The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA-binding high-mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2. Here, we report a novel nonsense mutation in one female patient with bilateral clinical anophthalmia, absence of all optic pathways, and other neurological abnormalities. The mutation, Q155X, creates a premature termination codon early in the transcriptional activation domain and is likely to be a null allele. Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development.

Our findings suggest that acute sinusitis in combination with severe intractable headache, varying degrees of altered level of consciousness, focal neurologic deficits, and/or signs of meningeal irritation should raise clinical suspicion for potential intracranial complications of sinusitis. These signs and symptoms should prompt early and aggressive evaluation and management, including neuroimaging studies, neurologic and otolaryngologic consultations, and intravenous antibiotics.

The distalmost location of the intussusception mass and presence of the dissecting sign on images obtained during contrast enema have a higher positive predictive value for failed reduction. Screening ultrasound decreases the number of unnecessary contrast enemas performed; however, classic pathologic lead points, such as Burkitt lymphoma and Meckel diverticulum, may be difficult to diagnose with the use of ultrasound. Laparotomy and laparoscopy are equally safe and efficacious in reducing intussusception, with the length of the hospital stay after laparoscopy significantly shorter than that noted after laparotomy. Most failed enema reductions are idiopathic, and pathologic lead points are noted in 25% of cases.

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For pediatric CT, the most accurate way to strike the balance between image quality and radiation dose is to adjust dose to abdominal circumference, not body weight or age. Our data support the use of technique optimization curves to optimize kVp and mAs.

The barium enema is a good initial screening test for Hirschsprung's disease in severely constipated children since it correlates well with manometry and biopsy. The enema is particularly useful in centers without easy access to pediatric gastroenterology services, and a normal enema in this setting allows the continuation of medical therapy with further evaluation only if there is a lack of response. An abnormal enema, however, requires referral to a facility equipped to perform confirmatory manometry or biopsy.

Ultrasound measurements in neonates with hypoplastic left heart syndrome suggest that superior mesenteric artery perfusion, as measured by resistive index, is impaired. Superior mesenteric artery diastolic flow reversal is common before and immediately after modified Norwood.

Acute paranasal sinus infection in children is often diagnosed clinically without the need for radiographic confirmation. Most cases have a favorable outcome following appropriate antibiotic therapy. A small percentage of cases where symptoms and signs are persistent or severe will require emergent imaging to rule out complications related to local spread of disease intraorbitally or intracranially. A strong index of suspicion is required in such cases, and cross-sectional imaging evaluation with CT and MRI should include axial and coronal images of the paranasal sinuses and, where appropriate, the orbits and brain (with attention to the cavernous sinus). There is no role for plain radiography in the evaluation of the complications of acute sinusitis in the pediatric patient.