Skin biopsy as an aid to diagnosis of disorders of the nervous system without cutaneous manifestations.

There are several neurological diseases wherein skin biopsy is useful for diagnosis, even in the absence of skin involvement. Skin biopsy is especially relevant in diseases in which the metabolic error is unknown or has no available diagnostic biochemical test. Skin biopsy, being relatively noninvasive, obviates the need for an invasive procedure such as a brain biopsy. These disorders wherein skin biopsies are particularly useful include the progressive myoclonic epilepsies, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), neuroaxonal dystrophy, and small fiber neuropathies (SFN). We review the role of skin biopsy in such conditions with notes on preferred sites and techniques.

Magnetic resonance imaging findings in brain resulting from high-voltage electrical shock injury of the scalp.

We report a case of high-voltage electrical injury to scalp, focusing on the magnetic resonance imaging (MRI) findings in brain. A 51-year-old male suffered burns to the right side of scalp and loss of consciousness following electric shock. Brain abnormalities were detected on MRI taken 4 days after the insult. Right parietal lobe neuroparenchyma beneath the scalp burn defect demonstrated homogeneous hypointensity on T1-weighted MR images, while T2-weighted images depicted hyperintensity mainly in white matter forming finger-like projections. Follow-up MRI showed that the abnormality had disappeared, indicating that the cerebral edema was reversible.

Cerebral Small Vessel Disease and Motoric Cognitive Risk Syndrome: Results from the Kerala-Einstein Study.

BACKGROUND: The contribution of cerebral small vessel disease to cognitive decline, especially in non-Caucasian populations, is not well established. OBJECTIVE: We examined the relationship between cerebral small vessel disease and motoric cognitive risk syndrome (MCR), a recently described pre-dementia syndrome, in Indian seniors. METHODS: 139 participants (mean age 66.6 ± 5.4 y, 33.1% female) participating in the Kerala-Einstein study in Southern India were examined in a cross-sectional study. The presence of cerebral small vessel disease (lacunar infarcts and cerebral microbleeds (CMB)) and white matter hyperintensities on MRI was ascertained by raters blinded to clinical information. MCR was defined by the presence of cognitive complaints and slow gait in older adults without dementia or mobility disability. RESULTS: Thirty-eight (27.3%) participants met MCR criteria. The overall prevalence of lacunar infarcts and CMB was 49.6% and 9.4% , respectively. Lacunar infarcts in the frontal lobe, but no other brain regions, were associated with MCR even after adjusting for vascular risk factors and presence of white matter hyperintensities (adjusted Odds Ratio (aOR): 4.67, 95% CI: 1.69-12.94). Frontal lacunar infarcts were associated with slow gait (aOR: 3.98, 95% CI: 1.46-10.79) and poor performance on memory test (ß: -1.24, 95% CI: -2.42 to -0.05), but not with cognitive complaints or non-memory tests. No association of CMB was found with MCR, individual MCR criterion or cognitive tests. CONCLUSIONS: Frontal lacunar infarcts are associated with MCR in Indian seniors, perhaps, by contributing to slow gait and poor memory function.

Motoric cognitive risk syndrome: multicountry prevalence and dementia risk.

OBJECTIVES: Our objective is to report prevalence of motoric cognitive risk syndrome (MCR), a newly described predementia syndrome characterized by slow gait and cognitive complaints, in multiple countries, and its association with dementia risk. METHODS: Pooled MCR prevalence analysis of individual data from 26,802 adults without dementia and disability aged 60 years and older from 22 cohorts from 17 countries. We also examined risk of incident cognitive impairment (Mini-Mental State Examination decline ≥4 points) and dementia associated with MCR in 4,812 individuals without dementia with baseline Mini-Mental State Examination scores ≥25 from 4 prospective cohort studies using Cox models adjusted for potential confounders. RESULTS: At baseline, 2,808 of the 26,802 participants met MCR criteria. Pooled MCR prevalence was 9.7% (95% confidence interval [CI] 8.2%-11.2%). MCR prevalence was higher with older age but there were no sex differences. MCR predicted risk of developing incident cognitive impairment in the pooled sample (adjusted hazard ratio [aHR] 2.0, 95% CI 1.7-2.4); aHRs were 1.5 to 2.7 in the individual cohorts. MCR also predicted dementia in the pooled sample (aHR 1.9, 95% CI 1.5-2.3). The results persisted even after excluding participants with possible cognitive impairment, accounting for early dementia, and diagnostic overlap with other predementia syndromes. CONCLUSION: MCR is common in older adults, and is a strong and early risk factor for cognitive decline. This clinical approach can be easily applied to identify high-risk seniors in a wide variety of settings.

