2 research outputs found
CHILD Syndrome
No full textAbstract: CHILD syndrome is a rare X-linked genetic disorder caused by mutation of NSDHL (NADPH steroid dehydrogenase-like protein) at Xq28 gene. The mutation causes the defective synthesis of cholesterol, which is an important constituent of viscera, hormones etc. The predominantly it affects the musculoskeletal with a tendency to involve the heart, brain etc. Strikingly the signs and symptoms of this syndrome involve only one half of the body. CHILD syndrome is commonly identified in the females. We report a case of 5-month-old female who presented to us at Pediatric outpatient department. To our knowledge this is the first reported case of CHILD syndrome in Pakistan. The exceptionally rare presentation prompted us to report this case
CHILD Syndrome
No full textCHILD syndrome is a rare X-linked genetic disorder caused by mutation of NSDHL (NADPH steroid dehydrogenase-like protein)at Xq28 gene. The mutation causes the defective synthesis of cholesterol, which is an important constituent of viscera, hormones etc. The predominantly it affects the musculoskeletal with a tendency to involve the heart, brain etc. Strikingly the signs and symptoms of this syndrome involve only one half of the body. CHILD syndrome is commonly identified in the females. We report a case of 5-month-old female who presented to us at Pediatric outpatient department. To our knowledge this is the first reported case of CHILD syndrome in Pakistan. The exceptionally rare presentation prompted us to report this case
