A 24-Year-Old Man With Spastic Ataxia and Hypodontia.

A 24-year-old man presented with progressive gait instability, marked spinal cord atrophy, and dental radiography showing the absence of several elements, microdontia, and taurodontia. What is your diagnosis?

Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report.

Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.

Case 318: Adult Polyglucosan Body Disease.

HISTORY: A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency. Clinical examination findings were suggestive of a length-dependent polyneuropathy. In addition, a right-sided Babinski sign was noted. Electromyography and a nerve conduction study corroborated a peripheral axonal sensorimotor neuropathy. MRI of the brain was performed.

Case 318.

HISTORY: A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency. Clinical examination findings were suggestive of a length-dependent polyneuropathy. In addition, a right-sided Babinski sign was noted. Electromyography and a nerve conduction study corroborated a peripheral axonal sensorimotor neuropathy. MRI of the brain was performed (Figure).

Distinct features in adult polyglucosan body disease: a case series.

Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD. By clinical phenotyping, detailed neuroimaging of both central nervous system and skeletal muscle, genetic and biochemical testing, we confront our findings with the classical presentation of adult polyglucosan body disease and emphasize the importance of a multidisciplinary approach when diagnosing these patients.

Intrathecal gadolinium-enhanced MR-cisternography for the detection of a petrous bone defect in a patient with spontaneous intraventricular pneumocephalus.

Spontaneous otogenic pneumocephalus is a rare entity. We describe the case of a 55-year-old patient with intraventricular pneumocephalus associated with a bony defect at the level of the right petrous bone caused by otomastoiditis. She presented herself at the emergency department with a 1-month history of progressive balance problems, tinnitus and fullness in the right ear. Head-CT showed pneumocephalus secondary to chronic otomastoiditis with focal erosion of the petrous bone. Nasal fluid analysis tested positive on the presence of beta-transferrin. MRI before and after intrathecal gadolinium administration showed leakage of gadolinium into the right mastoid air cells. The dural defect was closed by an artificial graft. Post-operatively, gait problems, rhinorrhea and tinnitus resolved, but of mild-to-moderate headache persisted at a 3-month outpatient evaluation. This article shows that CT is the imperative for the diagnosis of pneumocephalus and to detect the underlying cause. When there is doubt about the fistula location, MR-cisternography with gadolinium can be a valuable tool to detect or confirm the fistulous site.

Predictive value of JC virus PCR in cerebrospinal fluid in the diagnosis of PML.

OBJECTIVE: To assess the predictive value of JC virus (JCV) PCR in cerebrospinal fluid (CSF) in the diagnosis of progressive multifocal leukoencephalopathy (PML). METHODS: We conducted a retrospective database query to identify patients with positive CSF JCV PCR. Clinical features, final diagnosis and quantitative PCR results were obtained. RESULTS: A positive CSF JCV PCR had a PPV of 10.4% for the diagnosis of PML. A weakly positive PCR had a PPV of 1.6%, whereas a moderately to highly positive PCR had a PPV of 92.3%. A PPV of 0.0% was observed in immunocompetent patients and in patients without compatible clinical or radiological features. CONCLUSIONS: A false-positive CSF JCV PCR is highly prevalent in our clinical practice. This test should be reserved for patients with a clinical suspicion of PML and the quantitative result of the PCR should be taken into account when making the diagnosis of PML.

Crowned dens syndrome: a neurologist's perspective.

Crowned dens syndrome is an under-recognized entity that can mimic neurological disease, in particular meningitis or giant-cell arteritis. We present a 48-year-old woman presenting with an inflammatory meningitis-like syndrome with headache and neck stiffness. Lumbar puncture was normal and computed tomography (CT) of the atlantoaxial joint showed abnormal calcifications around the odontoid process, leading to a tentative diagnosis of crowned dens syndrome. In addition, signs of active inflammation in and around the dens were present on cervical MR imaging. Since CDS can mimic meningitis or giant-cell arteritis, neurologists should be aware of this entity. If CDS is suspected, the bone window on the head CT scan can lead to the diagnosis. On the other hand, asymptomatic periodontoid calcifications are common and should not preclude further investigations.

Face shape and face identity processing in behavioral variant fronto-temporal dementia: A specific deficit for familiarity and name recognition of famous faces.

Deficits in face processing have been described in the behavioral variant of fronto-temporal dementia (bvFTD), primarily regarding the recognition of facial expressions. Less is known about face shape and face identity processing. Here we used a hierarchical strategy targeting face shape and face identity recognition in bvFTD and matched healthy controls. Participants performed 3 psychophysical experiments targeting face shape detection (Experiment 1), unfamiliar face identity matching (Experiment 2), familiarity categorization and famous face-name matching (Experiment 3). The results revealed group differences only in Experiment 3, with a deficit in the bvFTD group for both familiarity categorization and famous face-name matching. Voxel-based morphometry regression analyses in the bvFTD group revealed an association between grey matter volume of the left ventral anterior temporal lobe and familiarity recognition, while face-name matching correlated with grey matter volume of the bilateral ventral anterior temporal lobes. Subsequently, we quantified familiarity-specific and name-specific recognition deficits as the sum of the celebrities of which respectively only the name or only the familiarity was accurately recognized. Both indices were associated with grey matter volume of the bilateral anterior temporal cortices. These findings extent previous results by documenting the involvement of the left anterior temporal lobe (ATL) in familiarity detection and the right ATL in name recognition deficits in fronto-temporal lobar degeneration.

Impaired recognition of body expressions in the behavioral variant of frontotemporal dementia.

Progressive deterioration of social cognition and emotion processing are core symptoms of the behavioral variant of frontotemporal dementia (bvFTD). Here we investigate whether bvFTD is also associated with impaired recognition of static (Experiment 1) and dynamic (Experiment 2) bodily expressions. In addition, we compared body expression processing with processing of static (Experiment 3) and dynamic (Experiment 4) facial expressions, as well as with face identity processing (Experiment 5). The results reveal that bvFTD is associated with impaired recognition of static and dynamic bodily and facial expressions, while identity processing was intact. No differential impairments were observed regarding motion (static vs. dynamic) or category (body vs. face). Within the bvFTD group, we observed a significant partial correlation between body and face expression recognition, when controlling for performance on the identity task. Voxel-Based Morphometry (VBM) analysis revealed that body emotion recognition was positively associated with gray matter volume in a region of the inferior frontal gyrus (pars orbitalis/triangularis). The results are in line with a supramodal emotion recognition deficit in bvFTD.