Picture-based memory impairment screen for dementia.

OBJECTIVES: To develop and validate a picture-based memory impairment screen (PMIS) for the detection of dementia. DESIGN: Cross-sectional. SETTING: Outpatient clinics, Baby Memorial Hospital, Kozhikode city in the southern Indian state of Kerala. PARTICIPANTS: Three hundred four community-residing adults aged 55 to 94 with a mean education level of 8 years; 65 were diagnosed with dementia. MEASUREMENTS: PMIS: a culture-fair picture-based cognitive screen designed to be administered by nonspecialists. Diagnostic accuracy estimates (sensitivity, specificity, positive and negative predictive power) of PMIS cut-scores in detecting dementia (range 0-8). RESULTS: PMIS scores were worse in participants with dementia (1.5) than in controls (7.7, P < .001). At the optimal cut-score of 5, PMIS had a sensitivity of 95.4% (95% confidence interval (CI) = 90.3-100.0%) and a specificity of 99.2% (95% CI = 98.0-100.0%) for detecting dementia. In the 167 participants with <10 years of education, PMIS scores of five or less had a sensitivity of 97.8% (95% CI = 93.6-100.0%) and specificity of 99.2% (95% CI = 97.6-100.0%). The PMIS had better specificity than the Mini-Mental State Examination in detecting dementia, especially in older adults with low education. CONCLUSION: The PMIS is a brief and reliable screen for dementia in elderly populations with variable literacy rates.

Leukoencephalopathy with intracranial calcifications and cysts in an adult: Case report and review of literature.

Leukoencephalopathy, intracranial calcifications, and cysts (LCC) is a very rare cerebral disorder, first described in 3 children in 1996. It has subsequently been reported in adults and children from Europe and America, but has not so far been reported from Asia. We report an adult patient with pathologically proven LCC from a tertiary care hospital in South India. He presented with features of ataxia and raised intracranial pressure. Magnetic resonance imaging of the brain showed multiple bilateral cerebral cystic lesions along with diffuse white matter lesions in the cerebral and cerebellar white matter, and computed tomography of brain showed multiple calcifications in the white matter and basal ganglia. A large right cerebellar cyst causing mass effect was surgically excised. Histopathologic features were consistent with earlier reports of LCC and showed Rosenthal fibers, angiomatous changes, and calcifications. Our report suggests that although it is rare, LCC has a global distribution.

Gait and cognition in older adults: Insights from the Bronx and Kerala.

BACKGROUND: Recent reports indicate that gait dysfunction can occur early in the course of cognitive decline suggesting that motor and cognitive functions in older adults may share common underlying brain substrates, pathological processes, and risk factors. OBJECTIVE: This study was designed to report the association between gait and cognition in older adults in USA and the southern Indian state of Kerala. MATERIALS AND METHODS: Literature review of gait and cognition studies conducted in Bronx County, USA as well as preliminary results from the Kerala-Einstein study (Kozhikode city, Kerala). RESULTS: Review of published studies based in the Bronx shows that both clinical and quantitative gait dysfunction are common in older adults with cognitive impairment. Furthermore, clinical and quantitative gait dysfunction in cognitively normal older adults was a strong predictor of future cognitive decline and dementia. Our preliminary study in Kozhikode city shows that timed gait is slower in older adults diagnosed with dementia and mild cognitive impairment syndrome compared to healthy older controls. CONCLUSIONS: A strong association between gait and cognition is seen in seniors in USA as well as Kerala. A better understanding of the relationship between gait and cognition may help improve current diagnostic and therapeutic approaches globally.

Primary cardiac cytotoxic T-cell lymphoma presenting with neurological deficits: a case report.

