Marcelo Nunes

Sensory Neuronopathy and Autoimmune Diseases

Sensory neuronopathies (SNs) are a specific subgroup of peripheral nervous system diseases characterized by primary degeneration of dorsal root ganglia and their projections. Multifocal sensory symptoms often associated to ataxia are the classical features of SN. Several different etiologies have been described for SNs, but immune-mediated damage plays a key role in most cases. SN may herald the onset of some systemic autoimmune diseases, which further emphasizes how important the recognition of SN is in clinical practice. We have thus reviewed available clinical, neurophysiological, and therapeutic data on autoimmune disease-related SN, namely, in patients with Sjögrens syndrome, autoimmune hepatitis, and celiac disease.

Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.

INTRODUCTION Dystonia is frequent in Machado-Joseph disease, but several important aspects are not yet defined, such as the detailed clinical profile, response to treatment and anatomical substrate. METHODS We screened 75 consecutive patients and identified those with dystonia. The Burke-Marsden-Fahn Dystonia Rating Scale was employed to quantify dystonia severity. Patients with dystonia received levodopa 600 mg/day for 2 months and were videotaped before and after treatment. A blinded evaluator rated dystonia in the videos. Patients with disabling dystonia who failed to respond to levodopa treatment received botulinum toxin. Finally, volumetric T1 and diffusion tensor imaging sequences were obtained in the dystonic group using a 3T-MRI scanner to identify areas of gray and white matter that were selectively damaged. RESULTS There were 21 patients with dystonia (28%): 9 classified as generalized and 12 as focal/segmental. Patients with dystonia had earlier onset and larger (CAG) expansions (28.9 ± 11.7 vs 40.6 ± 11.4; p < 0.001 and 75 vs 70; p < 0.001, respectively). Although group analyses failed to show benefit on levodopa (p = 0.07), some patients had objective improvement. In addition, ten patients received botulinum toxin resulting in a significant change in dystonia scores after 4 weeks (p = 0.03). Patients with dystonia had atrophy at pre- and paracentral cortices; whereas, non-dystonic patients had occipital atrophy. Basal ganglia volume was reduced in both groups, but atrophy at the thalami, cerebellar white matter and ventral diencephali was disproportionately higher in the dystonic group. CONCLUSION Dystonia in Machado-Joseph disease is frequent and often disabling, but may respond to levodopa. It is associated predominantly with structural abnormalities around the motor cortices and in the thalami.

Misdiagnosis of hemifacial spasm is a frequent event in the primary care setting

UNLABELLED Primary hemifacial spasm (HFS) is characterized by irregular and involuntary contraction of the muscles innervated by the ipsilateral facial nerve. Treatment controls symptoms and improves quality of life (QoL). OBJECTIVE Evaluate the initial diagnosis and treatment of HFS prior to referral to a tertiary center. METHOD We interviewed through a standard questionnaire 66 patients currently followed in our center. RESULTS Mean age: 64.19±11.6 years, mean age of symptoms onset: 51.9±12.5 years, male/female ratio of 1:3. None of the patients had a correct diagnosis in their primary care evaluation. Medication was prescribed to 56.8%. Mean time from symptom onset to botulinum toxin treatment: 4.34 ±7.1 years, with a 95% satisfaction. Thirty percent presented social embarrassment due to HFS. CONCLUSION Despite its relatively straightforward diagnosis, all patients had an incorrect diagnosis and treatment on their first evaluation. HFS brings social impairment and the delay in adequate treatment negatively impacts QoL.

Misdiagnosis Of Hemifacial Spasm Is A Frequent Event In The Primary Care Setting.

UNLABELLED Primary hemifacial spasm (HFS) is characterized by irregular and involuntary contraction of the muscles innervated by the ipsilateral facial nerve. Treatment controls symptoms and improves quality of life (QoL). OBJECTIVE Evaluate the initial diagnosis and treatment of HFS prior to referral to a tertiary center. METHOD We interviewed through a standard questionnaire 66 patients currently followed in our center. RESULTS Mean age: 64.19±11.6 years, mean age of symptoms onset: 51.9±12.5 years, male/female ratio of 1:3. None of the patients had a correct diagnosis in their primary care evaluation. Medication was prescribed to 56.8%. Mean time from symptom onset to botulinum toxin treatment: 4.34 ±7.1 years, with a 95% satisfaction. Thirty percent presented social embarrassment due to HFS. CONCLUSION Despite its relatively straightforward diagnosis, all patients had an incorrect diagnosis and treatment on their first evaluation. HFS brings social impairment and the delay in adequate treatment negatively impacts QoL.

Chronic meningitis, hydrocephalus and spinal paraplegia in non-systemic histoplasmosis.

A 27-year-old immunocompetent agricultural worker presented chronic meningitis and hydrocephalus. Despite CSF and systemic investigation no etiology was defined. Spastic paraplegia installed 15 years later. Spinal and brain MRI are displayed in Figures 1 and 2. The patient developed intracranial hypertension and died days later. A diagnosis of histoplasmosis was made at autopsy (Figure 3). Histoplamosis as isolated central nervous system disease is rare, being more common in immunosuppressed patients1,2. As in this case, it can be a challenging diagnosis, and should be considered in any brain or spinal cord lesion with granulomatous pattern.