scholarly journals Clinical features, diagnosis and therapy of familial haemophagocytic lymphohistiocytosis

2021 ◽  
Author(s):  
Gritta E. Janka ◽  
Maurizio Aricò
Keyword(s):  
Clinical Features ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Diagnosis And Therapy ◽  
Familial Haemophagocytic Lymphohistiocytosis

scholarly journals Molecular Diagnosis - An Indispensable Tool to Clinch the Diagnosis in Familial Haemophagocytic Lymphohistiocytosis – A Case Report with Review of Literature

2020 ◽  
Vol 7 (43) ◽  
pp. 2503-2507
Author(s):  
Nisha Bhaskar Meshramm ◽  
Rasika Uday Gadkari ◽  
Fatema Akbar Kamal
Keyword(s):  
Cytotoxic T Cells ◽  
High Morbidity ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Girl Child ◽  
Familial Form ◽  
Confirmatory Tests ◽  
Indispensable Tool ◽  
Familial Haemophagocytic Lymphohistiocytosis ◽  
Variable Presentation ◽  
Prompt Diagnosis

Haemophagocytic Lympho-Histiocytosis (HLH) includes variety of life-endangering conditions caused due to defective immunity and represented as uncontrolled hyperinflammatory response. HLH is mostly instigated by infection. Familial form is due to genetic defects in cytotoxic T cells & natural killer cells. HLH mostly goes unrecognized, and hence has high morbidity and mortality. Prompt diagnosis is critical to ensue curative treatment. Diagnosis of familial Haemophagocytic Lymphohistiocytosis is ellusive due to variable presentation, coexistence with other diseases, & select availability of confirmatory tests. We present a case of a 3-yearold girl child, with organomegaly, fever and pancytopenia diagnosis could not be reached for a long period.

Clinical features, diagnosis and therapy of pituicytoma: an update

2018 ◽  
Vol 42 (4) ◽  
pp. 371-384 ◽  
Author(s):  
F. J. Salge-Arrieta ◽  
R. Carrasco-Moro ◽  
V. Rodríguez-Berrocal ◽  
H. Pian ◽  
J. S. Martínez-San Millán ◽  
...  
Keyword(s):  
Clinical Features ◽  
Diagnosis And Therapy

Multiple Sclerosis and HTLV-I associated myelopathy/tropical spastic paraparesis are two distinct clinical entities

1996 ◽  
Vol 2 (2) ◽  
pp. 88-90 ◽  
Author(s):  
Fidias E Leon-S ◽  
Kimiyoshi Arimura ◽  
Mitsuhiro Osame
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Features ◽  
Spastic Paraparesis ◽  
Early Response ◽  
Blink Reflex ◽  
Tropical Spastic Paraparesis ◽  
Diagnosis And Therapy ◽  
Neurophysiological Data ◽  
Demyelinating Lesions ◽  
Radiological Studies

Multiple sclerosis (MS) and HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) can overlap in their clinical features and thereby cause difficulties for clinicians in relation to diagnosis and therapy. However, epidemiological biochemical, immunological, virological and radiological studies point to a number of significant differences. Recent comparative neurophysiological data, induding blink reflex studies, obtained in these disorders, is briefly reviewed here and provides additional evidence of difference. The abnormal blink reflex in patients with MS consist of prolonged latencies and absences of R1 and R2 responses and are mainly due to demyelinating lesions around the pons. In contrast, in HAM/TSP the blink reflex abnormalities frequently include an unusual early response, R/k, which is probably a consequence of interneuronal hyperexcitability around the brainstem. Thus these findings provide further support for our contention that HAM/TSP and multiple sclerosis are distinctly different both as clinical entities and in their underlying pathomechanisms.

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