Normal Serum Creatine Kinase Research Articles

A Case of Acute Disseminated Encephalomyelitis Disguised as Mania in a Woman With Known Bipolar Disorder

Back to table of contents Previous article Next article LettersFull AccessA Case of Acute Disseminated Encephalomyelitis Disguised as Mania in a Woman With Known Bipolar DisorderDenise Cupina, and Brooke ShortDenise CupinaSearch for more papers by this author, and Brooke ShortSearch for more papers by this authorPublished Online:1 Apr 2012https://doi.org/10.1176/appi.neuropsych.11060118AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail Acute disseminated encephalomyelitis (ADEM) is a rare acute widespread demyelinating condition affecting brain and spinal cord.1 It is characterized by multiple white matter lesions present on neuroimaging studies.1 The clinical manifestations vary widely and usually include a combination of neurological and psychiatric symptoms, however a predominantly psychiatric presentation is possible.2, 3Bipolar disorder is an affective disorder (BPAD) characterized by distinctive episodes of depression and mania with or without psychotic symptoms and full interepisode recovery.4We report a case of a woman with history of bipolar disorder who developed ADEM which presented clinically very similarly to a manic episode initially indistinguishable from her pre-existing psychiatric condition.A 31 year old woman with bipolar disorder was admitted with a relapse of manic symptoms. On admission, her physical examination, baseline blood tests and urine drug screen were unremarkable. She was recommenced on lithium and quetiapine but continued to present as elevated, highly labile and irritable despite restarting her usual treatment. After five weeks she achieved only partial resolution of symptoms, in contrast to her previous manic episodes that had resolved within a few weeks. Her medication was gradually changed to sodium valproate and risperidone, to which she developed severe extrapyramidal side effects. Risperidone was thus changed to olanzapine. Her mental state continued to fluctuate with evidence of disorientation, confusion and fluctuating attentiveness. A full neurological exam found no specific abnormalities other than parkinsonian signs. Neuroleptic malignant syndrome was considered but excluded due to normal serum creatine kinase, absence of pyrexia and autonomic instability. Her white cell count was mildly elevated with neutrophilia, but no infective focus was detected. Electroencephalogram was normal. Upon further questioning of family members history of an observed seizure prior to initial admission was obtained. An urgent magnetic resonance image (MRI) of her brain was arranged showing multiple areas of increased signal intensity on T2/FLAIR images in periventricular, subcortical, and brainstem regions bilaterally with no enhancement post-gadolinium.The patient was transferred urgently to the neurology ward. A lumbar puncture was conducted which found no abnormalities. Oligoclonal bands were positive in cerebrospinal fluid only. Serology testing and autoimmune markers were negative. A diagnosis of ADEM was made. The patient was commenced on IV Ceftriaxone and Methylprednisolone. Her delirium resolved but she continued to have residual mood and psychotic symptoms that took several weeks to improve. Her follow up brain MRI scan performed two months after the symptoms onset was unchanged. She was discharged home with a scheduled follow up appointment in the neurology outpatient clinic.Our patient developed ADEM that was initially diagnosed and treated as a relapse of bipolar disorder. ADEM can mimic various psychiatric disorders3 making its diagnosis in psychiatric patients extremely difficult. This case highlights the importance of taking a detailed neurological and medical history in every patient presenting with psychiatric symptoms. It additionally emphasizes the significance of recognizing atypical clinical features, such as poor response to usual treatment, increased sensitivity to medication side effects, changeable presentation and onset of delirium indicating organic rather than purely psychiatric aetiology.References1 Garg RK: Acute disseminated encephalomyelitis. Postgrad Med J 2003; 79:11–17Crossref, Medline, Google Scholar2 Patel SP, Friedman RS: Neuropsychiatric features of acute disseminated encephalomyelitis: a review. J Neuropsychiatry Clin Neurosci 1997; 9:534–540Link, Google Scholar3 Habek M, Brinar M, Brinar VV, et al.: Psychiatric manifestations of multiple sclerosis and acute disseminated encephalomyelitis. Clin Neurol Neurosurg 2006; 108:290–294Crossref, Medline, Google Scholar4. Kaplan HI, sadock BJ: Mood disorders. Kaplan and Sadock’s Synopsys of Psychiatry, 10th Edition, Sydney, Lippincott Williams & Wilkins 2077:527–578Google Scholar FiguresReferencesCited byDetailsCited ByAcute demyelinating encephalomyelitis presenting with psychiatric symptoms5 November 2013 | International Journal of Geriatric Psychiatry, Vol. 28, No. 12 Volume 24Issue 2 Spring 2012Pages E18-E18 Metrics PDF download History Published online 1 April 2012 Published in print 1 April 2012

