Search PubMedSearch

Biomedical subjects

R A Brinker

Publications and source records attributed to R A Brinker.

At least 19 recordsLinked to original sources

Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging.

A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gestational dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2.64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.

Adult

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple

Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging.

A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic examinations at 26 and 28.5 weeks demonstrated polyhydramnios and multiple skeletal, brain, and facial abnormalities. Magnetic resonance imaging, performed to further evaluate the fetal brain, confirmed the sonographic findings. However, MRI was not useful in further differentiating the diagnosis. A 1024-g, premature male fetus was delivered at 30 weeks' gestation and died within 30 minutes of delivery. The fetus had multiple congenital anomalies consistent with Pena-Shokeir syndrome type I.

Abnormalities, Multiple

Fine needle diagnosis in lumbar osteomyelitis.

Lumbar vertebral body and disk infection, presenting as low back pain, is a relatively uncommon disease but is seen more often in drug addicts. Radiographs show typical changes of infection of the lumbar vertebrae and adjacent disc. Under local anesthesia a fine needle is placed, saline injected, and aspirated. The entire needle-syringe unit is submitted to the bacteriology department. Pseudomonas infection is usually found. This method of diagnosis is simple, cost effective, well accepted by the patients, and can be done on outpatients.

Biopsy, Needle

Intracranial hemorrhage associated with meningioma.

Intracranial hemorrhage developed in two patients with meningioma without other apparent risk factors predisposing to hemorrhage. Bleeding has been reported to be associated with meningiomas regardless of the sex or age of the patient or the location of histological nature of the tumor. It can occur acutely without antecedent symptoms, often masking the tumor. The mechanism of hemorrhage is not clear. The complication has not been emphasized in the neurological literature and, although rare, should be considered in the differential diagnosis of intracranial hemorrhage.

Cerebral Hemorrhage

Hydrocephalus and dementia complicating spinal tumor. Case report.

Hydrocephalus and dementia associated with spinal mass lesions are well recognized. Removal of the spinal mass has sometimes resulted in relief of the dementia. This case demonstrates that the ventricular size may also become smaller after removal of the spinal mass.

Aged

Cerebral arteriovenous malformation and the primitive trigeminal artery.

A 27-year-old woman with a small cerebral arteriovenous malformation and a primitive trigeminal artery had subarachnoid hemorrhage. This case and a review of the literature suggest that some of the "spontaneous" subarachnoid hemorrhages reported in patients with a primitive trigeminal artery may have been due to rupture of an unrecognized small arteriovenous malformation or aneurysm.

Adult

Traumatic pseudoaneurysm and arteriovenous fistula involving the middle meningeal artery.

Two cases of traumatic pseudoaneurysm and arteriovenous fistula involving the middle meningeal artery are reported with a review of the world literature on these specific entities. The two conditions appear to evolve through similar mechanisms and may lead to a confusing clinical picture. High quality angiography is important in making an early diagnosis, prior to performing a definitive surgical procedure.

Aneurysm