Pearls & Oy-sters: Delayed Diagnosis of Acute Motor Axonal Neuropathy With Cardiac Arrest

We present the case of a 53-year-old female who presented with right lower extremity weakness with preceding systemic symptoms including fever and chest pain. She developed rapid quadriparesis over 24 hours and had ventricular fibrillation with cardiac arrest. Examination demonstrated tetraplegia, facial diplegia with spared extra-ocular movements and areflexia. Electrodiagnostic studies including nerve conduction studies and electromyography were consistent with Acute Motor Axonal Neuropathy (AMAN). This case highlights an atypical asymmetric presentation with initially preserved reflexes, rapid progression and cardiac dysfunction that can occur independent of dysautonomia. Treatment options include intravenous immunoglobulin (IVIg) or plasmapheresis as well as supportive care and long term multidisciplinary rehabilitation and communication strategies.

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Metachromatic Leukodystrophy: Diagnosis and Treatment Challenges

Bionatura ◽

10.21931/rb/2021.06.03.32 ◽

2021 ◽

Vol 3 (3) ◽

pp. 2083-2090

Author(s):

Nayibe Tatiana Sanchez-Alvarez ◽

Paula Katherine Bautista-Niño ◽

Juanita Trejos-Suárez ◽

Norma Cecilia Serrano-Diaz

Keyword(s):

Intracellular Signaling ◽

Metachromatic Leukodystrophy ◽

Treatment Options ◽

Current Treatment ◽

Significant Advance ◽

Rapid Progression ◽

Hematopoietic Stem ◽

Enzyme Replacement ◽

Bibliographic Search ◽

Systemic Symptoms

Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and systemic symptoms. Objective. Carry out an updated bibliographic search on the most critical advances in the treatment and diagnosis for LDM. A retrospective topic review published in English and Spanish in the Orphanet and Pubmed databases. Current treatment options, such as enzyme replacement therapy and hematopoietic stem cell transplantation aimed at decreasing the rapid progression of the disease, improving patient survival; however, these are costly. The pathophysiological events of intracellular signaling related to the deficiency of the enzyme Arylsulfatase A and subsequent accumulation of sulphatides and glycosylated ceramides have not yet been established. Recently, the accumulation of C16 sulphatides has been shown to inhibit glycolysis and insulin secretion in pancreatic cells. The significant advance in technology has allowed timely diagnosis in patients suffering from LDM; however, they still do not have an effective treatment.

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IAP037 Cardiac arrest in a child with acute motor axonal neuropathy

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(08)70621-4 ◽

2007 ◽

Vol 11 ◽

pp. 96

Author(s):

T. Sezer ◽

S. Teber ◽

M. Kafali ◽

T. Kendirli ◽

G. Deda

Keyword(s):

Cardiac Arrest ◽

Axonal Neuropathy ◽

Acute Motor Axonal Neuropathy

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Clinical features and outcome of Guillain–Barre syndrome in Saudi Arabia: a multicenter, retrospective study

BMC Neurology ◽

10.1186/s12883-021-02314-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Mohammed H. Alanazy ◽

Sawsan S. Bakry ◽

Afnan Alqahtani ◽

Norah S. AlAkeel ◽

Naael Alazwary ◽

...

Keyword(s):

Saudi Arabia ◽

Clinical Features ◽

Axonal Neuropathy ◽

Guillain Barre Syndrome ◽

Upper Respiratory Tract ◽

Arab Population ◽

Acute Motor Axonal Neuropathy ◽

Facial Diplegia ◽

Guillain Barré Syndrome ◽

Guillain Barré

Abstract Background Guillain–Barre syndrome (GBS) is an inflammatory polyradiculoneuropathy characterized by rapidly evolving weakness and areflexia, reaching nadir within 4 weeks. Data on the characteristic of GBS in Saudi Arabia are limited. This study aimed to describe the clinical, electrophysiological, and laboratory characteristics and outcome of a multicenter cohort of patients with GBS. Methods This is a retrospective multicenter nationwide study. Patients who had GBS, identified through Brighton Criteria, between January 2015 and December 2019 were included. Data collected included demographics, clinical features, cerebrospinal fluid profile, reported electrophysiological patterns, treatment, and outcome. Reported GBS subtypes were compared using chi-square, Fisher's exact, or Mann–Whitney U tests, as appropriate. Results A total of 156 patients with GBS were included (men, 61.5%), with a median age of 38 (interquartile range, 26.25–53.5) years. The most commonly reported antecedent illnesses were upper respiratory tract infection (39.1%) and diarrhea (27.8%). All but two patients (98.7%) had weakness, 64.1% had sensory symptoms, 43.1% had facial diplegia, 33.8% had oropharyngeal weakness, 12.4% had ophthalmoplegia, and 26.3% needed mechanical ventilation. Cytoalbuminological dissociation was observed in 69.1% of the patients. GBS-specific therapy was administered in 96.8% of the patients, of whom 88.1% had intravenous immunoglobulin, and 11.9% had plasmapheresis. Approximately half of the patients were able to walk independently within 9 months after discharge, and a third regained the ability to walk independently thereafter. Death of one patient was caused by septicemia. Acute inflammatory demyelinating polyradiculoneuropathy was the most commonly reported GBS subtype (37.7%), followed by acute motor axonal neuropathy (29.5%), and acute motor-sensory axonal neuropathy (19.2%). Conclusion The clinical and laboratory characteristics and outcome of GBS in the Arab population of Saudi Arabia are similar to the international cohorts. The overall prognosis is favorable.