多発筋炎様症状を呈した高齢発症サルコイドミオパチーの1例

A 75-year-old woman was admitted with a history of acute muscle weakness of her legs for two weeks. Physical examination showed no abnormal findings. Neurological examination revealed symmetrical proximal muscle weakness of legs with muscle pain on grasping. Laboratory data showed normal serum creatine kinase level and marked increases in the levels of serum ACE and soluble interleukin 2. Electromyography showed no myopathic changes. MRI T2 weighted imaging (T2WI) imaging for femoral skeletal muscle demonstrated scattered high and low intensity signals. Muscle biopsy from the right rectus femoris muscle showed granuloma with giant cells of Langhans. She was given a diagnosis of sarcoid myopathy, and motor weakness and abnormal intensity signals on T2WI in this patient were dramatically improved with oral administration of prednisolone (40 mg/day).

PRIMARY SPINAL CORD NEURODEGENERATION IN LEBER HEREDITARY OPTIC NEUROPATHY

Leber hereditary optic neuropathy (LHON) is a subacute bilateral optic neuropathy that typically presents in young adult men due to one of three point mutations of mitochondrial DNA (mtDNA, m.11778G→A, m.3460G→A, or m.14484T→C) affecting genes coding for complex I of the mitochondrial respiratory chain. Most patients only develop visual failure, but some develop additional neurologic features, including a multiple sclerosis (MS)–like illness.1 ### Case report. A 39-year-old woman developed a progressive gait and sensory disturbance 5 years after subacute bilateral visual failure. She smoked cigarettes and took regular alcohol, multivitamins, and folic acid. In addition to the reduced visual acuity (counting fingers), central scotomata, and optic atrophy, she had horizontal gaze-evoked nystagmus and symmetric pyramidal-pattern lower limb weakness. Tendon reflexes were brisk, ankle jerks absent, and plantar responses extensor. Vibration sensation was absent below the hips and elbows. She had a macrocytosis (110 fL), vitamin B12 level of 769 ng/L (normal = 160 to 600 ng/L), red cell folate level of 342 μg/L (normal = 95 to 570 μg/L), and alanine transaminase level of 198 μ/L (normal <45 μ/L), with a normal serum creatine kinase. Urine toxicology, HIV, VDRL, and hepatitis serology were all negative. Vitamin E, very long chain fatty acids, autoantibodies, and immunoglobulins were normal. The CSF was acellular, with a normal protein, glucose, and no oligoclonal bands. Her 12-lead EKG was normal. Brain MRI revealed symmetric high T2 signal in the substantia nigra, pontine tegmentum, inferior olives, and dorsal columns of the spinal …

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI

We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy—typical histological findings in CMD. Immunostaining showed normal expression of merosin, α and β-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants.

Toxic myopathies: muscle biopsy features

Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2%) followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (59.3%). Clinical features, etiology, course of the disease, serum levels of muscular enzymes, electromyographic features and, especially, muscle biopsy features are discussed.

