Calretinin Staining in Anorectal Line Biopsies Accurately Distinguished Hirschsprung Disease in a Retrospective Study.

Introduction: The absence of submucosal ganglion cells does not reliably distinguish Hirschsprung disease from non Hirschsprung disease in anorectal line biopsies. Calretinin staining might be helpful in these biopsies. To determine its value, we analyzed calretinin positive mucosal neurites in anorectal line biopsies.

A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. Most patients with CPT1A deficiency present with hypoketotic hypoglycemia and hepatic encephalopathy. We describe an atypical case of an 8-year-old male with CPT1A deficiency presenting with chronic liver steatosis and cirrhosis.

Intracardiac Fungal Mass in a Term Neonate.

Systemic fungal infections pose insidious challenges in neonatal intensive care settings. We present the case of a 9-day-old male term neonate admitted for polymicrobial sepsis and hepatic dysfunction who later developed candidemia superinfection. Despite broad antifungal therapy, the fungemia was complicated by progressive growth of a fungus ball in the right ventricular outflow tract that threatened cardiac function.

Durable response of intracranial cellular hemangioma to bevacizumab and temozolomide.

Cellular hemangioma is a subtype of hemangioma that is associated with cellular immaturity and the potential for recurrence. Intracranial location of these lesions is extremely rare, and definitive treatment often requires radical neurosurgical resection. The authors report a case of a 12-year-old boy with a subtemporal cellular hemangioma.

Topically applied imiquimod inhibits vascular tumor growth in vivo.

Vascular tumors occur in approximately 10% of all infants and may be associated with significant morbidity. Available therapies for vascular tumors, such as systemic corticosteroids, vincristine, and interferon-alpha, may cause toxicity, limiting their use to complicated cases. Using a mouse hemangioendothelioma model, we investigated the efficacy and mechanism of action of imiquimod, a topically applied inducer of cytokines.