Hansen's Neuritis Revisited - A Clinicopathological Study.

INTRODUCTION: Leprosy affecting the nerve solely or with concomitant skin lesions is not an uncommon condition in clinical practice. It is responsible for extensive morbidity and often poses a diagnostic challenge. This study aims to highlight the clinicopathological features of Hansen's neuritis (HN). MATERIALS AND METHODS: In this retrospective study, cases of histologically diagnosed HN, from January 2010 to July 2017, were reviewed in the light of clinical features, treatment history, and outcome. RESULTS: There were 18 cases of HN which accounted for 3.97% of total nerve biopsy samples (n = 453) and 0.02% of total histopathology samples (n = 81,013). The male: female ratio was 5:1 in the cases of HN. Age range was 20-79 years with a mean age of 42.4 years (standard deviation: ±14.03). Among the HN cases, there were 13 cases of pure neuritic leprosy (61.1%). Mononeuritis multiplex was the most common finding in the nerve conduction study. Six (33.3%) cases exhibited histological features of borderline tuberculoid leprosy, followed by five (27.8%) cases of mid-borderline features, three (16.7%) cases each of borderline lepromatous and burnt-out HN, and one (5.6%) case of polar tuberculoid leprosy. Lepra bacilli were detected on Fite-Faraco stain in 44.4% cases. CONCLUSION: Diagnosis of HN depends on astute search for skin lesions, nerve thickening or tenderness, sensory or motor symptoms, histopathological examination, and demonstration of lepra bacilli.

Sensitivity of current criteria for the diagnosis of behavioral variant frontotemporal dementia.

BACKGROUND: Diagnosis of behavioral variant frontotemporal dementia (bvFTD) relies on criteria that are constraining and potentially ambiguous. Some features are open to clinical interpretation and their prevalence unknown. This study investigated the sensitivity of current diagnostic criteria in a large group of patients with bvFTD. METHODS: Forty-five patients with clear evidence of bvFTD as judged by progressive clinical decline (>3 years) with marked frontal features and significant frontal brain atrophy on brain MRI were included. Thirty-two have died; pathologic confirmation of frontotemporal lobar degeneration was found in all 18 coming to autopsy. We established the prevalence of core and supportive diagnostic features at presentation and with disease progression. RESULTS: Only 25/45 patients (56%) showed all five core features necessary for a diagnosis of bvFTD at initial presentation and 33/45 (73%) as their disease progressed. Two core features, emotional blunting and loss of insight, were never observed in 25% and 13% of cases. Executive dysfunction, hyperorality, mental inflexibility, and distractibility were the only supportive features present in >50% of cases at initial presentation. Although not a diagnostic feature, impaired activities of daily living was present in 33/45 patients (73%). CONCLUSIONS: Strict application of the criteria misses a significant proportion of patients. Many supportive features have low prevalence and are clinically not useful. Revision of the criteria to include level of certainty (definite, probable, possible) dependent on the number of features present and the presence of ancillary information (e.g., brain atrophy, neuropsychological abnormalities, impaired activities of daily living) is encouraged.

Can progressive and non-progressive behavioural variant frontotemporal dementia be distinguished at presentation?

BACKGROUND: Recent findings suggest that patients with behavioural variant frontotemporal dementia (bv-FTD) differ in their disease progression (progressive vs non-progressive patients). The current study investigates whether the two groups can be discriminated by their clinical features at first presentation. METHODS: Archival clinical data of the Early Onset Dementia Clinic, Cambridge, UK, were analysed for 71 patients with bv-FTD: 45 progressive and 26 non-progressive cases with more than 3 years of follow-up. RESULTS: The subgroups were largely indistinguishable on the basis of the presenting clinical features but could be distinguished on general cognitive (Addenbrooke's Cognitive Examination-revised) and selected supportive diagnostic features (distractibility, stereotypic speech, impaired activities of daily living (ADLs) and current depression). CONCLUSIONS: Progressive and non-progressive patients are difficult to differentiate on the basis of current clinical diagnostic criteria for FTD but a combination of general cognitive, executive dysfunction and impaired ADL measures appear to be the most promising discriminators.

An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?

This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric abnormalities should warrant further genetic investigation of chromosome 17p11.2 deletion site as it may be a promising region for containing a gene(s) of aetiological importance in the development of the GTS phenotype. Alternatively, the co-occurrence may be due to the common endophenotypic mechanisms shared by these disorders, rather than being specific for GTS that could be explored using strategies of quantitative trait loci - endophenotype-based approach. Research into this genomic region may also benefit psychiatric genetic research in enhancing understanding of the biological and molecular underpinnings of common behavioural problems that are seen in both GTS and SMS. This would lead to advancement in neurobehavioural/neuropsychiatric genetics which will help in further explaining the broader perspective of gene-brain-behaviour interrelationships.

An unusual late complication of intracerebral haematoma in herpes encephalitis after successful acyclovir treatment.

This is a case report of PCR proven herpes simplex (HSV-1) encephalitis in a 26 years old immunocompetent adult taking an unusual course of acute intracerebral haematoma after successful and complete recovery with acyclovir therapy. This transient late complication was associated with a negative repeat CSF PCR for HSV suggesting that the initial 14 days course of acyclovir was successful in the eradication of the herpes virus infection as recommended by the International Herpes Management Forum (IHMF). The location of the haematoma corresponded to the initial encephalitic area involving the medial temporal lobe structures. Despite this late neuroradiologic complication, after day 18 of symptom onset, the patient had a favourable neurological outcome. To the best of our knowledge, this is the second report of the unusual, rare, and late neuroimaging complication of acute intracerebral haematoma formation after complete recovery from treated HSVE with favourable clinical outcome. The literature is reviewed and plausible aetiology is discussed.