CT findings in a child with reflux oesophagitis.

We report the case of a 7-month-old boy who presented with a history of vomiting since birth. A computed tomography study showed circumferential thickening of the lower oesophageal wall with enhancement of the mucosa. After a period of antireflux medication, the patient underwent simultaneous oesophageal dilatation and Nissen fundoplication. He is doing well at 2-year follow up.

Combined TSC1 and LMX1B mutations in a single patient.

Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes. The father, who has both disorders, has passed on TSC to three of his children, NPS to another three, and both TSC and NPS to one child. Patients carrying both mutations appear to show an additive phenotype and no obvious epistatic effects. The segregation of two dominant disorders in this family poses a challenge for genetic counseling and indicates the importance of a careful clinical and molecular evaluation for accurate risk assessment.

Favorable response to treatment of a child with T-cell-rich large B-cell lymphoma presenting with liver failure.

The authors describe the successful management of a child with T-cell-rich large B-cell lymphoma (TCRBCL) involving the lymph nodes and liver, causing severe hepatic dysfunction. After immunohistochemical confirmation of the diagnosis, the patient was treated initially with low-dose, non-hepatotoxic chemotherapy and irradiation to the porta hepatis. Chemotherapy was gradually escalated to intensified B cell-lymphoma treatment regimens (CHOP, CYVE, COPAdM) as liver function improved. Despite prompt and notable response in the lymph nodes, the intrahepatic nodular lesions persisted radiologically. Liver function tests normalized during the course of treatment. However, radiologic studies of the liver showed abnormal regeneration with a predominant left lobe overshadowing a tiny right lobe. The patient remains in remission more than a year after completion of treatment. Judicious use of chemotherapeutic agents with or without local radiotherapy may influence the outcome and survival in children with TCRBCL involving the liver and causing abnormal hepatic function.

Air emboli in the intracranial venous sinuses of neonates.

Air bubbles in the intracranial venous sinuses are known as a consequence to different causes including trauma, infection, and administration of intravenous contrast. Most of the previous reports demonstrated such cases in adults, with subsequent complications. We are presenting two premature babies who developed asymptomatic air bubbles in the right cavernous and left transverse sinuses, introduced accidentally upon cannulation of scalp veins. In both babies the air embolism disappeared in a few days without complications. Our cases suggest that these accidents could happen more frequently in neonates following scalp vein cannulation, which is a common procedure in sick babies, but they were overlooked as the outcome was uneventful. However, the precise nature and clinical significance of this lesion is not well understood in neonates.