Prenatal diagnosis of lipomyelomeningocele by ultrasound and magnetic resonance imaging (MRI).

OBJECTIVE: The authors report a case of a lipomyelomengocele with tethered cord, revealed on prenatal ultrasonography and confirmed by fetal magnetic resonance imaging (MRI). MATERIALS AND METHODS: A 32-year-old woman, gravida 1 para 1 underwent the routine second trimester prenatal ultrasound scan at 22(+5) weeks of gestation at the present hospital. RESULTS: The scan indicated an echoic semisolid subcutaneous mass covered by skin, posterior to the lumbosacral spinal canal of the fetus. Based on the findings indicating occult dysraphism, a fetal MRI examination was conducted, revealing that the mass was extending to the spinal cord, tethering the cauda equina. The diagnosis of lipomyelomeningocele was established. CONCLUSION: Lipomyelomeningocele is a form of closed neural tube defect with unclear predisposing factors. Its prevalence ranges between 0.3 and 0.6 per 10,000 live births. It leads to progressive conus tethering with associated neurological, urinary, and gastrointestinal deficits, demonstrating the importance of prenatal diagnosis.

A case of nonarteritic anterior ischemic optic neuropathy of a male with family history of the disease after receiving sildenafil.

A 51-year-old male was referred to the University Eye Clinic of Ioannina with nonarteritic anterior ischemic optic neuropathy (NAION) 12 hours after receiving sildenafil citrate (Viagra(®)). Examination for possible risk factors revealed mild hypercholesterolemia. Family history showed that his father had suffered from bilateral NAION. Although a cause-and-effect relationship is difficult to prove, there are reports indicating an association between the use of erectile dysfunction agents and the development of NAION. Physicians might need to investigate the presence of family history of NAION among systemic or vascular predisposing risk factors before prescribing erectile dysfunction drugs.

Anterior ischemic optic neuropathy in a patient with Crohn's disease and aberrant MTHFR and GPIIIa gene variants.

Large spectrums of ophthalmic manifestations from the anterior to the posterior segment have been so far reported in patients with inflammatory bowel disease. Anterior ischemic optic neuropathy is caused by acute ischemic infarction of the optic nerve head and is distinguished in two different types, non-arteritic anterior ischemic optic neuroparhy (NAION) which is the most frequent type and arteritic anterior ischemic optic neuropathy. Non-arteritic anterior ischemic optic neuroparhy may result in severe visual field loss. We present the case of a 69 year-old man with known history of Crohn's disease that was referred to the Department of Ophthalmology after noticing sudden blurred vision of his left eye. Ophthalmologic examination revealed a corrected visual acuity of 8/10 OS and 10/10 OD. Pupil examination showed a relative afferent pupillary defect of the left pupil and fluoroangiography revealed hyperfluorescence of the left optic disc, indicating edema and NAION attack on his left eye. Genetic analysis showed that the patient was homozygous for MTHFR C677T genetic polymorphism and A1/A2 heterozygous for GPIIIa polymorphism.

Shaken baby syndrome: intending to harm or attempting to help?

PURPOSE: To describe the role of ophthalmologists in shaken baby syndrome evaluation. METHODS: Case report. RESULTS: A 3.5-month-old girl was admitted to the Pediatrics Clinic with lethargy. The mother, who brought in the baby, claimed that the baby had fallen from her cradle 6 hours ago. Clinical examination showed signs of head injury. Ophthalmologic examination was requested and revealed extensive retinal hemorrhages bilaterally covering the whole fundus, and retrohyaloid hematoma in the right eye. Computerized tomography neuroimaging documented large subdural hematomas exerting force on the brain parenchyma. The sum of the results of the clinical and neuroimaging examination-retinal hemorrhages and subdural hematomas-was indicative of violent shaking of the baby. Coronal evaluation was unable to determine whether the baby was abused by her parents or whether she was accidentally hurt. CONCLUSIONS: Ophthalmologic examination is necessary to document shaken baby syndrome since it reveals the retinal hemorrhages which together with the neuroimaging findings are almost always present in such cases. However, even when all the signs of shaken baby syndrome are present, it is difficult and sometimes destructive for a parent to be falsely accused of abusing his or her own child.