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Abstract Background HINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of myasthenia gravis (MG) and HINT1-related motor axonal neuropathy without neuromyotonia. Case presentation A 32-year-old woman presented with recurrent ptosis for 8 years, diplopia for 2 years and limb weakness for 1 year and a half. Neostigmine test, elevated AChR antibody level and positive repetitive nerve stimulation supported the diagnosis of MG. Electroneurography (ENG) and electromyography (EMG) examinations revealed a motor axonal neuropathy without neuromyotonic or myokymic discharges. Next-generation sequencing and Sanger sequencing were performed to identify the gene responsible for suspected hereditary neuropathy. Genetic testing for a HINT1 mutation was performed and revealed a homozygous mutation at c.278G>T (p. G93V). The patient was treated with pyridostigmine, oral prednisolone and azathioprine. Her ptosis and diplopia have significantly improved at 6-month follow-up. Conclusions Concurrence of MG and hereditary motor axonal neuropathy without neuromyotonia is quite rare. Detection of ptosis with or without ophthalmoplegia, distribution of limb weakness, and reflex can help in recognizing the combination of MG and peripheral neuropathy. Early diagnosis is important for initial treatment and prognosis. The novel homozygous variant c.278G>T(p.G93V) contributes to the pathogenic variants spectrum of the HINT1 gene.

Background: HINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of myasthenia gravis (MG) and HINT1-related motor axonal neuropathy without neuromyotonia. Case presentation: A 32-year-old woman presented with recurrent ptosis for 8 years, diplopia for 2 years and limb weakness for 1 year and a half. Neostigmine test, elevated AChR antibody level and positive repetitive nerve stimulation supported the diagnosis of MG. Electroneurography (ENG) and electromyography (EMG) examinations revealed a motor axonal neuropathy without neuromyotonic or myokymic discharges. Next-generation sequencing and Sanger sequencing were performed to identify the gene responsible for suspected hereditary neuropathy. Genetic testing for a HINT1 mutation was performed and revealed a homozygous mutation at c.278G>T (p. G93V). The patient was treated with pyridostigmine, oral prednisolone and azathioprine. Her ptosis and diplopia have significantly improved at 6-month follow-up. Conclusions: Concurrence of MG and hereditary motor axonal neuropathy without neuromyotonia is quite rare. Detection of ptosis with or without ophthalmoplegia, distribution of limb weakness, and reflex can help in recognizing the combination of MG and peripheral neuropathy. Early diagnosis is important for initial treatment and prognosis. The novel homozygous variant c.278G>T(p.G93V) contributes to the pathogenic variants spectrum of the HINT1 gene. [ABSTRACT FROM AUTHOR]

Lead poisoning following retained gunshot pellets resulting in recurrent episodes of encephalomyeloneuropathy is rare and association of intracranial aneurysm with lead poisoning is interesting. The case report describes about a 58-year ayurvedic doctor who was hospitalized for recurrent abdominal pain and limb weakness appearing spontaneously and improving in a few days to weeks. He had 20 such attacks in last 30 years starting at 25 years after the gunshot wound that resulted in retention of 2 lead pellets in his skull. Cranial imaging demonstrated left posterior communicating aneurysm. His initial blood lead level was 206.10 µg/dl, and following chelation with oral d-penicillamine, the lead level declined and was asymptomatic. After 4-year follow-up, he developed subarachnoid hemorrhage, which was managed with intravascular coiling of the ruptured aneurysm. The gunshot pellets are generally not removed, especially, if they are in inaccessible location. Our patient highlights that such cases should be closely monitored. [ABSTRACT FROM AUTHOR]

Introduction: Guillain-Barré syndrome (GBS) is an autoimmune polyradiculoneuropathy subdivided in demyelinating and axonal types. There is no established frequency about the electrophysiological subtypes in Mexico. Objective: to determine the frequency of electrophysiological subtypes of GBS in Mexican patients. Material and methods: The study design was descriptive and retrospective. Patients with GBS older than 15 years without coexisting major diseases were selected retrospectively from a three-year period. These patients should have met the clinical and electrophysiological criteria of GBS. Motor nerve conduction studies were made of the median, ulnar, tibial and peroneal nerves, and antidromic sensory conduction studies were performed in the median, ulnar and sural nerves. Descriptive statistics, analysis of variance and ?2 test were used. Results: The study included fifty-one patients with median age of 45.5 years (range 16-79); 37 men and 14 women, with a ratio man-woman 2.6:1; 37% were observed in winter (p = 0.56). The electrophysiological subtypes were acute motor axonal neuropathy (AMAN) 39 %; acute inflammatory demyelinating polyneuropathy (AIDP) 23.5 %; mixed neuropathy (MN) 20%; and acute motor sensory axonal neuropathy (AMSAN) 17.5 %. Conclusions: the most frequent electrophysiological subtype in Mexican patients was AMAN. Other frequent subtypes were MN and AMSAN. Axonal variants were the predominant types. [ABSTRACT FROM AUTHOR]

An acute motor axonal neuropathy developed within 4 days of the appearance of the varicella rash in a 26-year-old male reported from the University of Geneva, Switzerland.

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating disorders characterized by iron deposition in the brain. Mutations in C19orf12 cause autosomal recessive inherited mitochondrial membrane protein-associated neurodegeneration (MPAN), which may account for up to 30% of NBIA cases. The C19orf12 gene product is an orphan mitochondrial membrane protein, and most mutations are predicted to cause loss of function. From 67 MPAN cases so far reported, we describe here the clinical, radiological, and genetic features. Key clinical features are pyramidal and extrapyramidal signs, cognitive decline, neuropsychiatric abnormalities, optic atrophy, and motor axonal neuropathy. Magnetic resonance imaging shows the eponymous brain iron accumulation in globus pallidus and substantia nigra and in some cases a hyperintense streaking of the medial medullary lamina. The latter sign may discriminate MPAN from other NBIA subtypes. In two postmortem MPAN cases, neuropathology showed axonal spheroids, Lewy bodies, and hyperphosphorylated tau-containing inclusions., (© 2013 Elsevier Inc. All rights reserved.)