BACKGROUND: Spondyloepiphyseal dysplasia as a sign of untreated congenital hypothyroidism is rare nowadays due to implementation of neonatal screening and increased awareness of pediatricians to detect hypothyroidism earlier. But neonatal screening is not routinely done in the developing countries. Congenital hypothyroidism is still unrecognized in some parts of developing world. OBJECTIVE: To describe the clinical, radiographic features and to stress the importance of screening of hypothyroidism during infancy and childhood and its current management. METHODS: Detailed history, physical examination and investigations. CONCLUSION: This report underscores the importance of detailed family history and physical examination in the diagnosis of spondyloepiphyseal dysplasia due to untreated congenital hypothyroidism, which was not screened for hypothyroidism during neonatal life. Being a treatable cause, hypothyroidism should always be considered as differential diagnosis of spondyloepiphyseal dysplasia, especially if the patient belongs to the developing world.
Systemic mycosis caused by fungi (or dimorphic fungi) such as Histoplasma, emmonsia, candida & penicillium has emerged as an important opportunistic fungal infection in immunocompromised patient in South-East Asia. Several cases of opportunistic fungal infection has been reported but cytological diagnosis of disseminated (dimorphic) fungal infection has been reported in very few cases. Cytological diagnosis of these infections depending on the morphological characteristics has always been a challenge to practising cytologists. A case of rare disseminated fungal infection reported in a 45 year old seropositive male who is noncompliant on ART presented with ulcer over palate, fever, weight loss, occasional per rectal bleeding. On examination having bilateral cervical lymphadenopathy and hepatomegaly. On investigation-anaemia, high ESR, deranged liver function test, CD4 count 16/cumm, USG showed hepatomegaly, underwent FNAC cervical lymphnodes and guided FNAC of liver, which showed these organisms, but no pathogens were found with classical microbiological procedure. Patient was treated with itraconazole and amphotericine and showed improvement. This case illustrate the utility of FNAC in early diagnosis & management of rare infection & it also highlight the combined role of molecular technique and FNAC as an interdisciplinary approach for management of patient.
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