclofen withdrawal after pseudomeningocele aspiration. 2351 86

A 41-year-old man presented with postcervical traumatic complete quadriparesis under intrathecal baclofen therapy (ITB) for refractory spasticity. Less than 24 h after having his baclofen pump substituted, he develops hyperthermia, seizures, cognitive depression, acute hypoxaemic respiratory failure and cardiovascular instability leading to mechanical ventilation and vasopressor support. He was transferred to an intensive care unit with diagnosis of community-acquired pneumonia leading to septic shock. He evolved with progressive clinical worsening and multisystem organ failure and cardiac arrest in non-shockable rhythm (pulseless electrical activity)--4 min resuscitation with return of spontaneous circulation. Considering the possible diagnosis of baclofen withdrawal syndrome and, in suspicion of ITB delivery disruption, the catheter system was surgically explored and a leaking tubule attachment was found. Despite aggressive cardiovascular, respiratory and renal support therapy, clinical improvement occurred only after restoration of intrathecal drug delivery. He was discharged from the hospital after 56 days, having returned to baseline status.
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PMID:Cardiac arrest due to baclofen withdrawal syndrome. 2482 63

The authors present a case of 15 years male child who presented with neck pain and progressive ascending quadriparesis. Magnetic resonance imaging showed lytic mass involving C5 and C6 vertebra with soft tissue extension. Surgical excision of mass done using anterior cervical approach. Postoperatively, patient showed improvement in spasticity and power. Histopathological examination of mass was suggestive of juvenile xanthogranuloma (JXG). At 6 months follow-up, patient was improving without any evidence of recurrence. Only 12 cases of JXG of spine have been reported till date including only four cases involving the cervical spine and among these four cases only two were of pediatric age group.
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PMID:Solitary juvenile xanthogranuloma of the cervical spine in a child: A case report and review of literature. 2576 92

X-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylate transporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life with neurodevelopment delays but have pleasant dispositions and commonly have elevated serum triiodothyronine. They also have marked axial hypotonia and quadriparesis but surprisingly little spasticity early in their disease course. They do, however, have subtle involuntary movements, most often dystonia. The combination of hypotonia and dystonia presents a neurorehabilitation challenge and explains why spasticity-directed therapies have commonly produced suboptimal responses. Our aim was to better define the spectrum of motor disability and to elucidate the neuroanatomic basis of the motor impairments seen in MCT8 deficiency using clinical observation and brain magnetic resonance imaging (MRI) in a cohort of 6 affected pediatric patients. Our findings identified potential imaging biomarkers and suggest that rehabilitation efforts targeting dystonia may be more beneficial than those targeting spasticity in the prepubertal pediatric MCT8 deficiency population.
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PMID:Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies. 2590 Jan 39

Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating.
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PMID:Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management. 2785 96

Intrathecal baclofen(ITB)infusion can offer a useful treatment for severe spasticity;however, numerous complications have been reported. We report a pediatric case in which intractable cerebrospinal fluid(CSF)leakage associated with several inconvenient symptoms arose after implantation of the ITB pump system. A 10-year-old girl with spastic quadriparesis and athetoid cerebral palsy underwent implantation of an ITB delivery system. After discharge, she presented with fluid collection surrounding the pump in the abdomen. The volume of fluid increased and was percutaneously aspirated every other week. However, conservative management failed to relieve fluid collection, which was suspected to be due to CSF leakage. She underwent additional purse-string suture of the point inserted catheter insertion in the back, epidural blood patch, and subfascial implantation of an anchor. However, none of these therapies proved effective. Progressive enlargement of the accumulated fluid was observed. Furthermore, symptoms of ITB withdrawal appeared. Lumbar-peritoneal shunting was performed, and the subcutaneous fluid collection was relieved postoperatively. The course after shunting was uneventful;hence, the dose of baclofen was stabilized. No recurrence of fluid collection was encountered for two years. Intractable CSF leakage was thought to be caused by wasting, occult hydrocephalus, and twisted movements. This case indicates that care is required in the management of CSF leakage after ITB pump implantation.
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PMID:[A Pediatric Case of Intractable Cerebrospinal Fluid Leakage after Implantation of an Intrathecal Baclofen Pump]. 2810 Aug 60

Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadriparesis and visual insufficiency. Magnetic resonance imaging of brain had shown cystic encephalomalacia involving bilateral parieto-occipital lobe and elevated lactate in magnetic resonance spectroscopy. Restricted diffusion noted along the corticospinal tract in our case is a novel imaging finding in patients with molybdenum cofactor deficiency. Low serum uric acid and elevated urine sulfite excretion were observed. A novel homozygous mutation was detected in exon 4 of molybdenum cofactor synthesis 2 (MOCS2) gene. Early infantile or neonatal onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking hypoxic-ischaemic encephalopathy should raise the suspect for molybdenum cofactor deficiency. Screening of all neonates for urinary sulfite metabolites would help in early diagnosis and management. Early diagnosis and treatment with cyclic pyranopterin monophosphate could arrest the progression of molybdenum cofactor deficiency type A. More research is needed to explore further treatment options in this otherwise lethal disorder.
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PMID:Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. 2969 52

Cervical spondylotic myelopathy is a common cause of progressive quadriparesis in adults. It is characterized by compression of the cervical spinal cord due to degenerative changes including intervertebral disc protrusion, ligamentum flavum hypertrophy, and osteophyte formation. Clinically, patients can present with declining motor control in the extremities, gait imbalance, spasticity, hyperreflexia, or possibly frank weakness. Surgical treatment options include ventral and dorsal approaches, whose indications vary depending on spinal alignment, number of levels requiring decompression, the dorsal/ventral/circumferential location of compression, and patient-specific anatomic constraints. Posterior cervical decompression and instrumented fusion is a mainstay of treatment for cervical spondylotic myelopathy when a dorsal approach is indicated. In this video, we present a case of a 60-yr-old female who presented with signs and symptoms of cervical myelopathy, with MRI findings of C3 on C4 anterolisthesis and circumferential central stenosis worst at C4-5 and C5-6. We demonstrate the operative steps to complete a C3 to C6 decompression and instrumented fusion with lateral mass screws. Appropriate patient consent was obtained.
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PMID:Posterior Cervical Decompression and Instrumented Fusion for Cervical Spondylotic Myelopathy: 2-Dimensional Operative Video. 3040 51


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