A Patient With Polymyositis and Normal Serum Creatine Kinase Level

A Patient With Polymyositis and Normal Serum Creatine Kinase Level

Creatine Kinase Activity Is Associated With Blood Pressure

We previously hypothesized that high activity of creatine kinase, the central regulatory enzyme of energy metabolism, facilitates the development of high blood pressure. Creatine kinase rapidly provides adenosine triphosphate to highly energy-demanding processes, including cardiovascular contraction, and antagonizes nitric oxide-mediated functions. Relatively high activity of the enzyme, particularly in resistance arteries, is thought to enhance pressor responses and increase blood pressure. Tissue creatine kinase activity is reported to be high in black people, a population subgroup with greater hypertension risk; the proposed effects of high creatine kinase activity, however, are not "race dependent." We therefore assessed whether creatine kinase is associated with blood pressure in a multiethnic population. We analyzed a stratified random sample of the population of Amsterdam, The Netherlands, consisting of 1444 citizens (503 white European, 292 South Asian, 580 black, and 69 of other ethnicity) aged 34 to 60 years. We used linear regression analysis to investigate the association between blood pressure and normal serum creatine kinase after rest, as a substitute measure of tissue activity. Creatine kinase was independently associated with blood pressure, with an increase in systolic and diastolic pressure, respectively, of 8.0 (95% CI, 3.3 to 12.7) and 4.7 (95% CI, 1.9 to 7.5) mm Hg per log creatine kinase increase after adjustment for age, sex, body mass index, and ethnicity. Creatine kinase is associated with blood pressure. Further studies are needed to explore the nature of this association, including how variation in cardiovascular creatine kinase activity may affect pressor responses.

A case of polymyositis complicated with myasthenic crisis

We report a 62-year-old woman who suffered from polymyositis (PM) complicated with myasthenic crisis. Electromyography and muscle biopsy indicated a diagnosis of PM; however, respiratory failure due to respiratory muscle weakness was seen in spite of a normal serum creatine kinase (CK) level. The positive anti-acetylcholine receptor antibody led us to the diagnosis of myasthenic crisis. PM with respiratory muscle weakness is rare. We suggest that the possibility of other neurological disorder complications should be considered when PM patients have respiratory muscle weakness out of proportion to the serum CK level.

Grandpa and I have Dystrophinopathy?: Approach to Asymptomatic HyperCKemia

This report describes three males from a single kinship, ages 7, 8, and 67 years with clinically asymptomatic dystrophinopathy. The index case was an 8-year-old male evaluated for asymptomatic but persistently elevated serum creatine kinase levels. Muscle biopsy demonstrated a mild myopathy, without necrotic fibers. Immunostaining for dystrophin revealed a slight reduction in sarcolemmal reactivity for the amino terminus of dystrophin. Dystrophin gene analysis revealed a deletion of exon 45 to exon 51. Genetic analysis identified two other affected males (age 7 years and 67 years), as well as four female carriers in the same family. The 7-year-old male had mildly increased creatine kinase levels with normal muscle strength. The 67-year-old grandfather had normal neuromuscular examination and serum creatine kinase levels. Asymptomatic dystrophinopathy in late adulthood is exceptionally rare, and highlights the importance of consideration of dystrophin mutation analysis in patients with hyperCKemia, even in the absence of muscle weakness.

Serum Creatine Kinase Activity Varies with Ovulatory Status in Regularly Exercising, Premenopausal Women

Background/Aims: The clinical complications associated with an unopposed estrogen environment and luteal phase defects observed in exercising women prompted the examination of the relationship of exercise and endogenous ovarian steroids with serum creatine kinase (CK) activity. Methods: Subjects (n = 34) were classified into three groups according to their exercise and menstrual status, sedentary and exercising ovulatory groups (SedOvul, ExOvul), and an exercising amenorrheic group (ExAmen). Daily urine samples were collected to assess urinary ovarian steroid exposure and menstrual status. Serum CK activity was assayed in each menstrual cycle of all subjects. Results: Exercise increased serum CK activity in all exercising subjects (p < 0.01), but the increase was greater in amenorrheic women compared to ovulatory women (SedOvul: 33.0 ± 3.4; ExOvul: 43.7 ± 4.1; ExAmen: 54.4 ± 3.6, p < 0.05). When the ovulatory women were further divided into those with normal steroid production (ExOvul subgroup) and those with a suppressed progesterone luteal phase environment (ExLPD), both the ExOvul (51.9 ± 5.4 IU/l) subgroup and ExAmen group had higher serum CK activity (p < 0.05) than the ExLPD (36.6 ± 5.2 IU/l) subjects or the sedentary controls. Conclusions: These data demonstrate the complex association between ovarian hormone status and the normal serum CK response to regular mechanical stress imposed by chronic exercise training.

Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft‐versus‐host disease

A 51-year-old man developed progressive debilitating limb and respiratory muscle weakness while undergoing treatment for chronic graft-versus-host disease secondary to allogeneic bone marrow transplant for mantle cell lymphoma. He had a normal serum creatine kinase level and acetylcholine receptor antibodies were negative. Electromyography showed a severe, nonirritable myopathy and a sensory motor axonal polyneuropathy. A muscle biopsy showed a necrotizing, vacuolar myopathy with many fibers containing autophagic and red-rimmed vacuoles, suggestive of an amphiphilic drug myopathy. The patient's strength and function improved significantly after discontinuation of hydroxychloroquine.

Cardiotropic effect of extracardiac transplantation of embryonic human myoblasts to mice with bradycardia: Various effects of cell material

Animals with bradycardia were detected in reproductive colony of mdx mice. Low pulse rate was associated with poor survival and predisposition to sudden death, but did not directly depend on the presence of dystrophin mutant gene or animal age. Heart rate increased in old mice with bradycardia after extracardial, intramuscular, and intravenous injection of human embryonic myoblasts. Stable normalization of the pulse was observed 2 weeks after transplantation, but early peak of heart rate was observed as early as 24 h after cell transplantation. Cell suspensions, which could contain stem cells (blood mononuclears and CD34+ lymphocytes), also corrected heart rhythm. Unlike the effect of myoblasts, cardiotropic effect of mononuclears was preceded by a period of tachycardia, while the effect of CD34+ lymphocytes was very unstable. The cardiotropic effect of myoblasts was combined with life span prolongation and certain rejuvenation in some animals. Erythrocytes and supernatant obtained during blood cell fractionation did not modify the heart rhythm in mice with bradycardia. After injection of myoblasts to mice with rare and normal pulses serum creatine kinase activity decreased with different rates. These data attest to a variety of biological effects of stem cells and/or their derivatives and to ambiguous mechanisms of these effects.

The incremental value of troponin‐I testing in patients with intermediate risk unstable angina

Classification of patients with unstable angina (UA) by Agency for Health Care Policy and Research (AHCPR) guidelines in the emergency department reliably stratifies risk of death or myocardial infarction (MI) for triage to outpatient evaluation (low-risk), hospitalization (high-risk), or additional testing (intermediate-risk). Cardiac troponin-I elevation may identify patients at higher risk, but the incremental value may vary with AHCPR clinical risk. The objective of this study was to determine whether cardiac troponin-I had any additional value beyond triage based upon history, physical examination, and electrocardiogram, in the evaluation of patients with UA. In all, 212 consecutive patients with UA and normal serum creatine kinase (CK)-MB levels and elevated troponin-I were risk stratified by AHCPR guidelines to evaluate the incremental value of adding routine troponin-I measurements to our current model for risk stratification. Primary events (death/nonfatal MI) occurred in 35% of high-risk, 15% of intermediate-risk, and 0% of low-risk patients (p < 0.001 by chi-square for trend). High troponin-I (> or =2.0 ng/dl) occurred in 48% of high-risk, 21% of intermediate-risk, and 19% of low-risk patients. The remaining patients in each risk group had indeterminate troponin-I levels (> or =0.4 < 2 ng/dl). Of those with high troponin-I, a primary event occurred in 36, 42, and 0% in the respective high-, intermediate-, and low-risk groups (p < 0.001). High troponin-I levels corresponded with a statistically significant increased rate of primary events only in patients at AHCPR intermediate risk: 42.4 vs. 7.3%, p < 0.001. The AHCPR guidelines risk stratify patients with UA. High troponin-I adds significant (p < 0.001) prognostic value in the patients at AHCPR intermediate risk and should be evaluated further in larger trials of such patients.

Atypical myotonia congenita in a foal

SUMMARY Myotonia congenita is a rare congenital muscle disorder in horses characterized by myotonia, electromyographic changes, mild pathologic changes on muscle biopsy, and normal serum creatine kinase (CK) activity. In the foal described in this case report, exertional rhabdomyolysis and muscle fasciculations without characteristic electromyographic changes were initially found at 3 weeks of age. When the foal was evaluated at 6 months of age, typical electromyographic changes were present that were consistent with myotonia. However, the foal continued to have elevations in serum CK activity and had osseous deformation of the face. Myotonia, persistent elevations in CK activity, and facial dysmorphism are characteristic of Schwartz-Jampel syndrome of humans. A definitive diagnosis of Schwartz-Jampel syndrome, however, could not be made.

