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Cranial neuropathies, confusion, and ataxia— Challenges for diagnosis and therapy  [PDF]
Ajay Sood, Elena Crisan, Morris Fisher
Case Reports in Clinical Medicine (CRCM) , 2013, DOI: 10.4236/crcm.2013.22040

Introduction: The differential diagnosis of patients presenting with multiple cranial neuropathies, ataxia, and altered mentation is broad and includes immunologic, infectious, vasculitic and metabolic conditions. Primary considerations are Bickerstaff’s brainstem encephalitis (BBE), the Miller Fisher syndrome (MFS), Wernicke’s encephalopathy and botulism. The initial workup may be unrevealing. Timely treatment is imperative and unnecessary treatment can be associated with serious adverse reactions. Sensitivity to the decisions needed in such patients is therefore important. Case report: A 58-year-old male presented with symptoms of altered mental status, blurred vision, dysphagia and dysarthria, impaired pupillary responses to light, facial diplegia, ataxia, and decreased tendon reflexes after an episode of a self resolving diarrheal disease. Primary initial diagnostic concerns were Bickerstaff’s brainstem encephalitis (BBE), Miller Fisher syndrome (MFS), Wernicke’s encephalopathy and botulism. Initial work-up including cerebrospinal fluid analyses, imaging studies, and an electrodiagnostic examination did not provide information helpful for narrowing this differential. The patient was treated with botulinum antitoxin, thiamine and intravenous immune globulin (IVIG) before the results of specialized tests were available. The patient’s clinical condition improved. Retrospectively, the patient was diagnosed as BBE. Conclusion: This case emphasizes the difficulties in distinguishing between BBE, MFS, and botulism as well as demonstrating the complexities of treating such patients.

Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach
Christopher R,Shetty K T
Annals of Indian Academy of Neurology , 1999,
Abstract: The past two decades have witnessed a rapid increase in the knowledge of the inherited neurometabolic disorders. The precise diagnosis of these disorders which is a challenge to the physician can be best accomplished by biochemical methods. Screening of clinically selected patients with simple chemical urine tests and routine blood chemistry investigations followed by measurement of specific metabolites and assay of the relevant enzymes confirms the diagnosis in most cases. Biochemical diagnosis of inherited neurometabolic disorders although expensive is rapid and confirmatory and therefore aids in treatment and further prevention of these rare disorders.
Nontraumatic Focal Neuropathies: Distribution and Retrospective Analysis of the Cases  [cached]
Hatice Bodur,Filiz Eser,Meryem Dedeo?lu,?zlem Y?lmaz
Türkiye Fiziksel Tip ve Rehabilitasyon Dergisi , 2012,
Abstract: Objective: Focal neuropathies are the most frequently encountered disorders in the electroneuromyography (ENMG) practice. In this study, in order to obtain useful data on the epidemiology and classification of nontraumatic focal neuropathies, we retrospectively evaluated the etiology of the nontraumatic focal neuropathies as well as their distribution according to the nerves involved in patients who presented to our electrophysiology laboratory.Materials and Methods: The patient records were retrospectively analyzed to perform the study. A total of 4759 patients [3843 (80.8%) females and 916 (19.2%) males], who presented with the referral diagnosis of focal neuropathy between 1996 and 2009, were included. Results: The ENMG study was normal in 2136 (44.9%) patients. The referral diagnosis was concordant with the final diagnosis in 2502 (52.6%) patients, and focal neuropathy was evident. Polyneuropathy was diagnosed in 63 (1.3%) patients while 58 (1.2%) had other diagnoses (radiculopathy, motor neuron disease). Two thousand and seven (80.2%) patients with focal neuropathy were females and 495 (19.8%) were males. The mean age of the subjects was 48.33±13.32 years. The median nerve was the most frequently affected nerve and carpal tunnel syndrome (CTS) (74.6%) was the most frequently encountered focal neuropathy. Facial nerve (16.8%) and ulnar nerve (4.7%) neuropathies followed them. Conclusion: The proportion of the normal cases was high in our study and the concordance between referral and final diagnosis was not satisfactory. This result indicates that ENMG must be performed after a detailed history and physical examination. In contrast to traumatic focal neuropathies, females predominated among the patients with nontraumatic focal neuropathies and the mean age was higher than that of men. Unlike traumatic focal neuropathies (ulnar and sciatic nerves), the median nerve was the most frequently affected nerve and CTS was the most frequently encountered focal neuropathy, as mentioned in the literature. Turk J Phys Med Re-hab 2012;58:114-20.
