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PubMed2004

Blood loss in pediatric spine surgery.

This article reviews the extent of blood loss in spine surgery for scoliosis corrections in the pediatric age group. An extensive literature review presents blood loss values in surgery for adolescent idiopathic scoliosis, cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, and myelomeningocoele. The underlying disorder plays a major role in determining the extent of blood loss. Blood loss is considerably higher in those patients with a neuromuscular scoliosis compared with adolescent idiopathic scoliosis. Within the neuromuscular group those with Duchenne muscular dystrophy demonstrate the highest mean levels of blood loss. Blood loss is also shown to be progressively greater with increasing numbers of vertebral levels incorporated into the fusion, with posterior fusions compared to anterior fusions, and in those patients having both anterior and posterior fusions.

Adolescent↗
PubMed1999

[Role of growth hormone underproduction and support load deficit in development of muscle atrophy and osteopenia in tail-suspended rats].

In a 20-day experiment with tail-suspended male rats histological and histomorphometric techniques were used to study the effects of growth hormone, thyroxin, and graded support loads on the progress of atrophy in soleus and gastrocnemius m.m., tibial metaphyses spongiosis, and growth of tibiae. Daily injections of growth hormone at a dose of 0.5 mg/kg of the body mass were found to restore the longitudinal growth of tibiae and to suppress osteopenia in the spongiosis of metaphyses; however, they did not have any noteworthy effect on the muscular atrophy in the suspended rats. Support loading of the hind limbs for 2 hours a day in parallel to the treatment with growth hormone and thyroxin (0.02 mg/kg of the body mass per a day) suppressed the atrophy in soleus m. but not in gastrocnemius m. They were not able to oppose to osteoporosis in tibial metaphyses spongiosis; tibial growth was not normalized. Thyroxin did not appear to markedly influence muscle and bone atrophies; moreover, it made hypofunctioning of the thyroid more intense and, when combined with the growth hormone, masked the positive effect of the latter on the rats' bones.

Animals↗
PubMed1997

[A case of post-poliomyelitis muscular atrophy with cranial nerve signs and widespread muscular atrophy of the extremities].

Here we report a case of a 56-year-old male with post-poliomyelitis muscular atrophy (PPMA), who presented with cranial nerve signs and widespread atrophy of the extremities. He had suffered from poliomyelitis at the age of 2 years. After recovery from the acute stage, the paralysis remained in his left arm. He noticed muscle weakness of the right upper and lower extremities at the age of 45 years and the muscle atrophy progressed to his arms, hip and thigh at the age of 55 years. Neurological examination revealed muscle atrophy of the neck and disturbance of left V, VIII, IX, X and bilateral XI cranial nerves. We diagnosed this case as PPMA from his history and electromyographic and muscle biopsy findings which suggested chronic denervation. Among the 21 PPMA cases in the past in which the acute poliomyelitis had resulted in paralysis of the only one limb, ours was the only case that had muscle atrophy of all the limbs. Cranial nerve involvement is known to occur in acute poliomyelitis; therefore, there is a possibility that the involvement of the cranial nerves in our case might be a delayed progressive symptoms.

Cranial Nerves↗
PubMed1988

[A family of spino-cerebellar degeneration with disturbance of ocular movement, choreoathetosis, amyotrophy and dementia--a consideration in clinical features].

Seven cases in a family of hereditary spino-cerebellar degeneration (SCD) similar to dentatorubro-pallido-Luysian atrophy (DRPLA) were reported. The clinical features of these cases were disturbance of ocular movement (limitation of ocular movement and slow eye movement (SEM], remarkable amyotrophy, choreoathetosis, dementia and sleep apnea. The brain CT's revealed marked atrophy in pons and cerebellum. Amyotrophy had been reported in the case of DRPLA, particular ataxo-choreoathetoid form (by Hirayama). Muscle biopsy was performed in these cases, which showed scattered small angulated fiber, severe atrophic fiber with pyknotic nuclear clump, fiber type grouping and small rounded fiber were mixed. These findings indicates neurogenic change of radiculoneuropathy type (by Tanabe). In many reported cases of DRPLA and SCD with amyotrophy, this type of muscle biopsy had not been recognized. In SCD with amyotrophy, a main lesion had existed on peripheral nerve. In this case, there was no definite clinical findings (sensory disturbance, delay of conduction nerve velocity, peripheral neuropathy in nerve biopsy). In recent years, several unclassified cases of SCD with amyotrophy had been reported, which had multi-system degeneration involving peripheral neuropathy. This case is similar to these cases, which is speculates multi-systemic lesions, not only DRPLA but also peripheral nerve involvement. On neuro-otological study, velocity of saccade was slow and persuit was reserved in proband case. In younger onset case, disturbance of saccade and pursuit was mild. In older progressive case, disturbance of saccade and pursuit was progressive and accompanied with severe limitation of ocular movement. Several autopsy cases of SEM had been reported.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2006

["True neurologic thoracic outlet syndrome" -- anatomical features and electrophysiological long-term follow-up of lateral thenar atrophy].

