We present a case of disseminated Chromobacterium violaceum sepsis with multiple liver and splenic abscesses presenting with skin lesions and cardiogenic shock, and later diagnosed to have chronic granulomatous disease. The patient was treated with prolonged antimicrobial therapy, after which she recovered and remained asymptomatic on follow-up.
Sotos syndrome (Cerebral Gigantism) a rare genetic disorder is usually characterized by macrocephaly and typical facial gestalt. There is a spectrum of behavioral and cognitive problems associated with it. We present a case of 11-year-old boy who presented with coordination issues, academic difficulties along with host of behavioral problems. On examination he was tall and had macrocephaly with typical facial gestalt. His educational assessment revealed the presence of developmental co-ordination disorder (DCD) which was confirmed by Bruininks Otseretsky Motor Proficiency (BOTMP) and developmental co-ordination disorder questionnaire (DCD e 2007). On further assessment he also had an element of attention deficit hyperactivity disorder (ADHD) for which he was started on methylphenidate. In view of presence of both ADHD and DCD we used a multipronged approach while treating him; both medical and behavioral therapies were used. Although Sotos syndrome is well described in literature and known to be associated with several behavioral disorders, we couldn't find any previously reported association with DCD.
The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutation of CaSR.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.