Inherited Metabolic Disease in the Neonatal Period: Approach to Clinical Diagnosis  [PDF]
AN Onyiriuka
Journal of Nepal Paediatric Society , 2012, DOI: 10.3126/jnps.v32i1.4882
Abstract: This review article highlighted the need for clinicians to be alert to the possibility of an inherited metabolic disease (IMD) being the cause of a neonatal illness and provided a systematic approach to clinical diagnosis when IMD is suspected. Inherited metabolic disease (IMD) must be considered in the differential diagnosis of an ill neonate with nonspecific unexplained features, such as poor feeding, lethargy, failure to gain weight/weight loss, coma, apnoea, hyperventilation, seizures and hypotonia. Investigation for IMD should begin with simple urine and blood screening tests. For example, the urine examination includes checking for unusual odours, urinalysis (for ketones, amino acids, and organic acids), and reducing substance in urine, ferric chloride test and dinitrophenylhydrazine test. This is followed by simple blood tests e.g., full blood count, glucose, ammonia, amino acids, urea and electrolytes ( Na, K, Cl, P, Ca) levels, creatinine levels, liver function tests, serum lactate/pyruvate ratio and blood gases. In neonates, ketonuria with acidosis is a very important laboratory finding pointing to IMD. Although the prognosis for patients with IMD presenting in the neonatal period is often poor, every effort must be made to establish the diagnosis for parental counselling and in case prenatal diagnosis is possible in future pregnancies. In conclusion, when presented with an ill full-term neonate with nonspecific, unexplained/peculiar features pursue the usual bacterial septicaemia work-up, but in addition, consider IMD and evaluate, timely, for metabolic disease. This approach is very useful since the commonest mistake in the management of a neonate with IMD is a delay in diagnosis or a misdiagnosis, resulting in a delay in starting treatment with catastrophic consequences.
The diagnosis of inherited metabolic diseases by microarray gene expression profiling
Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom, Anthony M Marinaki
Orphanet Journal of Rare Diseases , 2010, DOI: 10.1186/1750-1172-5-34
Abstract: Total mRNA extracted from cultured fibroblast cell lines was hybridized to Affymetrix U133 Plus 2.0 arrays. Expression data was analyzed for the presence of a gene expression signature characteristic of an inherited metabolic disorder and for genes expressing significantly decreased levels of mRNA.No characteristic signatures were found. However, in 16% of cases, disease-associated nonsense and frameshift mutations generating premature termination codons resulted in significantly decreased mRNA expression of the defective gene. The microarray assay detected these changes with high sensitivity and specificity.In patients with a suspected familial metabolic disorder where initial screening tests have proven uninformative, microarray gene expression profiling may contribute significantly to the identification of the genetic defect, shortcutting the diagnostic cascade.At least 300 different IMDs have been described [1] and new disorders are being identified [2,3] due to increasing awareness and advances in identification techniques. The birth prevalence of IMDs in the West Midlands is estimated to be 1 in 784 live births, extrapolating to approximately 800 new cases per year in the UK as a whole [4]. The majority of patients (72%) are diagnosed by the age of 15 years, with only one-third diagnosed by the age of one year. Any hope of effective treatment rests on precise and early diagnosis [4,5]. The diagnosis of IMDs may be a long and tedious process. The first step relies on matching clinical presentation to a potentially defective metabolic pathway. These investigations may take several months to complete, and even after this time, it may not be possible to make a diagnosis. Indeed, our experience in the Purine Research Laboratory at Guy's and St Thomas' Hospitals shows that a definitive diagnosis is only made in about 1% of children investigated for a suspected purine or pyrimidine disorder, with one reason being the overlap in clinical presentation between unrelated
Toxic neuropathies  [cached]
Misra Usha,Kalita Jayantee
Neurology India , 2009,
Abstract: Toxic neuropathies generally result in length dependent axonal neuropathy with the exception of diphtheria and a few toxic neuropathies. In spite of occurrence of diphtheria in India there is paucity of published reports on diphtheritic neuropathy. Arsenic neuropathy commonly occurs in Bengal and Bangladesh because of ground water contamination whereas in Punjab it is due to contamination of opium. Lead neuropathy is rare and has been reported in battery workers and silver refining workers. It produces motor neuropathy resulting in foot drop and wrist drop. Organophosphates are used as pesticides, industrial chemicals and food adulterant. Certain organophosphates such as triorthocresyl phosphate used for or oil adulteration inhibit neurotoxic esterase and result in a delayed type of axonal neuropathy. Alcohol related neuropathy is a controversial issue whether it is due to alcohol related toxicity or due to nutritional deficiencies. Indian studies have revealed that neuropathy occurs both in alcoholic and nonalcoholic cirrhosis. Hexane neuropathy is reported in screen printers and these cases highlight the need for better preventive and occupational measures. Iatrogenic toxic neuropathies have been reported with cisplatin and vincristine. Because of geographical, occupational and health related conditions toxic neuropathies are likely to be more common than reported and greater awareness is needed.
