Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana

نویسنده

  • E.V. Badoe
چکیده

Introduction Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana. Method Documentation of rare neurological and genetic diseases over a five year period resulting from consanguinity (2010-2015) presenting to the Department of Child Health, Korle Bu Teaching Hospital, Accra. Results One of the three siblings with zeroderma pigmentosum was identified as the rare De Sanctis Cacchione syndrome which has not been previously reported from West Africa. Five cases of spinal muscular atrophy including three consecutive siblings with the disease, MCAD deficiency (1), inborn errors of metabolism (1), ceroid lipoid fuscinosis (6), a case of Meckel Gruber syndrome. Conclusion Rare neurological disease occurs in West African communities as a result of consanguinity.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The Impact of Motivation on the Work Performance of Health Workers (Korle Bu Teaching Hospital): Evidence from Ghana

Background: Motivation is a driver to health worker performance in most Ghanaian hospitals. In view of this, Ghana’s Ministry of Health has rolled out enough motivational policies to accentuate work performance of health workers. Objective: The focus of this study was to examine the impact of motivation and identify how intrinsic and extrinsic motivating ...

متن کامل

Mycobacterial species causing pulmonary tuberculosis at the korle bu teaching hospital, accra, ghana.

SUMMARY OBJECTIVE Characterize mycobacterial species causing pulmonary tuberculosis (PTB) at the Korle-Bu Teaching Hospital in Ghana. DESIGN Sputum smear positive samples, two (2) from 70 patients diagnosed as having tuberculosis, after they had consented, were collected from the Korle-Bu Teaching Hospital Chest Clinic between January and July 2003. SETTING Korle-Bu Teaching Hospital Chest ...

متن کامل

Foreign body inhalation: a review of patients at the Korle Bu Teaching Hospital, Accra, Ghana.

BACKGROUND Foreign body inhalation, a surgical emergency requiring prompt management to avoid morbidity and mortality , poses a diagnostic and management challenge to otolaryngologists. OBJECTIVE To assess the pattern of foreign body inhalation at the ENT Unit Korle Bu Teaching Hospital Accra, Ghana. METHODS The theatre records of patients managed for foreign body inhalation from Ist Januar...

متن کامل

Telecobalt Machine Beam Intensity Modulation with Aluminium Compensating Filter Using Missing Tissue Approach

Introduction: The present study aimed to generate intensity-modulated beams with Aluminium compensating filters for a conventional telecobalt machine based on the outputs of a treatment planning system (TPS) performing forward planning and cannot simulate directly the compensating filter. Materials and Methods: In order to achieve the beam intensity modulation during treatment planning with th...

متن کامل

Patterns of cardiovascular disease mortality in Ghana: a 5-year review of autopsy cases at Korle-Bu Teaching Hospital.

OBJECTIVES Our study examined age and sex patterns of cardiovascular disease (CVD) mortality among autopsy cases at Korle Bu Teaching Hospital (KBTH) in Accra, Ghana from 2006 to 2010. DESIGN All cardiovascular deaths diagnosed at autopsy in the 5-year period beginning January 2006 and ending December 2010 located in the autopsy logbooks of the Department of Pathology, KBTH, were analyzed for...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 3  شماره 

صفحات  -

تاریخ انتشار 2016