We report a case that showed many of the features of the malignant hyperpyrexia syndrome following suxamethonium administration, in an unsuspected case of pseudohypertrophic (Duchenne) muscular dystrophy

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We describe an adolescent girl with non-paraneoplastic anti-NMDA-receptor encephalitis (ANMDARE), who despite persistence of the extreme delta brush (EDB) pattern for nearly 2 years in her serial EEGs, she exhibited a speedy and sustained response to immunotherapy. To the best of our knowledge, our patient had the longest persistence of the EDB pattern on EEG reported to date. Our patient illustrates that, although presence of EDB supports the diagnosis of ANMDARE, its presence and persistence may not be a reliable predictor of response to immunotherapy and overall clinical prognosis.

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder characterized by the impaired function of platelets that are essential for proper blood clotting and can lead to prolonged bleeding time. Patient with GT may experience menorrhagia, easy bruising, purpura, epistaxis, and gingival bleeding. Here, we report a case of a young male, who was presented with complaints of malena, epigastric pain, and generalized weakness. Computed tomography and magnetic resonance imaging showed hemoperitoneum and perihepatic hematoma, respectively. Later, he also developed black-colored stools and occasional cough. Coagulation profile was suggestive of Glanzmann thrombasthenia. The patient was treated symptomatically, and as the conditions improved, the patient was discharged in a stable state of health. Only up to 500 cases were reported regarding GT till this date. As GT is a rare disorder, it needs to be reported in the current clinical setting.

Menkes disease (MD) is a rare, lethal multisystemic disorder of copper metabolism characterized by cerebral and cerebellar neurodegeneration, fair skin with peculiar "kinky hair" and connective tissue abnormalities. It is an x-linked recessive disorder leading to copper deficiency which usually occurs in newborn babies which can even lead to death. The main characteristic features include low serum copper, developmental delay, osteopenia, tortuous vessels on imaging, hair changes, axial hypotonia, ceruloplasmin, elevated lactate levels, and recurrent respiratory tract infection. Here, we report the case of a 10-month-old male child presented with soft skin with wrinkling of skin, difficulty in holding neck, graying of hair, seizure, and respiratory tract infection. Thereby, he was diagnosed to have MD and was treated with copper supplements. However, the patient was expired at an age of 2 years. There are reports suggest that a critical period of 2 months of neonatal life within which the treatment showed a beneficial outcome with up to 50% successful cure rates. In India, very few cases are reported about this disease, which increases the relevance of this report. Further studies regarding this disease are necessary for establishing better treatment modalities. Early diagnosis and medical management of MD is crucial to improve the survival rate of patients.

Background & objectives:Tyrosine kinase inhibitors (TKIs) targeting the epidermal growth factor receptor (EGFR) have been evaluated in patients with advanced non-small cell lung cancer (NSCLC). Erlotinib and gefitinib are the first-generation EGFR-TKIs for patients with NSCLC. However, there is a paucity of studies comparing the effectiveness of these two drugs. Hence, this study was aimed to compare the effectiveness and safety of erlotinib and gefitinib in NSCLC patients.Methods:This study included 71 NSCLC patients who received EGFR-TKIs between 2013 and 2016. Adverse drug reaction of both erlotinib (n=37) and gefitinib (n=34) was determined and graded according to Common Terminology Criteria for Adverse Events grading system. Effectiveness was measured using response evaluation criteria in solid tumours and progression-free survival (PFS). Pharmacoeconomic analysis was performed by cost-effective analysis.Results:When comparing safety profile, both the drugs had similar adverse events except for dermal side effects such as acneiform eruption (51.4%), rash (54.05%) and mucositis (59.5%) for erlotinib and 20.6, 26.5 and 29.4 per cent for gefitinib, respectively. The PFS of the two drugs was compared to differentiate the effectiveness of erlotinib and gefitinib. There was no significant difference between the effectiveness of the two drugs. The pharmacoeconomic analysis showed that gefitinib was more cost-effective than erlotinib.Interpretation & conclusions:This study showed that erlotinib and gefitinib had similar effectiveness but gefitinib had a better safety profile compared to erlotinib. Therefore, gefitinib could be considered a better option for NSCLC patients compared to erlotinib. However, further studies need to be done with a large sample to confirm these findings.

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