Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature.

BACKGROUND: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India. METHODS AND RESULTS: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis. DISCUSSION: This is the first case report of occurrence of HIBM in North Indian population. Despite its unique clinical presentation, HIBM is frequently misdiagnosed resulting in unnecessary diagnostic and therapeutic interventions. A high index of suspicion of this rare myopathy along with proper clinical examination may go a long way in accurate prognostication and management of these patients.

Which Classification of Cavernous Sinus Syndrome is Better - Ishikawa or Jefferson? A Prospective Study of 73 Patients.

INTRODUCTION: Ishikawa and Jefferson are the two most commonly used systems used for the classification of cavernous sinus syndrome (CSS). However, relative utilities of these two classification systems have not been evaluated in detail in developing countries. In this study, we compared relative utilities of these two classification schemes in the evaluation of CSS. OBJECTIVE: To compare the utility of Jefferson and Ishikawa classifications in the evaluation of CSS. PATIENTS AND METHODS: A total of 73 consecutive patients of CSS were prospectively classified using either Ishikawa or Jefferson classification and relative utility of these two classification schemes in determining etiology of CSS was compared. RESULTS: While only 46.6% of patients could be classified using Jefferson classification, 95.5% of patients could be classified using Ishikawa scheme. CSS was classified as anterior, middle, and posterior in 17.8%, 21.9%, and 8.2% of patients, respectively, as per the Jefferson classification. As per the Ishikawa classification, 37% of patients each showed anterior and posterior CSS, 16.4% showed middle CSS, whereas 4.1% had whole CSS. Middle CSS was significantly associated with the presence of fungal infections (P = 0.045) as per Jefferson classifications, and anterior CSS was significantly associated with a vascular etiology (P = 0.005) as per Ishikawa classification. Overall, inflammatory causes were the most common cause for anterior CSS, while tumors accounted for maximum cases of posterior CSS. CONCLUSION: Although more number of patients could be classified using Ishikawa classification, there was no advantage of Ishikawa classification over Jefferson with regard to determination of etiology of CSS.