SAGE Open Med Case Rep
February 2024
The chromosomal band 17q12 is characterized by a high density of genes and is bordered by segmental duplications, the structural arrangement of which increases the susceptibility of the region to deletions and duplications. Duplication of 17q12 is a rare genetic condition associated with variable characteristics from clinically asymptomatic to intellectual disabilities, seizures, and behavioral problems. The variability in phenotype is primarily due to variable expressivity and incomplete penetrance.
View Article and Find Full Text PDFHirschsprung's disease (HD) is a rare condition that affects newborns and is characterized by the lack of ganglion cells in the colon. Typical symptoms include difficulty passing stool, vomiting, and trouble feeding. Various surgical methods are available to manage the condition.
View Article and Find Full Text PDFLung cancer can present with unilateral atypical facial pain, a rare symptom due to vagus nerve involvement or paraneoplastic syndrome. This manifestation is usually missed, delaying the diagnosis and prognosis. We discuss a case of a 45-year-old male who presented with right-sided hemifacial pain and with normal neurological investigations.
View Article and Find Full Text PDFAttention deficit hyperactivity disorder (ADHD) is a common childhood disorder, with only 2-3% prevalence into adulthood. The epidemiology and proposed causes of ADHD are multifactorial, including genetic, prenatal and environmental influences. The diagnosis of ADHD is often complicated by masking coping mechanisms, an overlap of symptoms with other, more commonly diagnosed disorders.
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