Cushing syndrome in the paediatric age group is very difficult to diagnose due to atypical presenting features in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome in children and it has characteristic gross and microscopic pathologic features. We report a case of PPNAD in a 16-year-old boy who was evaluated in our hospital with chief complaints of poor height velocity and rapid weight gain for 2-3 years before presentation. Proper evaluation showed ACTH-independent Cushing syndrome with normal imaging. Total bilateral adrenalectomy was performed followed by hormones replacement. 6 months after surgery, significant acceleration of height velocity was noticed. Patient also lost body weight and developed secondary sexual characteristics.
A construction worker in his 30s presented three times in 4 days with progressive upper and then lower limb weakness. On the first two occasions he had no systemic symptoms, but on the third presentation he had fever and cough, starting from day 4 of weakness. Examination identified weakness in all four limbs and areflexia, suggesting a peripheral neuromuscular disorder. Investigations were consistent with Guillain-Barré syndrome and additional COVID-19 (SARS-CoV-2) infection. The patient improved after immunoglobulin treatment. At least four cases of Guillain-Barré syndrome have been reported in the literature with concurrent COVID-19 illness in whom respiratory signs appeared a few days after the onset of neurological signs. With the incubation period for COVID-19 respiratory symptoms believed to be up to 14 days, it is possible that neurological symptoms could develop before respiratory and other symptoms. During the current pandemic, presence of concurrent COVID-19 infection needs to be considered in patients presenting with Guillain-Barré syndrome.
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Here, we present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin. He came with gradually progressive generalised weakness with easy fatigability for the past two months. No history of similar complaints in the past. On examination, he was pale and icteric with splenomegaly and Grade I hemorrhoids on systemic examination. On investigation, there was severe anaemia, pancytopenia (mixed picture on smear), vitamin B12 deficiency and raised Lactate Dehydrogenase (LDH). Haemoglobin electrophoresis showed co-inheritance of haemoglobin D-Punjab and beta thalassemia. After Pack Cell Volume (PCV) and B12 supplements, haemoglobin improved. He was counseled about his disease and advised regular follow-up.
Though the American society of hematology Guidelines and British guidelines do not recommend screening of thyroid diseases in cases of immune thrombocytopenia (ITP), more than 160 cases of hyperthyroidism associated with ITP have been reported. Numerous case reports would suggest that patients with ITP and concurrent hyperthyroidism would respond to control of thyroid disease rather than the standard ITP treatment. Although this issue is still debatable, we report a case of a young female with a previous diagnosis of hyperthyroidism which was not well controlled, had presented with severe thrombocytopenia. Initially, all work-up had been done to find out the cause of thrombocytopenia. After all normal reports except deranged thyroid function tests, the patient was labeled as ITP and started on steroids. Even after a few months of steroid treatment, platelet counts had not improved. However, after starting antithyroid drugs, platelet counts had become normalized.
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