Systemic hyalinosis is inherited as an autosomal recessive disease. It may also be referred to as Fibromatosis hyalinica multiplex juvenilis and Murray-Puretic-Drescher syndrome. A four and a half-year-old female child presented with multiple soft tissue swellings involving the nose, orbital ridges, ears, bony prominences of the ulna and tibia and the parietal and occipital prominence and had gum hypertrophy. The diagnosis of this rare condition was based upon clinicopathological correlation, wherein the histopathological examination of cutaneous lesions reveals accumulation of hyaline material with fibroblast in the dermis. A multidisciplinary approach helped in correct diagnosis, management and in providing counseling for the parents. The child's parents were counseled about the surgical excision of the lesion; however, the parents opted for non-surgical conservative management.
In children with gross, persistent ascites wherein clinical scenario is not agreeable to common conditions, one needs to revise the diagnosis and rule out the surgical cause for abdominal distension mimicking ascites. We are reporting here, a case of two year old female child who presented with abdominal distension, clinically suggestive of ascites and subsequently diagnosed to have a large chylous mesenteric cyst which was determined on biochemical investigations, imaging and confirmed on surgical intervention. She was managed surgically with successful outcome.
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