Acute motor and sensory axonal neuropathy (AMSAN) in a 7-year-old boy. A cases report

Abstract Background Surgery is a potential trigger of Guillain-Barré syndrome (GBS), a disorder which leads to an autoimmune-mediated attack of peripheral nerves. The present study was designed to explore clinical features of post-surgical GBS compared with those of general GBS in order to provide better clinical advice to patients undergoing surgery. Methods The medical records of GBS patients who were seen at 31 tertiary hospitals in southern China between January 1, 2013 and September 30, 2016 were retrospectively analyzed. Post-surgical GBS was defined as symptoms of GBS within 6 weeks after surgery. Clinical features of post-surgical GBS are described and are compared with general GBS. Results Among the 1001 GBS patient cases examined in this study, 45 (4.5%) patient cases exhibited symptoms of GBS within 6 weeks of undergoing surgery. Within this group, 36 (80.0%) patients developed initial symptoms of limb weakness. The average interval between surgery and symptom onset was 13.31 days. The most common type of surgery which triggered GBS was orthopedic surgery, followed by neurological surgery. Compared to general GBS, post-surgical GBS was characterized by a higher proportion of severe patients (Hughes functional grading scale (HFGS) score ≥ 3) upon admission and at nadir, higher HFGS scores at discharge, and longer hospital stays. Post-surgical GBS patients also had a significantly higher frequency of the acute motor axonal neuropathy subtype (37.9 vs. 14.2, respectively; P = 0.001). Conclusion Surgery is probably a potential trigger factor for GBS, especially orthopedic surgery. Infections secondary to surgery may play a role. The possibility of preceding (post-operative) infections was not excluded in this study. Clinical presentation of post-surgical GBS is characterized by a more severe course and poorer prognosis, and should be closely monitored. Trial registration chicTR-RRc-17,014,152.

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SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0139 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Francesco Porta ◽

Barbara Siri ◽

Nicoletta Chiesa ◽

Federica Ricci ◽

Lulash Nika ◽

...

Keyword(s):

Axonal Neuropathy ◽

Clinical Signs ◽

Leigh Syndrome ◽

High Dose ◽

New Variant ◽

Long Term Follow Up ◽

Basal Ganglia Involvement ◽

Biallelic Mutations ◽

Thiamine Treatment ◽

Striatal Necrosis

AbstractObjectivesBiallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A.Case presentationThe natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level.ConclusionsNon-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.

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HINT1 neuropathy in Norway: clinical, genetic and functional profiling

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01746-z ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Silvia Amor-Barris ◽

Helle Høyer ◽

Lin V. Brauteset ◽

Els De Vriendt ◽

Linda Strand ◽

...

Keyword(s):

Axonal Neuropathy ◽

Functional Characterization ◽

Treatment Strategies ◽

Central Nervous System Involvement ◽

Sensory Neuropathy ◽

Muscle Stiffness ◽

Compound Heterozygous ◽

Clinical Genetic ◽

Cellular Models ◽

New Variant

Abstract Background Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.Arg37Pro) founder variant. Results In a cohort of 748 Norwegian patients with suspected peripheral neuropathy, we identified two seemingly unrelated individuals, compound heterozygous for a new variant (c.284G > A, p.Arg95Gln) and the most common pathogenic founder variant (c.110G > C, p.Arg37Pro) in the HINT1 gene. Probands presented with motor greater than sensory neuropathy of various onset, accompanied by muscle stiffness and cramps in the limbs. Furthermore, they displayed non-classical symptoms, including pain in the extremities and signs of central nervous system involvement. Haplotype analysis in both patients revealed a common chromosomal background for p.Arg95Gln; moreover, the variant was identified in Swedish carriers. Functional characterization in HINT1-knockout and patient-derived cellular models, and in HNT1-knockout yeast, suggested that the new variant is deleterious for the function of HINT1 and provided mechanistic insights allowing patient stratification for future treatment strategies. Conclusion Our findings broaden the genetic epidemiology of HINT1-neuropathy and have implications for molecular diagnostics of inherited peripheral neuropathies in Scandinavia.

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Drop Foot Secondary to a Peroneal Intraneural Ganglion Connected to the Superior Tibiofibular Joint: A Case Report

Indian Journal of Neurosurgery ◽

10.1055/s-0040-1716602 ◽

2020 ◽

Author(s):

Kenan Kıbıcı ◽

Berrin Erok ◽

Akın Onat

Keyword(s):