Atrophies of the intrinsic muscles of the hand are considered to be a typical symptom of the "true neurologic" form of thoracic outlet syndrome (TOS). The classical form of this entity was described as early as 1970, consisting of a cervical rib or a prolonged transverse process of C7, complete with a fibrous band to the first thoracic rib, resulting in atrophy of the intrinsic muscles of the hand. All our TOS patients presenting with such atrophy displayed anatomical findings consistent with this definition. Based on this observation, the TOS classification currently in clinical use, which differentiates between "disputed" and "true neurologic" subgroups of the neurologic form, is reviewed. In all cases of "true neurologic TOS" with atrophy of the intrinsic muscles of the hand, the lateral thenar muscles are affected first. We present the electrophysiological long-term results of such thenar atrophies of seven patients with eight operated extremities after brachial plexus decompression. The amplitude of the neurographically measured potential over the opponens pollicis and the abductor pollicis brevis muscle, respectively, was defined as quantitative parameter for muscles atrophy. Neither distinct reinnervation nor progressive denervation was evident in any of the cases after a follow-up period, on average, of more than five years post surgery. These findings are in conflict with clinical observations reporting a major postoperative improvement of the motor deficits.

Adolescent↗
PubMed2001

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.

AIMS: To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. METHODS: Clinical data on 25 patients (mean age 7.6 years, range 0-19) were analysed. RESULTS: All patients had an early presentation with severe feeding problems and failure to thrive, hypotonia, hepatic dysfunction, inverted nipples, and abnormal subcutaneous fat pads. Eighteen patients were hospitalised in the neonatal period. Developmental delay was obvious before age 6 months. During the first seven months mean standard deviation score (SDS) for weight and length decreased 2.7 (SD = 2) and 2.4 (SD = 2), respectively. Mental retardation, ataxia, muscular atrophy, and febrile seizures were consistent features after infancy. Variable features included pericardial effusions, afebrile seizures, and stroke like episodes. Computed tomography/magnetic resonance imaging of the brain was normal in two patients examined before 4 months of age, but 18 children examined after 3 months of age had cerebellar atrophy, and 10 children also had supratentorial atrophy. Subsequent imaging showed progression of the cerebellar and supratentorial atrophy in eight and four of 10 children, respectively. Mean head circumference SDS declined from zero to -1.9 SD from age 3 months to 5 years. Motor ability ranged from none to walking with a rolator, and vocabulary ranged from none to comprehensible speech. The overall mortality ascribed to CDG-Ia was 18%. CONCLUSION: Patients with the R141H/F119L genotype have an early uniform presentation including severe failure to thrive, but their functional outcome is variable. This genotype may well cause clinical manifestations in the severe end of the spectrum of CDG-Ia.

Adolescent↗
PubMed1995

[Meningoencephalo-myeloradiculitis due to Flavivirus: bi-brachial paralysis and respiratory insufficiency].

3 patients developed rapid onset of fever and nuchal stiffness. Paresis of brachial muscles occurred within 4 days and all patients had respiratory failure that needed mechanical ventilation. At the peak of the disease there were bilateral asymmetrical severe atrophy of brachial, shoulder and neck muscles, cranial nerve pareses and absent or weak deep reflexes in the upper extremities. CSF analyses showed sterile lymphocytic pleocytosis. In 2 cases the patients suffered a tick bite in Switzerland and the third was probably bitten by an insect while opening a package received from Indonesia. Patients had rapid defervescence and serological tests were found to be highly positive for IgM and then IgG ELISA FSME (Frühsommer-Meningoenzephalitis). The patients were ventilated for 2 to 5 weeks before a progressive improvement was seen. However, on follow-up at 12, 18 and 30 months respectively, proximal muscles were still atrophied and quite weak. Our cases underline that: (1) FSME-ELISA results may cross-react with the Japanese and Central European encephalitis virus species; (2) Flaviviruses do induce unusual and preferential long-term paralysis of the upper extremities simulating poliomyelitis; (3) in the 2 patients studied electrophysiologically, there were signs of axonal reinnervation not seen in lower motor neuron syndrome which were important for reinnervation to permit progressive, but late, motor improvement; (4) there is no evidence of extension of the endemic foci of tick-borne encephalitis in Switzerland.

Adult↗
PubMed1997

The characteristic electrodiagnostic features of Kennedy's disease.

