Sanfilippo syndrome may go un diagnosed if not picked up during well health visit
Journal Title: International Journal of Medical Science and Public Health - Year 2016, Vol 5, Issue 5
Abstract
Sanfilippo syndrome type B (Mucopolysaccharidosis IIIB) is a lysosomal storage disease resulting from deficiency of N-acetyl-glucosaminidase activity. A 12-month-old Saudi boy was presented to outpatient department in Assir Central Hospital, Saudi Arabia, with history of regression of milestone. Sanfilippo syndrome is a rare genetic disorder and can be missed easily during the routine health visit and it should be considered in the differential diagnosis of developmental delay or milestone regression and hence considering the subsequent investigation.
Authors and Affiliations
Alzahrani Mohammed Jamaan, Alqahtani Adbullah Abdullah, Dhafer Batti Alshehri
Keywords
Related Articles
- EP ID EP164478
- DOI 10.5455/ijmsph.2016.08012016315
- Views 81
- Downloads 0
A study of morbidity profile amongst construction workers at selected construction sites in Surendranagar city
Background: Work plays a central role in people’s lives – whether it is on a construction site, in an office or in a factory. Workers constitute a large & important sector of the world’s population. The two broad categor...
Disordered eating attitudes among secondary schoolgirls in Al-Iskan sector, Makkah Al-Mukarramah, Saudi Arabia
Background: A growing number of individuals are showing inappropriate eating behaviors and attitudes without having severe forms. Early and prompt recognition of mild forms can prevent the severe ones. Objective:...
A rapid appraisal of educational environment of an evolving medical school in northern India
Background: One needs to assess the learning environment to identify the lacunae so that appropriate and timely remedial measures can be undertaken and gaps can be bridged to enhance the students’ learning experience. Ob...
Religious distributions of knowledge and practices of sexual behaviors among young married women in India
Background: Sexually transmitted infections (STIs) remain one of the determinants of HIV transmission in India. Most interestingly, women have little knowledge of their basic physiological functions, which is a risk fact...
Pattern of peripheral arterial disease and serum lipid profile in patients with diabetes mellitus
Background: Diabetes mellitus is rapidly rising. Majority of patients with diabetes mellitus also have dyslipidemia [diabetic dyslipidemia (DD)]. DD has been found to be associated with increased risk of peripheral a...