Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.
Guillain–Barré syndrome (GBS) is a form of rapidly progressive, acute inflammatory demyelinating polyradiculopathy. Acute inflammatory demyelinating polyradiculopathy is the most common variant of GBS, especially in the western hemisphere. It is diagnosed without hesitation when it presents with its characteristic clinical features of ascending paralysis and areflexia. It is when an atypical presentation appears, with brisk or very brisk reflexes, that diagnosis becomes difficult. In this case, a patient who presented with progressive motor weakness, unilateral facial palsy, and hyperreflexia on examination is described in order to demonstrate a variant of GBS and its management. Keeping in mind that the management of the disease does not change with the variant, the diagnostic challenge that is put forward by those variants needs a focussed approach by physicians.
Pulmonary lung involvement in adult-onset Still’s disease (AOSD) can be classified into two categories: with or without acute respiratory distress syndrome. Interstitial fibrosis in AOSD is rare, occurring in less than 5% of cases. Here, the authors present a case of a 40-year-old male of Asian descent with a past history of hyperthyroidism who presented with fever, shortness of breath associated with cough, sore throat, diffuse arthralgias, pink-coloured rash, and hepatomegaly. Laboratory investigations revealed leukocytosis, abnormal liver function tests, negative antinuclear antibodies, and negative rheumatoid factor. Chest X-ray showed bilateral basal infiltrates, while high-resolution CT chest scan confirmed the diagnosis of interstitial lung disease in association with ASOD. This case suggested a direct association of AOSD and interstitial lung disease, but autoimmune pathogenesis is the only link synchronising both diseases and the exact mechanism of direct involvement is ambiguous.
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