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Yasmin Namavar, Peter G Barth, Bwee Poll-The, Frank Baas
Orphanet Journal of Rare Diseases , 2011, DOI: 10.1186/1750-1172-6-50
Abstract: The name Pontocerebellar Hypoplasia (PCH) originates from a report of Brun almost a century ago, in which he described human brain development and abnormalities associated with brain development. Cerebellar Hypoplasia is described as dwarfed growth of the cerebellum [1]. Seven years later Brouwer suggested that pontocerebellar hypoplasia is possibly due to degeneration rather than to hypoplasia [2]. Subsequent reports described the pathology as atrophy of cerebellar hemispheres with relative sparing of the flocculi and vermis and apparent fragmentation of the cerebellar dentate nucleus [3-5]. The first reported case of PCH which included specific clinical details was probably by Krause [4]. He reported a child with swallowing problems, spasticity and complete absence of cognitive and voluntary motor development with the pathological profile of PCH. In retrospect this may have been the first documented case on PCH type 2. Pfeiffer and Pfeiffer first reported the extrapyramidal component [5-8]. Barth et al. described a cluster of related families with PCH from a genetic isolate in the Netherlands as an inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia [9]. A first attempt for classification was based on two subtypes; this divided PCH in cases with accompanying spinal anterior horn disease (type 1) and cases with chorea/dyskinesia (type 2) [10]. This classification was extended into five subtypes in 2006 and in 2007 a sixth was added [11,12]. The latest subtype that may be classified as PCH7, has been recently added to this list [13]. PCH now includes seven (PCH1-7) disorders. In most cases, especially in PCH1, PCH2, PCH4 and PCH5 prenatal onset of structural decline is well documented. In some milder cases cerebellar images suggest a perinatal or early postnatal onset. The clinical diagnosis is made on neuroradiological, neuropathological and neurological findings [14-18]. Neuroradiological findings in all subtypes are pontocerebellar hypop
Pulmonary hypertension: diagnosis and clinical classification  [cached]
M. Serdar Kü?üko?lu,Murat Ba?kurt
Anadolu Kardiyoloji Dergisi , 2010,
Abstract: Pulmonary hypertension (PH) is a complex disease with limiting the physical activity, life expectancy significantly and requires multidisciplinary approach. In recent years, a dramatic increase was observed in the understanding and management of the disease. The first clinical classification of PH was made in Evian (France) in 1973 and the last clinical classification of PH was made in Dana Point (USA) in 2008. Diagnosis and clinical classification of PH is discussed in this review.
Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers  [PDF]
Xinzhong Li, Andrew J. Buckton, Samuel L. Wilkinson, Shibu John, Roddy Walsh, Tomas Novotny, Iveta Valaskova, Manu Gupta, Laurence Game, Paul J R. Barton, Stuart A. Cook, James S. Ware
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0067744
Abstract: Background Molecular genetic testing is recommended for diagnosis of inherited cardiac disease, to guide prognosis and treatment, but access is often limited by cost and availability. Recently introduced high-throughput bench-top DNA sequencing platforms have the potential to overcome these limitations. Methodology/Principal Findings We evaluated two next-generation sequencing (NGS) platforms for molecular diagnostics. The protein-coding regions of six genes associated with inherited arrhythmia syndromes were amplified from 15 human samples using parallelised multiplex PCR (Access Array, Fluidigm), and sequenced on the MiSeq (Illumina) and Ion Torrent PGM (Life Technologies). Overall, 97.9% of the target was sequenced adequately for variant calling on the MiSeq, and 96.8% on the Ion Torrent PGM. Regions missed tended to be of high GC-content, and most were problematic for both platforms. Variant calling was assessed using 107 variants detected using Sanger sequencing: within adequately sequenced regions, variant calling on both platforms was highly accurate (Sensitivity: MiSeq 100%, PGM 99.1%. Positive predictive value: MiSeq 95.9%, PGM 95.5%). At the time of the study the Ion Torrent PGM had a lower capital cost and individual runs were cheaper and faster. The MiSeq had a higher capacity (requiring fewer runs), with reduced hands-on time and simpler laboratory workflows. Both provide significant cost and time savings over conventional methods, even allowing for adjunct Sanger sequencing to validate findings and sequence exons missed by NGS. Conclusions/Significance MiSeq and Ion Torrent PGM both provide accurate variant detection as part of a PCR-based molecular diagnostic workflow, and provide alternative platforms for molecular diagnosis of inherited cardiac conditions. Though there were performance differences at this throughput, platforms differed primarily in terms of cost, scalability, protocol stability and ease of use. Compared with current molecular genetic diagnostic tests for inherited cardiac arrhythmias, these NGS approaches are faster, less expensive, and yet more comprehensive.
Classification and diagnosis of ear malformations
Bartel-Friedrich, Sylva,Wulke, Cornelia
GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery , 2007,
Abstract: In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC), middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to K sling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.
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