1/18. Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
2/18. Complex repetitive discharges: cause or effect of neurogenic muscle hypertrophy?We report a patient with adult-onset spinal muscular atrophy (SMA) of the scapulohumeral type with neurogenic muscle hypertrophy (NMH) in markedly weakened biceps muscles in association with continuous complex repetitive discharges (CRDs). This is an apparently unique case due to the bilaterality of the NMH associated with CRDs as well as the well-circumscribed symmetric upper extremity distribution of the hypertrophy. The possible mechanisms of NMH in association with spontaneous motor activity are discussed.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
3/18. Somatosensory evoked potentials in X-linked recessive bulbospinal neuronopathy: a case demonstration.Clinicopathological findings in X-linked recessive bulbospinal neuronopathy were characterized by loss of myelinated fibers in the fasciculus gracilis and depletion of neurons in the ventral horn throughout the same segments. Clinical profile of this rare motor neuron disease include sign and symptom of lower motor neuron involving bulbar and spinal level with minimal or no sensory deficit. Previous electrodiagnostic findings consist of electrophysiological evidence of anterior horn cell disease and decreased or absent sensory action potentials in the peripheral nerve. The role of somatosensory evoked potential which can uncover the involvement of posterior column has never been probed. We report a 22-year-old man who had a clinical syndrome of X-linked bulbospinal neuronopathy. The peripheral electrodiagnostic studies supported the evidence of prolonged anterior horn cell disease and decreased sensory response. The median SEPs revealed delayed N11-N13 and N13-N20 interpeak latencies representing demyelination in fasciculus gracilis of upper cervical cord. Therefore, the median SEPs, an uninvasive procedure, can be used as a supportive method to identify sensory neuronopathy with posterior column lesion in this syndrome, especially when the patient has no obvious sensory and endocrine symptom.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
4/18. amyotrophic lateral sclerosis associated with insomnia and the aggravation of sleep-disordered breathing.A case of amyotrophic lateral sclerosis (ALS) diagnosed by sleep-disordered breathing is described. The patient's chief complaints were insomnia and nocturnal dyspnea after taking a hypnotic drug. On examination, he showed restrictive ventilatory impairment, alveolar hypoventilation and hypoxia. Polysomnographic examination revealed marked hypoxia during REM sleep periods, decreased duration of REM sleep periods, and increased sleep disruption. amyotrophic lateral sclerosis was diagnosed by the neurological finding of paraspinal muscle weakness and neurogenic changes revealed by needle electromyography and muscle biopsy. The daytime and nocturnal respiratory insufficiency improved after nasal bilevel positive airway pressure therapy. amyotrophic lateral sclerosis should be suspected as a cause of insomnia and nocturnal dyspnea.- - - - - - - - - - ranking = 102.62909875924keywords = breathing (Clic here for more details about this article) |
5/18. Use of rapacuronium in a child with spinal muscular atrophy.We report the case of an 18-month-old girl with spinal muscular atrophy (SMA) that received 1 mg x kg(-1) rapacuronium for laryngospasm during induction of anaesthesia. Within 15 min, we observed some diaphragmatic recovery and, after emergence from anaesthesia, the child demonstrated adequate respiratory efforts. However, the child showed diminished strength of the upper extremity muscles. Since the preoperative workup had revealed bulbar symptoms and laryngeal function could not be easily assessed, the patient was kept intubated until upper extremity strength had returned to preoperative levels. Small doses of midazolam had been given to reduce the patient's anxiety but the patient was extubated within 5 h without any complications. Train of four (TOF) monitoring of the right adductor pollicis muscle, performed during anaesthetic recovery, was equivocal. In SMA, muscle groups are differentially affected so that TOF responses may be inconclusive and not reflect the state of the upper airway muscles. To our knowledge, this is the first report of use of a nondepolarizing neuromuscular blocking agent in a child with SMA.- - - - - - - - - - ranking = 3keywords = upper (Clic here for more details about this article) |
6/18. Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy.BACKGROUND & OBJECTIVES: Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than females, and manifests late in the second decade of life, remaining confined to the upper limbs. We examined four patients with this form of SMA in order to determine if they carried homozygous deletion mutations in the survival motor neuron (SMN) or neuronal apoptosis inhibitory protein (NAIP) genes that underlie proximal SMA. methods: The four patients with distal upper limb SMA were analysed clinically, electrophysiologically and biochemically. Genomic dna from each of the patients was analysed by restriction enzyme digestion of polymerase chain reaction (PCR) amplification products, as well single stranded conformation polymorphism (SSCP), to detect deletion events of selected exons of the SMN and NAIP genes. RESULTS: The clinical phenotype of the four patients, together with the biochemical and electrophysiological studies, confirmed a diagnosis of distal upper limb SMA. The molecular studies excluded homozygous deletion mutations in these patients as causative of their phenotype. INTERPRETATION & CONCLUSION: The genetic component underlying distal upper limb SMA appears not to involve mutations that are common in proximal SMA patients. It is possible that genes other than SMN and NAIP may be involved, while somatic mosaicism of SMN gene mutations could be implicated in the segmental nature of distal upper limb SMA.- - - - - - - - - - ranking = 10keywords = upper (Clic here for more details about this article) |
