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

A 10-month-old male with spongy leukoencephalopathy is presented. Neurologic manifestations included feeding difficulties, horizontal nystagmus, and spasticity at 5 months of age. His head circumference was within the normal range. Radiologic examination demonstrated a diffuse white matter disorder. There was no detectable biochemical abnormality. He followed a neurologically progressive course. Neuropathologic findings revealed characteristic vacuolar changes in the white matter located immediately under the cortex with spongy alterations of the entire subcortical white matter, including intense astrocytic gliosis and marked vascular hyperplasia. Tissue of the matrix was destroyed in the deep white matter to form cystic areas of degeneration. White matter myelin development was severely disturbed compared with that of a normal infant of the same age. Cortical neuronal cells were preserved and did not reveal any specific abnormalities. Electron microscopic examination revealed that each vacuole in the white matter was covered by several layers of myelin structures, and intralamellar splits of white matter myelin were observed. These neuropathologic findings are also observed in some known inherent metabolic disorders. The present patient, however, did not demonstrate any metabolic abnormalities. These findings suggested a new genetic disorder of myelin metabolism.
 ...
PMID:Infantile spongiform leukoencephalopathy: clinical and neuropathologic findings. 1239 32

Lesch-Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The authors performed bilateral chronic stimulation of the globus pallidus internus for control of dystonic movements in a 19-year-old man with LNS. His self-mutilating behavior unexpectedly disappeared after chronic stimulation. This is the first case of LNS that has been successfully treated with deep brain stimulation. The findings indicate that neurobehavioral features of this syndrome are either mediated in the basal ganglia pathways or secondary to the dystonia.
 ...
PMID:Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. 1259 32

We treated a 16-year-old boy with acute thoracic myelopathy due to sharply angular scoliosis. The patient underwent posterior decompression and posterior spinal fusion using Luque spinal segmental instrumentation. Postoperatively, spasticity increased, and voluntary movement of the lower extremities disappeared. The patient could walk without assistive devices 5 months postoperatively. As pseudarthrosis at the posterior fusion site was suspected, anterior spinal fusion was performed using a fibular bone strut. His neurologic deficits were completely alleviated, and bony union was obtained. In our case, paraparesis followed relatively mild trauma because the spinal cord was predisposed to injury by continuous mechanical compression, although the cause of the severe temporary deficits following the first operation was not identified.
 ...
PMID:Acute thoracic myelopathy after a traumatic episode in a patient with neurofibromatosis associated with sharply angular scoliosis: a case report. 1455 41

Lesch-Nyhan syndrome (LNS) is a rare X-recessive disorder that leads to virtually complete deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Partial HPRT deficiency results in uric acid overproduction with subsequent hyperuricemia, nephrolithiasis, renal failure and gouty arthritis. In contrast, at complete HPRT deficiency, besides overproduction of uric acid neurological problems appear including spasticity, choreoathetosis, mental retardation, and compulsive self-mutilation. The cause for the uric acid overproduction has been clarified, but the connection between the enzyme deficiency and the neurological manifestations in LNS remains unclear. A hypothesis, which explains this relation, is proposed in the paper. The hypothesis has several important points most substantial of which is the accelerated biosynthesis of semiessential amino acid histidine that against the background of accelerated purine de novo biosynthesis results in 5-aminoimidazole-4-carboxamideribotide (AICAR) and histamine accumulation. The histamine and AICAR were determined to be the compounds that cause the neurobehavioral symptoms of LNS for several reasons. First, in the basal ganglia a balance between the direct (activating) and the indirect (inhibiting) pathways arising on the basis of the antagonistic and reciprocal dopamine-adenosine interactions normally exists. This balance can tonically regulate smooth voluntary movements and the activity of the thalamus, which, in turn, processes the afferent sensorimotor signals from the whole body to the all areas of the cerebral cortex and is concerned to modulate mental development and bring sensory information into awareness. Second, histamine is known to induce a selective damage in dopaminergic neurons inhibiting the direct dopaminergic pathway, which could lead to muscular rigidity, and slowness in initiating movements as well as tremor that are characteristic of Parkinsonism in LNS. Third, AICAribosid (AICAR breakdown product) is a potent adenosine A2a receptor antagonist inhibiting the indirect dopamine-adenosinergic pathway and, therefore, could be responsible for the choreoathetosis, dystonia and ballismus found in LNS. The excitatory-inhibitory disbalance in the basal ganglia could result in inadequate modification of the thalamus activity with subsequent mental retardation and symptoms that include the patients not being aware for their own bodies that could give rise to self-mutilation. Finally, a possibility for the creation of a new animal model that could exactly match the human LNS is proposed in the paper.
 ...
PMID:The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. 1519 65

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.
 ...
PMID:Fucosidosis with hypothyroidism: a case report. 1521 49

