NepMed is a Nepal MEDLINE(Medical Literature Analysis and Retrieval System Online) by Nepal Health Research Council(NHRC). It includes bibliographic information for articles from academic biomedical journals covering medicine, dentistry, nursing, pharmacy, dentistry veterinary medicine, and allied health sciences.
Recent Publications
Hay-Wells Syndrome
(Nepal Paediatric Society (JNPS), 2009) Gurubacharya, Simi Misra; Subedi, Kalpana; Aryal, Dhan Raj
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“Pyknodysostosis” A Case Report
(Nepal Paediatric Society (JNPS), 2009) Sapkota, Karna K; Gupta, Veena; Shrivastav, CP
Abstract:
Pyknodysostosis is a rare disorder of skeletal dysplasia that is inherited as an autosomal recessive genetic trait. Several mutations have been found in the gene encoding cathepsin K - a lysosomal cysteine protease and the gene situated at 1q21. A mutation in this gene leads to loss of enzyme for osteoclastic activities responsible for the metabolism of skeletal system leading to defective bone remodeling and resorption and various other skeletal abnormalities. Here we report a case of 12 year old female from mid-western hilly region of Nepal with Pyknodysostosis having fracture femur and other skeletal dysplasia.
The characteristic features of this syndrome are dwarfism, large open fontenelles, wide cranial sutures, small retrograde mandible, multiple fractures and osteosclerosis, dental abnormalities, short and broad hands and feet, blue sclera, multiple fractures and nail may be dysplastic.
Parietal Epidural Dermoid Mimicking a Scalp Abscess in an Infant: Case Report
(Nepal Paediatric Society (JNPS), 2009) Roka, Yam B; Bajracharya, A; Shrestha, K; Khaniya, S
Abstract:
Scalp masses that involve the scalp or the cranium especially over the parietal bone are uncommon presentation in infants. We report a case of an 8-week old female child who presented with a left parietal scalp mass which had been progressively increasing since birth. CT scan revealed the mass extending into the cranium with underlying bone defect over the parietal area, with medial extension till the sagittal suture. Intraoperatively there was presence of thick white infected flaky material with small tufts of hair which was removed completely till the bone edges and from the epidural space. There was no recurrence postoperatively and the baby was discharged after a week of antibiotics. This case provides an example that simple looking scalp masses in infants and children should be managed with caution to prevent further morbidity.
Disappearing Bone Disease with Disappearing Spleen!
(Nepal Paediatric Society (JNPS), 2009) John, BM; Singh, Daljit
Abstract:
A 6-year-old girl who reported for pain abdomen was incidentally detected to have multiple osteolytic lesions on X-ray. She was diagnosed as a case of Gorham's disease following confirmation with histopathology and kept on close follow-up. She was admitted again after 2 years for fever and investigations revealed an absent spleen apart from multicentric osteolytic lesions. This is the first case reported of a child with Gorham's disease who has had an auto-splenectomy on follow-up.