Calpainopathy: how broad is the spectrum of clinical variability?

Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with motor neuron disease, in one patient. No exon 7-8 deletion in the survival motor neuron (SMN) gene was found. Linkage analysis excluded the SMN and all known autosomal recessive limb girdle muscular dystrophy loci, with the exception of LGMD-2A. A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. This family suggests that the clinical spectrum of calpainopathy might be broader and that this diagnosis might be considered in patients with an atypical motor neuron disease.

Congenital muscular dystrophy in Israeli families.

Twelve patients from 11 Israeli families with congenital muscular dystrophy were evaluated between 1991 and 2001. There were six males and six females, of whom six were merosin negative and six were merosin positive. Serum creatine kinase levels were highly elevated in the merosin-negative group. Four of the children were cognitively normal but nonambulant. Two had unusual clinical findings of severe cognitive and motor developmental dysfunction. Four infants in the merosin-positive group who had normal serum creatine kinase levels had early-onset severe motor weakness and died within the first year of life owing to ventilatory insufficiency. The other two were ambulant and had normal cognitive development and elevated serum creatine kinase levels. Noteworthy, two of the six children with merosin-negative congenital muscular dystrophy had cognitive impairment, and four of the six children with merosin-positive congenital muscular dystrophy had a severe form of the disease with ventilatory insufficiency and death during infancy.

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

Central core disease (CCD) is a well recognized, relatively mild, non- or slowly progressive, dominantly inherited, congenital myopathy due, at least in some families, to mutations in the ryanodine receptor gene on chromosome 19q13.1. We report two unrelated cases with an unusual, early onset congenital myopathy with severe contractures, delayed motor milestones, proximal muscle weakness, normal serum creatine kinase (CK), a non-progressive course, with muscle biopsy findings of central cores and in addition, marked proliferation of connective and adipose tissue, and variation in fibre size. Muscle biopsies from the parents, who were non-consanguineous and healthy, showed minor myopathic changes and uneven staining with oxidative enzymes, but no central cores. The marked histological muscle changes, the distribution of weakness and the non-progressive course of the disease suggest that this is a severe variant of central core disease with secondary dystrophy-like change. The presence of mild changes in the histochemical reactions of biopsies of both parents of these two children supports the hypothesis that they are carriers of a recessive disease gene mutation responsible for this unusually severe form of central core disease.

Infantile polymyositis with normal serum creatine kinase level

A 30-month-old boy who has been suffering progressive proximal muscle weakness and severe atrophy in shoulder and hip muscles from 11 months of age had prominent perivascular inflammatory cellular infiltration in his muscle biopsy and myopathic EMG changes. But his serum creatine kinase (CK) levels were repeatedly found to be within normal ranges. Oral prednisolone therapy (2 mg/kg/d) brought a complete recovery of muscle power and normalization of EMG and muscle biopsy findings. This report provides an additional support that the cases of infantile polymyositis with normal serum CK levels may respond well to steroid therapy.

Myalgia and cramps: dystrophinopathy with wide-ranging laboratory findings.

We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four of the 12 patients had normal serum creatine kinase levels, and four others had only mild elevations (less than twice the upper limit of normal). These patients establish an identifiable dystrophinopathy of adolescent boys and young men that can present with muscle pain and, in some cases, normal routine laboratory evaluations.

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus “suddenly at risk”

DNA methods to diagnose Duchenne muscular dystrophy (DMD) are not always informative, and we have published previously the first instance of in utero muscle biopsy to assess dystrophin in a male fetus having the same "X" as an affected sib. We present here a female fetus with a de novo X,1 translocation with breakpoint at Xp21, detected on amniocentesis for advanced maternal age. The translocation breakpoint placed her at high risk for DMD. In utero muscle biopsy at 20 weeks of gestation produced a specimen positive for dystrophin immunofluorescence indicating a likely normal fetus. The pregnancy was continued, and at term the baby girl was found to have normal serum creatine kinase levels, and was therefore unaffected with DMD. Our experiences add de novo Xp21 translocation to the indications for in utero muscle biopsy for diagnosis of DMD.