7/18. Cervical spinal cord atrophy in the atraumatically born neonate: one form of prenatal or perinatal ischaemic insult?After atraumatic birth, three neonates presented with muscle hypotonia and weakness. Flaccid paresis of the upper extremities, spasticity of the lower extremities, dissociate sensory loss and autonomic dysfunction developed later. This ruled out the initial, tentative diagnoses of cerebral palsy, spinal muscular atrophy or hereditary neuropathy. diagnostic imaging revealed marked thinning of the cervical spinal cord in all patients. The possible aetiology of these lesions is considered. In all cases, an antenatal or perinatal infarction is thought to be the most probable cause. Different clinical pictures following intrauterine spinal cord ischemia are discussed. Spinal cord lesion must be considered even after atraumatic birth.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
8/18. Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease.Kennedy's disease (spinobulbar muscular atrophy) is an X-linked form of motor neuron disease affecting adult males carrying a CAG trinucleotide repeat expansion within the androgen receptor gene. While expression of Kennedy's disease is thought to be confined to males carrying the causative mutation, subclinical manifestations have been reported in a few female carriers of the disease. The reasons that females are protected from the disease are not clear, especially given that all other diseases caused by CAG expansions display dominant expression. In the current study, we report the identification of a heterozygote female carrying the Kennedy's disease mutation who was clinically diagnosed with motor neuron disease. We describe analysis of CAG repeat number in this individual as well as 33 relatives within the pedigree, including two male carriers of the Kennedy's mutation. The female heterozygote carried one expanded allele of the androgen receptor gene with CAG repeats numbering in the Kennedy's disease range (44 CAGs),with the normal allele numbering in the uppernormal range (28 CAGs). The subject has two sons, one of whom carries the mutant allele of the gene and has been clinically diagnosed with Kennedy's disease, whilst the other son carries the second allele of the gene with CAGs numbering in the upper normal range and displays a normal phenotype. This coexistence of motor neuron disease and the presence of one expanded allele and one allele at the upper limit of the normal range may be a coincidence. However, we hypothesize that the expression of the Kennedy's disease mutation combined with a second allele with a large but normal CAG repeat sequence may have contributed to the motor neuron degeneration displayed in the heterozygote female and discuss the possible reasons for phenotypic expression in particular individuals.- - - - - - - - - - ranking = 3keywords = upper (Clic here for more details about this article) |
9/18. Hirayama disease: description of an Italian case.Hirayama disease is slowly progressive, usually monolateral, distal upper limb amyotrophy occurring mainly in young men. It is usually considered a kind of cervical myelopathy related to flexing movements of the neck. Several patients have been reported in japan; we describe an Italian case.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
10/18. Severe hyperphosphatemia and hypocalcemia following the rectal administration of a phosphate-containing Fleet pediatric enema.BACKGROUND: Toxicity secondary to rectally administered hypertonic phosphate solution in patients with normal renal function is rarely reported in the literature. We report a case of electrolyte disturbance and seizure secondary to the rectal administration of 2 Fleet pediatric enemas. CASE REPORT: A 4-year-old white female with spinal muscular atrophy and chronic constipation was brought to the emergency department with complaints of lethargy and difficulty breathing following the administration of 2 Fleet pediatric enemas. In the emergency department, physical examination was significant for a depressed level of consciousness and shallow respirations. A basic metabolic profile was significant for a calcium of 3.3 mg/dL, phosphate of 23 mg/dL, and sodium of 153 mEq/L. Arterial blood gases revealed a pH of 7.24, Pco2 of 38 mm Hg, Po2 of 220 mm Hg. Electrocardiogram revealed a prolonged QT interval of 340 milliseconds with a corrected QT interval of 498 milliseconds. Sixteen hours postexposure, she experienced a generalized seizure unresponsive to multiple doses of lorazepam and responsive only to 100 mg of intravenous calcium chloride. Two days after presentation, the patient experienced complete resolution of symptoms. CONCLUSION: Osmotically acting hypertonic phosphate enemas can result in severe toxicity if retained. This is true even in patients without predisposing risk factors.- - - - - - - - - - ranking = 20.525819751848keywords = breathing (Clic here for more details about this article) |
| | Next -> |