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Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay
Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay
Department of Medicine
Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan
A Rare Aetiology Of Respiratory Failure In A 10-Year-Old Boy: Inflammatory Myofibroblastic Tumour., Ali Khawaja, Prem Kumar Maheshwar, Anwarul Haque, Ali Bin Sarwar Zubairi
A Rare Aetiology Of Respiratory Failure In A 10-Year-Old Boy: Inflammatory Myofibroblastic Tumour., Ali Khawaja, Prem Kumar Maheshwar, Anwarul Haque, Ali Bin Sarwar Zubairi
Department of Medicine
Primary neoplasms of the respiratory tract are rarely encountered in the paediatric population. Inflammatory myofibroblastic tumour (IMT) is a rare soft tissue mesenchymal tumour but a distinct disease entity accounting for less than 1% of all primary lung tumours. We report a case of a 10-year-old boy who presented with respiratory failure and left lung collapse. On flexible fiberoptic bronchoscopy, a pedunculated mass in the lower part of the trachea originating from the left main stem bronchus was identified. The patient subsequently underwent a left-sided pneumonectomy with complete resection of the mass. The histopathological analysis was consistent with IMT. Two …