BACKGROUND: Primary cardiac lymphoma is extremely rare in immunocompetent patients. Clinical manifestations vary, and, most often, diagnosis is not made until autopsy. The majority of reported primary cardiac lymphoma cases have been of B-cell origin, while T-cell cardiac lymphomas have been extremely rare. Occasionally, lymphomas and other systemic malignancies clinically present as paraneoplastic neurological syndromes. METHODS: We report a unique case of primary cardiac peripheral T-cell lymphoma of cytotoxic phenotype, clinically presenting with neurological features of external ophthalmoplegia and lower cranial nerve paresis mimicking mitochondrial cytopathy, that was recognized at autopsy. Brain and thoracoabdominal viscera retrieved at autopsy were fixed in 10% buffered formalin and processed for paraffin embedding. In addition to routine histology, immunohistochemistry for immunophenotypic characterization of lymphoma cells was performed. Fresh skeletal muscle was processed for cryosectioning and histochemical staining. RESULTS: On gross examination, the heart showed multiple circumscribed, whitish nodules on both sides. Histological examination of these nodules revealed lymphomatous deposits-cells expressing CD45, CD2, CD3, CD5, CD7, CD8, perforin, and granzyme B. Histological sections from the brain showed foci of demyelination and patchy perivascular lymphoid cell aggregates in leptomeninges and within the parenchyma. These lymphoid cells expressed CD2, CD3, and CD5, with the T cells being predominantly CD4 (CD4:CD8>2), which was unlike the CD8-predominant lymphomatous infiltrate in the heart. Hence, these lymphoid cells in the brain, rather than disseminated lymphoma cells, were considered to be related to the demyelinating process. There was no evidence of lymphomatous deposits in the rest of the viscera examined. CONCLUSION: A diagnosis of primary cardiac peripheral T-cell lymphoma of cytotoxic phenotype clinically manifesting as paraneoplastic demyelinating lesions in the brain was described.

Stroke with supernumerary phantom limb: case study, review of literature and pathogenesis.

OBJECTIVE: Constitute hypothesis for origin of supernumerary phantom limb (SPL) after stroke. METHOD: Single case description, review of literature and formulation of hypothesis. RESULTS: A 59-year-old lady was evaluated for complaints of left-sided hemiparesis and extra limbs attached to her left shoulder for the past 7 months. Neuropsychological assessment revealed left hemineglect with SPL, and profile suggested bilateral frontal, right parietotemporal and basal ganglia involvement. Magnetic resonance imaging brain scan showed gliotic cavity secondary to the old haematoma in right putamen with white matter changes in the right frontoparietotemporal lobes. CONCLUSIONS: The conceptual framework of body schema can be used to classify many of the neurological disorders of body representation. Generation of SPL comes under the subtype of pathology of updating among the disorders of body schema. The continuous updating allows the body schema to modulate perceptual processing of objects according to their position in space. Brain areas classified as parts of motor system can, under pathological conditions (haemorrhage), influence body perception. So, when she used to move her arm, the representation of the estimated position was not updated by the motor commands. Sensory and motor information therefore becomes discrepant, and failure to integrate these two sources of information leads to loss of normal coherence, and the perceived shape of the body was altered by adding a SPL to accommodate the discrepancy.

Cirrhosis presenting as Parkinsonism.

Cirrhosis presenting as Parkinsonism is a distinct subset of acquired chronic hepatocerebral degeneration. The entity is not rare, and unless suspected, cirrhosis can easily be overlooked. We report our experience with three such patients. They presented to us, over a period of two years, with symmetrical Parkinsonism and were later diagnosed to have cirrhosis with portal hypertension. All patients had minimal or absent tremors. Reversal of serum albumin to globulin ratio and evidence of cirrhosis on abdominal ultrasound were consistent. All three patients had the characteristic MRI abnormality of symmetrical T1 hyperintensity in basal ganglia and anterior midbrain. They improved to variable extents after treatment for cirrhosis, along with dopa agonists. We stress the importance of recognizing this syndrome and briefly review the relevant literature.

Periodic lateralized epileptiform discharges in neurosyphilis.

We report two patients of neurosyphilis with periodic lateralized epileptiform discharges (PLEDs) in the EEG. Patient 1, a 32-yr-old man manifested with rapidly progressive cognitive decline and abnormal behavior and recurrent generalized tonic-clonic seizures. EEG revealed periodic epileptiform discharges arising from the anterior temporal and frontal region, predominantly from the right. Diffusion weighted MRI of brain did not show any focal restricted diffusion. Patient 2, a 33-yr-old woman presented with 2-year history of behavioral abnormalities, generalized tonic-clonic seizures and unconcerned urinary incontinence. EEG revealed PLEDS arising from the left anterior temporal region. Her CT scan showed gross cerebral atrophy. Both the patients improved partially with treatment and PLEDs resolved completely. PLEDs may be recorded in EEG of patients with neurosyphilis without imageological evidence of focal cerebral lesion.