Nervous System Diseases Commons^™

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 Descriptive Study To Find Possible Correlation Between Mri Findings Of Pituitary Gland And Serum Prolactin Level, Muhammad Azeemuddin, Rohana Naqi, Mohammad Wasay

Department of Medicine

Objective: To explore equation, if any, between findings of magnetic resonance imaging of pituitary gland and serum prolactin level.

Methods: The retrospective, descriptive study was conducted at the Department of Radiology, Aga Khan University Hospital, Karachi, and related to patients\' records from April 19, 2006 to April 23, 2009. Seventy patients underwent magnetic resonance imaging of brain for pituitary gland. Inclusion criteria were all patients referred with relevant clinical symptoms or deranged serum prolactin level. Patients who were claustrophobic or had a pacemaker, aneurysm clip, metallic foreign body in the orbit or with no laboratory investigation were excluded from the …