Abdominal aortic aneurysm and renal hamartoma in an infant with tuberous sclerosis.

A case is presented of an infant with tuberous sclerosis admitted with status epilepticus. When the seizures were controlled, it was found that the child was hypertensive. A large renal tumor and an abdominal aortic aneurysm was found during the hypertensive evaluation. She underwent abdominal aortic aneurysm resection and radical nephrectomy, and vascular continuity was re-established sucessfully with a Dacron prosthesis. The technique is illustrated. The reconstruction is patent one year following reconstruction. The etiology of the aneurysm is discussed.     

Practical office technics for physiologic vascular testing.

The development of the Doppler ultrasonic flow velocity detector has improved diagnostic accuracy in peripheral arterial occlusive disease. Survey of the peripheral vessels with the Doppler ultrasonic flow velocity detector, measurement of systolic arterial blood pressure at the ankle and arm, and exercise testing are three easily done tests which may be readily carried out in the doctor's office and which provide useful information. Noninvasive vascular testing should be in the armamentarium of all primary care physicians.     

Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation. METHODS: A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups. RESULTS: In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). CONCLUSIONS: Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrimal system anomalies.