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By Hashim Khan, Tariq Ghafoor, Qudrat Ullah, Momina Javed
Page #: 501-502
ABSTRACT Infantile osteopetrosis is a congenital metabolic bone disorder caused by defective osteoclastic activity, which leads to increased bone density. The incidence of malignant infantile osteopetrosis, which has a recessive inheritance, is about 1 in 250,000 births, and autosomal dominant osteo...
By Javeria Ahmed Farooqa, Madiha Syed
Page #: 503-505
ABSTRACT Hybrid ganglioneuroma-schwannoma is an exceedingly rare tumour. The data are very limited, and only isolated case reports are available in the literature. These tumours are generally detected as an incidental finding on imaging. These are slow-growing, asymptomatic tumours that cause pressu...
By Irshad Hussain, Syed Muntazir Mehdi
Page #: 506-508
ABSTRACT Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene, with an estimated incidence of 1 in 1,000,000 children. Symptoms typically manifest in children around 6 to 18 months of age, beginning with loss of previo...
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