Peroneal Nerve ◽

Imaging Modality ◽

Axonal Neuropathy ◽

Common Peroneal Nerve ◽

Foot Drop ◽

Intraneural Ganglion ◽

Articular Branch ◽

Ankle Eversion ◽

Adjacent Structures ◽

Tibiofibular Joint

AbstractPeroneal neuropathy is the most frequent mononeuropathy of the lower extremity. Intraneural ganglion cysts (INGCs) are among rare causes of peroneal nerve palsy. According to the articular (synovial) theory, the articular branch plays the key role in the pathogenesis. Patients present with pain around the fibular head and neck, motor weakness resulting in foot drop and paresthesia in the anterolateral calf and foot. Ultrasonography (US) and MRI are both useful in the diagnosis, but MRI is the best imaging modality in the demonstration of the articular connection and the relation of the cyst with adjacent structures, even without special neurography sequences. We present a 32-year-old male patient referred to our neurosurgery clinic with suspicion of lumbar radiculopathy. He presented with right foot drop which began 3 weeks prior. On examination, there was 90% loss in the ankle dorsiflexion and finger extension. Ankle eversion was also weakened. There was no low back or posterolateral thigh pain to suggest L5 radiculopathy and sciatic neuropathy. Following negative lumbar spine MRI, peripheral neuropathy was concerned. Electrodiagnostic evaluations findings were consistent with acute/subacute common peroneal nerve (CPN) axonal neuropathy. Subsequent MRI of knee showed a homogeneous, thin-walled tubular cystic lesion, extending along the course of the CPN and its articular branch. Full recovery of the neuropathy was achieved with early diagnosis and decompression via microsurgical epineurotomy. The diagnosis of INGC was confirmed by histopathologic examination. INGCs, although rare, should also be considered in the differential diagnosis of peripheral mononeuropathies.

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A case of acute motor and sensory axonal neuropathy mimicking brain death

Neurological Sciences ◽

10.1007/s10072-021-05051-2 ◽

2021 ◽

Author(s):

Laura Libonati ◽

Ilenia Fiorini ◽

Chiara Cambieri ◽

Marco Ceccanti ◽

Maurizio Inghilleri

Keyword(s):

Brain Death ◽

Axonal Neuropathy

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RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

Journal of Neurology ◽

10.1007/s00415-021-10552-3 ◽

2021 ◽

Author(s):

Matteo Tagliapietra ◽

Davide Cardellini ◽

Moreno Ferrarini ◽

Silvia Testi ◽

Sergio Ferrari ◽

...

Keyword(s):

Care Center ◽

Axonal Neuropathy ◽

Tertiary Care ◽

Sensory Neuropathy ◽

Nerve Fibers ◽

Repeat Expansion ◽

Sural Nerve Biopsy ◽

Prevalence Odds Ratio ◽

Axonal Polyneuropathy ◽

Factor C

Abstract Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopathic Axonal Polyneuropathy” (CIAP) is a common indolent axonal neuropathy of adulthood which remains without an identifiable cause despite thorough investigations. Methods We screened 234 probands diagnosed with CIAP for a pathogenic biallelic RFC1 AAGGG repeat expansion. Patients were selected from 594 consecutive patients with neuropathy referred to our tertiary-care center for a sural nerve biopsy over 10 years. Results The RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P < 0.001) or sensorimotor (3/138, 2%, P < 0.001) neuropathy. The mutation was associated with sensory ataxia (τb = 0.254, P < 0.001), autonomic disturbances (35% vs 8%, Prevalence Odds Ratio—POR 6.73 CI 95% 2.79–16.2, P < 0.001), retained deep tendon reflexes (score 18.0/24 vs 11.5/24, R = 0.275, P < 0.001). On pathology, we observed absent/scant regenerative changes (τb = − 0.362, P < 0.001), concomitant involvement of large (100% and 99%, n.s.), small myelinated (97% vs 81%, POR 7.74 CI 95% 1.03–58.4, P = 0.02) and unmyelinated nerve fibers (85% vs 41%, POR 8.52 CI 95% 3.17–22.9, P < 0.001). Cerebellar or vestibular involvement was similarly rare in the two groups. Conclusions This study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy.

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A Case of Acute Motor Sensory Axonal Neuropathy: A Variant of Guillain-Barré Syndrome, with Possible Syndrome of Irreversible Lithium-Effectuated Neurotoxicity

Case Reports in Medicine ◽

10.1155/2020/4683507 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

David Y. Liu ◽

Jessica R. Hollenbach ◽

Jason A. Gregorin ◽

Jonathan H. Wynbrandt

Keyword(s):

Prolonged Mechanical Ventilation ◽

Axonal Neuropathy ◽

Guillain Barre Syndrome ◽

Respiratory Compromise ◽

Term Care ◽

Fluid Analysis ◽

Guillain Barré Syndrome ◽

Immune Globulins ◽

Prolonged Recovery ◽

Guillain Barré

Acute Motor Sensory Axonal Neuropathy (AMSAN) is a rare and severe variant of Guillain-Barré syndrome (GBS) that has a prolonged recovery course. GBS is often suspected due to ascending muscle weakness, sensation difficulties, respiratory compromise, and antecedent diarrhea. The diagnosis of GBS is supported by cerebrospinal fluid analysis showing albuminocytologic dissociation. Electromyogram and nerve conduction study confirm the diagnosis and allow for further classification by variant. Treatment involves either IV immune globulins or plasmapheresis, and patients typically recover. However, depending on the variant and severity, patients may ultimately require prolonged mechanical ventilation with tracheostomy. In these cases, they may continue to have persistent muscle and sensation abnormalities requiring long-term care. We present a unique case of a 38-year-old female patient with decade-long use of lithium for bipolar disorder that presented with acute lithium toxicity. Though she was ultimately diagnosed with AMSAN, the Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT) may have also contributed to her persistent neurological sequelae.

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