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A Retrospective Study on Patients with Guillain-Barré Syndrome Treated with Therapeutic Plasma Exchange and Other Treatment Options A Centre’s Experience

European Neurological Review ◽

10.17925/enr.2015.10.01.81 ◽

2015 ◽

Vol 10 (01) ◽

pp. 81

Author(s):

Ilknur Kozanoglu ◽

Yerdelen Deniz ◽

Nurhilal Buyukkurt ◽

Mahmut Yeral ◽

Can Boga ◽

...

Keyword(s):

Plasma Exchange ◽

Severe Disease ◽

Treatment Options ◽

Axonal Neuropathy ◽

Additional Treatment ◽

Therapeutic Plasma Exchange ◽

Guillain Barre Syndrome ◽

Acute Motor Axonal Neuropathy ◽

Guillain Barré Syndrome ◽

Guillain Barré

Therapeutic plasma exchange (TPE) has been shown to hasten recovery in Guillain-Barré syndrome (GBS). In this study, the objective was to show the outcome of disability grade in a retrospective analysis of data of clinical experience of TPE using the COBE Spectra Apheresis system and other treatment options in selected patients from a series of 56 patients with GBS at a single treatment centre in Turkey. Ten patients had the acute motor axonal neuropathy (AMAN) subtype; 46 had the acute inflammatory demyelinating polyneuropathy (AIDP) subtype of GBS. Three hundred and eighteen TPE procedures were performed taking 2 to 3 hours: in 6.3 % of them a peripheral catheter was used; in 93.7 % of them a central catheter was used. Replacement fluids were fresh frozen plasma (FFP), lactated Ringers solution or 3 % hydroxyethyl starch (HES). Among the patients, 12 (21.4 %) who had severe disease course received additional treatment to TPE - this was intravenous immunoglobulin (IVIG) in 11 patients. One patient was treated with steroids after rheumatology consultation due to another autoimmune disease. After 2 weeks, the mean GBS disability scores had significantly decreased from 3.75±0.48 to 2.44±0.96 (p=0.0001) and mean Medical Research Council (MRC) muscle strength scores significantly increased from 2.07±0.89 to 3.54±0.88 (p=0.0001). No difference in efficacy was observed between AMAN and AIDP subtypes. Adverse events occurred in 20 procedures (6.3 %) of TPE and were mostly transient hypocalcaemia and allergic reactions that did not necessitate treatment discontinuation. Difficulty in venous access was observed in 3.14 % of procedures. TPE using the COBE Spectra Apheresis system provides effective treatment of GBS with an acceptable safety profile using various replacement fluids and is an essential part of disease management. Although the benefit is controversial, other treatment options may be applied as an additional therapy in selected patients.

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Acute Motor Axonal Neuropathy Accompanied with Delayed Facial Diplegia

Korean Journal of Neuromuscular Disorders ◽

10.46518/kjnmd.2021.13.2.40 ◽

2021 ◽

Vol 13 (2) ◽

pp. 40-43

Author(s):

Byeol-A Yoon ◽

Hyein Chung ◽

Ja Hyeon Cho ◽

Jong Kuk Kim

Keyword(s):

Axonal Neuropathy ◽

Acute Motor Axonal Neuropathy ◽

Facial Diplegia

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Educational aspects of rare and orphan lung diseases

Respiratory Research ◽

10.1186/s12931-021-01676-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Tiago M. Alfaro ◽

Marlies S. Wijsenbeek ◽

Pippa Powell ◽

Daiana Stolz ◽

John R. Hurst ◽

...

Keyword(s):

Lung Diseases ◽

Healthcare Professionals ◽

Treatment Options ◽

Delayed Diagnosis ◽

Reference Network ◽

Delay In Diagnosis ◽

Positive Effects ◽

European Reference Network ◽

Patient Representatives ◽

Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

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