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Introduction: Mutations in the cytoplasmic dynein 1 heavy chain 1 gene (DYNC1H1) were first described in 2010 related to dominant lower extremitypredominant spinal muscular amyotrophy (SMA) 1 and after to Charcot-MarieTooth (CMT) disease, neurodevelopmental disorders, central nervous system malformations and hereditary spastic paraplegia. The aim this case report intends to show a recent known genetic mutation that can be related to two different conditions simultaneously — CMT and SMA. Case report: F.R.S, male, 49 years old, noticed proximal left hemiparesis in his childhood; he started walking late and had a lot of falls as a child. Cognitive development was normal. The motor deficit progressed to a right hemiparesis at the age of 39 years old. Deficit progression was noticed because he had difficulty to go up and down stairs. Non-consanguineous parents, family history positive for physical disability of unknown cause. Neurological examination evidenced cavus foot, amyotrophy and tetraparesis with distal predominance of the lower limbs. Electroneuromyography was compatible with progressive proximal SMA. Thoracic and cervical magnetic resonance imaging showed syringomyelia and Chiari malformation (CM) type 1. Gene panel was compatible with DYNC1H mutation. Discussion: It is well known DYNC1H1 mutation relation to CMT and SMA, but this case had some different conditions rarely described that also could be investigated to be related to this gene mutation as CM type 1 and syringomyelia. Conclusion: The gene mutation identification is important to physician to promote recognition of multiple associated conditions. Until now, there is no treatment for the described conditions, but eventually, it could change and neurologists must be prepared to look for multiple diseases related to specific genetic condition.

Introduction: Radiculopathy is a common condition whose symptoms can include pain, sensory change, and motor weakness owing to mechanical and chemical irritation of the spinal nerve root. The aim is to report atypical clinical presentation of radiculopathy secondary to neoplasia. Case report: A 62-year-old male patient was admitted with pain in the right scapular region of onset 2 months ago and progressive worsening. On patient admission, he presented isolated loss of strength in the right hand with force grade V in the proximal right upper limb and right dropped hand and living reflexes in the right upper limb. Thoracic/cervical spine magnetic resonance imaging with expansive formations in the thoracic bone marrow of neoplastic aspect, compressive fracture of the vertebral body of T1 with impairment of the thoracic cord, reduction of the vertebral canal at level C3-C4. Electroneuromyography: bilateral acute C8-T1 radiculopathy, worse right and chronic radiculopathy on the left. Subsequently, he evolved with brachial paraparesis, exalted global osteotendinous reflexes, and inexhaustible clonus in the lower limbs. C4-T5 posterior cervical arthrodesis was performed. Discussion: Cervical radiculopathy may leave the clinician perplexed by lack of clinical-radiological correlation. Of special interest is the weakness of the intrinsic hand muscles without radiological evidence for C8 radiculopathy. Overlapping with the T1 root, the C8 root innervates the finger flexors and all the intrinsic hand muscles. C8 radiculopathy is characterized by radicular neck pain, hand weakness, and sensory deficit of the ulnar fingers and medial forearm. Conclusion: The lack of clinical-radiological correlation should not mislead the clinician from the correct diagnosis, and should not delay the surgical decompression of the cord and the roots.

Introduction: Neuromyelitis optica (NMO) is a relatively rare inflammatory disease that primarily affects the spinal cord and optic nerves. Objectives: To report an atypical case of NMO in the child, with brainstem syndrome. Case report: A 12-year-old patient, 20 days after Pfizer vaccination for severe acute respiratory syndrome coronavirus-19 (SARS-COV-19), started with asymmetrical ascending flaccid paraparesis, with global arreflexia, ataxia, dysphagia and dysarthria. On admission, after 2 months, thought of acute polyradiculoneuritis, immunoglobulin was administered without improvement. However, the patient evolved with signs of pyramidal release, methylprednisolone was administered with a good outcome. Cerebrospinal fluid: cytology: 0/mm³, glucose: 59/mm³, protein: 34/mm³. electroneuromyography: upper and lower limbs show signs of polyradiculoneuritis in the hyperacute phase, the nature cannot be classified as myelin or axonal; Cranial magnetic resonance imaging (MRI): signal alteration compromising supra and infratentorial structures, T2/ FLAIR (T2-weighted-Fluid-Attenuated Inversion Recovery) symmetrical hypersignal in the bulbopontine transition suspicious for an demyelinating process. Cervical/thoracic spine MRI: no alterations. Anti Aquaporin-4 IgG: reagent. Discussion: Clinical features are frequently more diverse than just optic neuritis and transverse myelitis in children, making a diagnosis can be challenging. The case series of pediatric NMO have shown a female preponderance and almost all NMO-IgG positive, which had relapsing course predicted by seropositivity. The median age of children diagnosed with NMO ranges from 10 to 14 years. Coexisting autoimmune disorders were reported in 42%. Longer term immunotherapy reduce the chance of further potentially disabling attacks. Conclusion: Diagnosis of NMO isn’t easy, especially when patients are children, the disease is potentially severe and needs to be better understood and managed.

Introduction: Stiff Person syndrome (SPS) is a rare, immune-mediated neurological disease related to several antibodies, the most obvious being Antiglutamic acid decarboxilase (GAD). This case intends to show atypical clinical presentation of Stiff Person Syndrome, in which the patient started with ataxia and gait alteration, evolving with dimidiated spasms. Case report: L.S.M, male, 58 years old, denied previous comorbidities, smoking and alcoholism. He woke up with vertigo, associated with dysarthria and ataxia in the left side of the body. Two weeks after the onset of symptoms, he evolved with gait alteration and began to have episodes of painful, intermittent muscle spasms in the left upper and lower limbs. He presented negative serology for human immunodeficiency virus, syphilis and viral hepatitis, in addition to nonreagent rheumatological markers. Magnetic resonance imaging revealed a focus of signal alteration affecting the corticosubcortical surface of the cingulate gyrus on the right side, possibly corresponding to an inflammatory/demyelinating process. Cerebrospinal fluid analysis showed the presence of oligoclonal bands and anti-GAD reagent, with non-reactive anti-aquaporin 4. Discussion: The typical symptomatology of SPS involves the musculoskeletal component, representing up to close to 93% of the symptoms referred by the patients. Among other predominant symptoms, pain (82%) and bulbar dysfunction (47%) stand out. Some patients may have atypical symptoms, especially during the onset of symptoms. The case exposes the predominance of vertigo and ataxic symptoms, unusual for this stage of SPS, which may lead to difficulties in the investigation. Conclusion: Recognizing the atypical patterns of clinical presentation is an important responsibility of the neurologist, since early diagnostic elucidation is essential for defining the patient’s prognostic determination therapy.