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Full-Text Articles in Medicine and Health Sciences
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
Botulism In Children: A Diagnostic Dilemma In Developing Countries, Muhammad Rehan Khan, Prem Kumar, Shahnaz Shahid, Anwarul Haque
Botulism In Children: A Diagnostic Dilemma In Developing Countries, Muhammad Rehan Khan, Prem Kumar, Shahnaz Shahid, Anwarul Haque
Department of Paediatrics and Child Health
Botulism is a well-known disease of the neuromuscular junction. It is a rare but curable cause of paralysis in paediatric population. In addition to classical clinical signs and symptoms, the diagnosis of botulism requires laboratory confirmation of intoxication by various biological tests. These include demonstration of botulinum toxin in serum or isolation of the Clostridium botulinum from stool/gastric aspirates. However, it is not always possible to confirm intoxication due to unavailability of technical facilities, especially in resource limited countries like Pakistan. Under these circumstances, electrophysiological studies serve as an excellent diagnostic tool. These studies can provide quick diagnosis of botulism …