2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.

This paper highlights the utility of 2D and 3D ultrasonography in the prenatal diagnosis of facial dysmorphisms suggestive of very rare syndromes such as 3-M syndrome. Two pregnant women at risk for fetal skeletal dysplasias were referred to our clinic for 2D/3D ultrasound scan in the second trimester of pregnancy. Only one of the patients had a familial history of 3-M syndrome. Karyotyping and genetic testing of abortion material were performed in both cases. 2D ultrasonography revealed growth retardation of the long bones in both cases. In the case without a familial history of the syndrome, 2D and 3D ultrasonography showed an absence of nasal bones and a flat malar region suggestive of 3-M syndrome, although the difficult differential diagnosis included other dysmorphic growth disorders with prenatal onset. The karyotype was normal but the pregnancy was terminated in both cases. Postmortem examination confirmed 3-M syndrome as indicated by prenatal findings. In high-risk cases with a familial history of 3-M syndrome, prenatal diagnosis of 3-M syndrome is possible by analyzing fetal DNA. In the absence of risk, a definitive prenatal diagnosis is often not possible but may be suspected in the presence of shortened long bones, normal head size and typical flattened malar region (midface hypoplasia) shown on complementary 2D and 3D sonograms. 2D and 3D ultrasonography has been shown to offer reliable information for the prenatal study of skeletal and facial anomalies and can be useful if there is a suspicion of 3-M syndrome in a pregnancy not known to be at risk.

DWI findings in a iatrogenic lumbar epidermoid cyst. A case report.

Epidermoid cysts comprise less than 1% of intraspinal tumors. They can be congenital, frequently associated with other spinal malformations, or iatrogenic, resulting from the implantation of epidermal cells within the spinal canal during the execution of a variety of procedures such as spinal puncture. At MR imaging epidermoid tumors can mimic cystic lesions with fluid content such as arachnoid cysts. DWI can help obtain a correct diagnosis. We describe a case of iatrogenic lumbar epidermoid cyst with DWI findings in a young woman who had undergone epidural anesthesia for Cesarean section three years before the onset of symptoms.

Large capillary telangiectasia and developmental venous anomaly of the Basal Ganglia: an unusual finding.

Brain capillary telangiectasias are small, benign, asymptomatic, angiographically occult lesions that are incidentally discovered either at autopsy or on MR imaging in most cases. They are commonly located in the pons and can be associated with other vascular malformations. We describe a case of an unusually large capillary telangiectasia associated with a developmental venous anomaly involving the basal ganglia in a young woman, in which MR serial imaging suggested the diagnosis and avoided an unnecessary stereotaxic biopsy.

MRI in a woman with late onset ornithine transcarbamylase deficiency.

We describe the brain MR imaging findings of a woman who developed neurologic symptoms due to an acute hyperammonemic encephalopathy resulting from late onset ornithine transcarbamylase deficiency (OCTD). MR images revealed injury (hyperintense foci on long TR images) to the subcortical white matter of the left precentral and supramarginal gyrus and in the left frontal lobe. These findings presumably reflect the distribution of brain injury from hypoperfusion secondary to severe hyperammonemia. If MR findings suggesting hypoperfusion are detected in a patient with hyperammonemia, the diagnosis of OCTD should be considered. Knowledge of the physiopathological mechanisms of OTCD and of MR imaging of hyperammonemic injury may help expedite diagnosis and treatment and prevent the exitus of patients with this genetic disorder.

Lumbosacral monolateral dislocation.

The authors describe a case of traumatic monolateral dislocation of L5 on S1. It is a very rare lesion which involves serious diagnostic and therapeutic problems. Surgical treatment constituted by reduction and stabilization alone can obtain stable correction of the deformity and complete functional recovery.

Two cases of cuneiform subcapitate osteotomy in the outcome of severe epiphysiolysis of the hip.

The authors describe two cases of subacute epiphysiolysis with severe slipping submitted to corrective subcapitate osteotomy of the femur with an anterior approach. The patients were followed-up after approximately 7 years, and satisfactory results were observed: movement in flexo-extension was preserved with mild limitation of intrarotation. The accuracy of the osteotomy during surgery is emphasized in order to avoid necrosis of the femoral head, and hypercorrection in valgus to avoid shortening.

Meniscectomy in children. Evaluation of results after growth has ceased.

The results of 28 total meniscectomies in children were reviewed after the end of the growth period. From a purely clinical point of view these were satisfactory in 26 cases and in the remaining 2 cases the poor results were due to faulty initial diagnosis. From the radiographic survey, 50% of cases showed early signs of degenerative arthritis in the femorotibial joint, but there was no evidence of the patellar syndrome. In meniscal lesions in children, the surgical approach should therefore be as conservative as possible.