A 32-year-old man developed an extremely rare subdural hematoma after syringosubarachnoid shunting for syringomyelia. He presented with a 4-year history of neck pain and spastic paraparesis resulting from T-7 and T-8 vertebral body fracture suffered in a traffic accident at age 22 years. Magnetic resonance imaging revealed syringomyelia between the craniocervical junction and the T-10 level. The symptoms were slowly progressive, and a syringosubarachnoid shunting was performed. His spasticity improved after surgery, but he developed orthostatic headache 7 days after surgery. Magnetic resonance imaging of the brain demonstrated a thin subdural hematoma over the right cerebral convexity. The subdural hematoma resolved spontaneously within a week with conservative treatment. Vigorous cerebrospinal fluid outflow observed during surgery presumably lowered the pressure in the syrinx cavity, leading to significant but transient intracranial hypotension and consequently the formation of subdural hematoma.
 ...
PMID:Subdural hematoma caused by intracranial hypotension after syringosubarachnoid shunting--case report. 1560 Feb 82

We report siblings with xeroderma pigmentosum group A (XP-A) showing mild cutaneous and late-onset severe neurological manifestations. The elder brother first noticed unstability in walking at 16 years of age. Subsequently slowly progressive mental deterioration developed with cerebellar ataxia, spasticity, sensory disturbance, urinary dysfunction and vocal cord paralysis. His younger sister presented with dysarthria at 18 years of age. She showed manifestations similar to her brother's. Both of them suffered from sensitivity to the sun but no malignant skin tumor. They were diagnosed as XP-A by the measurement of unscheduled DNA synthesis and complementation analysis. Gene analyses revealed compound heterozygote for G-->C substitution at the 3' splicing acceptor site of intron 3 and insertion of 4 bases in exon 6 of XPA gene. It is suggested that transcription-coupled repair is dominantly affected with relative sparing of global genome repair in these siblings.
 ...
PMID:[Siblings with xeroderma pigmentosum group A showing mild cutaneous and various neurological manifestations]. 1661 38

Intrathecal baclofen (ITB) therapy is being used increasingly to treat medically intractable spasticity in children with cerebral palsy and spinal cord injuries. Baclofen overdose and withdrawal are potentially life-threatening complications of pump and spinal catheter system malfunction. We report a case of a 12-year-old boy, on long-term ITB therapy, who presents to our emergency department with an overdose of ITB, which is followed by withdrawal symptoms. The patient initially presented obtunded and in respiratory arrest. His symptoms of respiratory arrest, obtundation, fixed pupils, and hypotension mimicked other diagnoses, such as head trauma. The history obtained from the family about the pump reservoir being refilled just before the onset of symptoms led to the diagnosis. During hospitalization, as the patient recovered from the overdose, he began to experience symptoms of baclofen withdrawal, including hypertension, hyperthermia, and hallucinations. The pump was found to be disconnected and was revised. The patient was discharged home without permanent sequelae. With increased use of ITB, emergency medicine physicians must be aware of the mechanics of these pumps and the management of baclofen toxicity and withdrawal.
 ...
PMID:Intrathecal baclofen overdose and withdrawal. 1665 18

We report two patients diagnosed to have familial amyotrophic lateral sclerosis (FALS). A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS. Her mother had presented in 1978 at the age of 42 years with symptoms and signs of ALS. The other patient was a 43 year old male with rapidly progressive weakness, wasting and spasticity of the limbs and bulbar palsy of 4 months duration and with electrophysiological evidence of diffuse anterior horn cell involvement. His father also had onset of illness at 43 years of age with gradually progressive spasticity and atrophy of the extremities followed by bulbar palsy. In the first instance the mother had a duration of illness of 8 years while in the second the father lived for 15 years after the onset of illness.
 ...
PMID:Familial amyotrophic lateral sclerosis: first report from India. 1693 97

We herein report a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts (MLC) who developed late-onset neuropsychological symptoms. He demonstrated characteristic clinical features of MLC during childhood, such as slowly progressive megalencepaly, motor impairment with ataxia and spasticity, mild mental retardation, and well-controlled epilepsy. Thereafter, he showed specific neuropsychological symptoms, such as motor and vocal tics, compulsive behavior, perseveration, acquired stuttering, and dystonia since the age of 12. His performance abilities had been unchanged but his verbal abilities had degraded during the past 14 years. Higher cortical dysfunction tests revealed a frontal lobe dysfunction. On repeated brain MRI, a leukoencephalopathy with subcortical cysts remained stationary from infancy. On single photon emission computed tomography (SPECT), a hypoperfusion in the frontal lobe was detected at the age of 3.5 and 17, but the severity of hypoperfusion was also unchanged, respectively. Our results indicate that the frontal lobe dysfunction may be relevant to the late-onset neuropsychological symptoms with MLC.
 ...
PMID:Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. 1723 7


<< Previous 1 2 3 4 5 6 7 8 Next >>