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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital hypothyroidism (CH) is the commonest preventable cause of mental retardation in children worldwide. It continued to be a major health problem amongst Sudanese children. The lack of a screening programme in Sudan may be the major factor of missing the diagnosis in newborns with such a condition that can present very subtle clinically, yet with poor neurodevelopmental consequences. The outcome is very good when the condition is noticed early (in the first 2 - 3 weeks of life). However, the prognosis is guarded when the diagnosis is delayed, with a squeal of different degrees of developmental delay depending on the severity of the condition. In this overview, we tried to highlight the important issues of screening, diagnosis and outcome with and without early management, worldwide. We thereby send a call out for all paediatricians and endocrine clinicians who work locally or outside Sudan to collaborate with the Sudanese Society of Paediatrician as well as other stakeholders in Sudan to help establishing a national screening programme for all common and preventable causes of childhood illnesses which has devastating consequences such as CH.
Sudan J Paediatr 2012
PMID:Overview of diagnosis, management and outcome of congenital hypothyroidism: A call for a national screening programme in Sudan. 2749 40

Sturge-Weber syndrome (SWS) is a non-hereditary congenital disorder due to somatic mosaic mutations in the GNAQ gene. The classical presentation relates to the brain lesion (cerebral angiomatous lesion of leptomeninges, which is responsible for epileptic seizures, hemiparesis and mental retardation), skin lesion (unilateral facial nevus), ocular and oral involvement. We present a 12-year-old boy who was referred to the Division of Pediatric Neurology, King Saud University Medical City, Riyadh, Saudi Arabia with left-sided hemiparesis. Physical examination showed a port wine stain involving the right side of the face, extending to the upper thorax, and enlargement of both the right eye globe and cornea (megalocornea), indicating the presence of glaucoma. Following urgent referral to ophthalmology service, his eye condition improved dramatically post surgery. Neuroradiological investigations, including cranial computed tomography (CT) and magnetic resonance angiography (MRI) revealed the classical brain lesions of SWS, as well as right leptomeningeal choroidal angioma. Ten months later, he developed focal-onset seizures which responded to treatment. His cognition is normal with good school performance. Continued vigilance is needed to identify and manage the complications of SWS.
Sudan J Paediatr 2015
PMID:Sturge-Weber syndrome: Continued vigilance is needed. 2749 38