To define the electrodiagnostic (EDX) features of Kennedy's disease, their distribution, their clinical correlation, and to determine whether they are unique to this disorder, we retrospectively evaluated the EDX and clinical features of 19 patients with Kennedy's disease and found that: (1) the percentage with sensory nerve action potential abnormalities is high (95%); (2) compound muscle action potential abnormalities are less frequent (37%) and less pronounced; (3) the needle electrode examination is always abnormal (100%), revealing acute and chronic motor axon loss, with the latter predominating; (4) the clinical onset is heterogeneous for both the site of onset (bulbar, upper extremity, lower extremity, combination) and the symptomatology (sensory, motor, sensorimotor); (5) focal onsets were reported in the majority (79%); and (6) there is a strong correlation between the clinical onset (both site and symptomatology) and the maximal EDX abnormalities. Thus, the EDX features of Kennedy's disease are consistent with a slowly progressive and very chronic degeneration of the anterior horn cells and dorsal root ganglia. Although the clinical onsets are heterogenous, the EDX features are homogenous and unique, consisting of a diffuse, very slowly progressive anterior horn cell disorder coupled with a sensory neuropathy/neuronopathy that mimics an acquired process.

Action Potentials↗
PubMed1984

Focal inflammatory myopathy.

We report three patients with inflammatory myopathy who presented clinically with weakness and wasting of only one limb. The myopathy progressed over 6 months and 5 years, respectively, in two patients and was stable after 8 years in the third patient. One patient had a skin rash. Serum CK was elevated in the two patients with progressive disease. Electromyography showed brief duration, small amplitude motor unit potentials and fibrillations in the affected limbs. Muscle biopsy revealed variable fiber size, degenerating and regenerating fibers, and inflammatory foci. Vasculitis was seen in the patient with skin lesions and marked fibroblastic proliferation in the patient with the most chronic course. Immunosuppressive therapy has arrested the progression in the two patients treated; both have regained strength.

Adult↗
PubMed1978

Charcot-Marie-Tooth disease mimicking ocular myasthenia gravis.

The purpose of this report is to alert the ophthalmologist and neurologist to the fact that intermittent ocular symptoms may herald the onset of chronic progressive external ophthalmoplegia and therefore resemble the weakness produced by myasthenia gravis. In addition, chronic progressive external ophthalmoplegia may complicate the course of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth Disease↗
PubMed2001

Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death.

We generated transgenic mice that expressed a highly expanded 239 polyglutamine (polyQ) repeat under the control of the human androgen receptor promoter. These transgenic mice developed progressive neurological phenotypes of muscular weakness and ataxia, small body size and short life-span. PolyQ nuclear inclusions (NIs) were remarkable and widespread but found in selective regions of the central nervous system (CNS) such as the spinal cord, cerebrum and cerebellum as well as in selective peripheral visceral organs. This distribution pattern resembled that of spinal and bulbar muscular atrophy somewhat, but was more widespread. In neuronal tissues, NIs were present in astrocytes as well as neurons. Cytoplasmic and axonal inclusions were not observed. In the CNS regions with abundant NIs, neuronal populations were well-preserved, and neither neuronal cell death, reactive astrogliosis nor microglial invasions were detected. These findings suggest that polyQ alone can induce the neuronal dysfunction that precedes gross neuronal degeneration and provides a clue for investigating molecular mechanisms that underly the pathway to neuronal dysfunction from polyQ expansion.

Animals↗
PubMed1977

[Human myopathy and animal muscular dystrophy].

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

Adenosine Triphosphate↗
PubMed1982

Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases.

Clinical, histochemical and ultrastructural findings concerning 14 cases with diagnosis of Chronic Progressive External Ophthalmoplegia are described. According to the clinical features the patients have been rated in two groups: the first including subjects with isolated ptosis or ptosis with external ophthalmoplegia and the second including subjects with a spreading of the muscular deficit and involvement of the neck and limbs. The most frequent histological and histochemical features are type I fibre atrophy, ragged-red fibres, DPNH-diaphorase reaction disorders and abnormal accumulation of lipids into the fibres. Electron microscopy reveal myofibrillar disorganization and clusters of polymorphous, abnormal mitochondria. In five cases mitochondria contain a variety of crystalline inclusions. Correlations between clinical data and histochemical and ultrastructural findings are discussed. Mitochondrial abnormalities are postulated to be a characteristic physiopathological pattern in CPEO.

Adult↗
PubMed1987

Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.

Adult↗
PubMed2003

Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a recessive autosomal disorder characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron gene (SMN1). No curative treatment is known so far. Mutant mice carrying homozygous deletion of Smn exon 7 directed to neurons display skeletal muscle denervation, moderate loss of motor neuron cell bodies and severe axonal degeneration. These features, similar to those found in human SMA, strongly suggest the involvement of a dying back process of motor neurons and led us to test whether neurotrophic factors might have a protective role in SMA. We report here the therapeutic benefits of systemic delivery of cardiotrophin-1 (CT-1), a neurotrophic factor belonging to the IL-6 cytokine family. Intra-muscular injection of adenoviral vector expressing CT-1, even at very low dose, improves median survival, delays motor defect of mutant mice and exerts protective effect against loss of proximal motor axons and aberrant cytoskeletal organization of motor synaptic terminals. In spite of the severity of SMA phenotype in mutant mice, CT-1 is able to slow down disease progression. Neuroprotection could be regarded as valuable therapeutic approach in SMA.

Animals↗