1/38. An unusual manifestation of diabetes mellitus.MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. head, eyes, ears, nose, and throat: normal. neck: normal. heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL diagnosis: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.- - - - - - - - - - ranking = 1keywords = neuromuscular disease (Clic here for more details about this article) |
2/38. Cervical cord tethering mimicking focal muscular atrophy.spinal cord tethering rarely occurs in the cervical region. In adults, it usually results from previous operations. However, congenital origin is always diagnosed and treated early in the infant period. We report a 12-year-old boy with cervical spinal dysraphism which was erroneously diagnosed as focal muscular atrophy, a benign form of motor neuron disease. The patient was brought to our hospital because of rapid deterioration of symptoms. Careful evaluation disclosed a hairy dimple at the nuchal area, which led to the correct diagnosis. X-ray of the cervical spine showed spina bifida from C(4) to C(6) levels and fusion of the laminae of C(4) and C(5). spine MRI studies disclosed that the cervical cord was tethered caudally and dorsally, and the ventral nerve roots were markedly stretched, especially over the left side. Surgical intervention was undertaken and the patient's muscle power improved after untethering. The purpose of this report is to acquaint the reader with a surgically treatable condition that may appear to be benign focal amyotrophy. skin lesion at the nuchal area should be carefully looked for.- - - - - - - - - - ranking = 0.0034889378464216keywords = congenita (Clic here for more details about this article) |
3/38. A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial dna analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial dna defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial dna deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.- - - - - - - - - - ranking = 0.013955751385686keywords = congenita (Clic here for more details about this article) |
4/38. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.- - - - - - - - - - ranking = 1keywords = neuromuscular disease (Clic here for more details about this article) |
5/38. Minicore myopathy in children: a clinical and histopathological study of 19 cases.Minicore myopathy is a congenital myopathy characterized by multifocal areas of degeneration in muscle fibres. genetic heterogeneity expected on the basis of clinical variability awaits further resolution. We reviewed 19 cases in order to further delineate the phenotype. Marked hypotonia was the predominant presenting feature, with evidence of antenatal onset in 30% of cases. Weakness was most pronounced axially and proximally, often more severely affecting the shoulder girdle. Mild facial involvement was frequent. Varying degrees of scoliosis were obvious in all patients older than 10 years. In addition, two patients who were also the most severely affected had complete external ophthalmoplegia. One patient showed marked distal involvement. Respiratory failure developed in half of all patients after 10 years of age and correlated strongly with the degree of scoliosis. Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independent walking was observed only in one case at the age of 10 years. On ultrasound scan, differential involvement within the quadriceps was documented in several patients. Variability in fibre size, type 1 predominance and atrophy with occasional type 2 hypertrophy were prominent but nonspecific histological changes. Apart from typical minicores, a marked increase in internal nuclei was the most prominent histological feature. With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases.- - - - - - - - - - ranking = 0.0034889378464216keywords = congenita (Clic here for more details about this article) |
6/38. Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered.- - - - - - - - - - ranking = 0.0034889378464216keywords = congenita (Clic here for more details about this article) |
7/38. Congenital cervical spinal atrophy: an intrauterine hypoxic insult.We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper extremities. There was no sensory or bulbar symptom. electromyography showed polyphasic and fast-firing units in the proximal muscles of the upper extremities. With the evidence of chronic denervation and re-innervation, we speculate that this static condition is most likely due to circulatory insufficiency causing anterior horn cell ischemia during the latter part of the first trimester.- - - - - - - - - - ranking = 1.0034889378464keywords = neuromuscular disease, congenita (Clic here for more details about this article) |
8/38. Pathophysiology of weakness in a patient with congenital end-plate acetylcholinesterase deficiency.A Japanese patient with congenital end-plate acetylcholinesterase (AChE) deficiency developed severe proximal and truncal muscle weakness with preservation of distal strength. Electrophysiological studies included a train of stimuli at 3 HZ, which induced a marked decremental response in the deltoid but not in the first dorsal interosseous (FDI) muscle. Single fiber electromyography (EMG) revealed a high blocking rate (23.1 /- 30.5%, n = 13) with a markedly increased jitter (mean consecutive difference [MCD] 297 /- 218 micros) in the deltoid, but a low blocking rate (6.2 /- 7.4%, n = 16) despite an equally increased jitter (MCD 227 /- 147 micros) in the FDI. in vitro microelectrode study and computer simulation suggested that the combination of a large jitter and a low blocking rate may be ascribed to a reduced end-plate potential (EPP) amplitude with an abnormally prolonged decay time constant (tau). These characteristics may constitute the primary underlying pathophysiologic mechanism in our patient and in similar cases of congenital myasthenic syndrome.- - - - - - - - - - ranking = 0.02093362707853keywords = congenita (Clic here for more details about this article) |
9/38. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The authors report on a boy with Ullrich disease who has complete deficiency of collagen VI and harbors compound heterozygous mutations in the collagen VI alpha 2 gene. Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy.- - - - - - - - - - ranking = 0.0034889378464216keywords = congenita (Clic here for more details about this article) |
10/38. Spinal wedge osteotomy by a single posterior approach for correction of severe and rigid kyphosis or kyphoscoliosis.STUDY DESIGN: Seven patients with severe angular kyphotic deformity of the spine were treated by circumferential spinal wedge osteotomy using a single posterior approach. OBJECTIVE: To evaluate the surgical outcomes for seven patients with severe angular kyphosis or kyphoscoliosis treated by spinal wedge osteotomy. SUMMARY OF BACKGROUND DATA: Excellent surgical outcomes have been reported for procedures such as hemivertebra excision, vertebral body resection, and spinal osteotomy for angular kyphosis or kyphoscoliosis. However, the safety and efficacy of these procedures for severe and rigid deformities have not been established. methods: The surgical procedure involves circumferential exposure of the apex vertebra to the anterior aspect using a single posterior approach. Sparing only the spinal cord, the surgeon performs circumferential wedge bone resection, closure, correction, and stabilization by instrumentation while monitoring the spinal cord. Seven patients (3 kyphotics and 4 kyphoscoliotics) treated by this procedure were evaluated for a minimum of 2 years. Underlying conditions comprised five cases of congenital deformity with hemivertebrae and two cases of skeletal dysplasias. The mean age at surgery was 16.5 years, and the mean follow-up period was 6.9 years. RESULTS: Before surgery, the mean kyphotic curve was 105.4 degrees (range, 68-150 degrees ), and the mean scoliotic curve was 85.3 degrees (range, 60-132 degrees ). After surgery, the curves averaged 48.9 degrees and 40 degrees, respectively, yielding corrections of 52.9% and 54.9%. The mean posterior trunk shift in global sagittal balance was 21 mm before surgery, becoming 3 mm after surgery. Progressive spinal cord dysfunction had developed in three patients before surgery. In all three, postoperative neurologic improvement was observed. postoperative complications consisted of transient, unilateral leg paresis in two patients. No incidents of infection or pseudarthrosis were observed. CONCLUSIONS: Spinal wedge osteotomy by the single posterior approach is a reliable and safe surgical technique for correcting severe rigid angular kyphosis or kyphoscoliosis.- - - - - - - - - - ranking = 0.0034889378464216keywords = congenita (Clic here for more details about this article) |
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