Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging.

We report a fetus with exencephaly diagnosed by fetal magnetic resonance imaging (MRI) at 17 weeks of gestation. Fetal ultrasound performed at 13 and 17 weeks of gestation suggested occipital encephalocele. However, the fetal MRI done at 17 weeks of gestation showed exencephaly and suggested amniotic bands as the cause. By providing early and precise information regarding the abnormality and the possible etiology, the fetal MRI enabled us to provide the couple and their families with accurate information regarding the low recurrence risk of this condition.

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and multiple congenital anomalies who was homozygous for the IVS8-1G-->C mutation. Following termination of pregnancy, both the elevated amniotic fluid 7-dehydrocholesterol level and the DHCR7 mutations were demonstrated. Two other newborn infants with IVS8-1G-->C/IVS8-1G-->C genotype are described. This report illustrates a severe phenotypic extreme of SLOS associated with a null genotype, underscores the complex relationship between SLOS and holoprosencephaly, and discusses the possible pathogenetic mechanisms of the development of holoprosencephaly in SLOS.

Pediatric rhabdomyosarcoma of the head and neck: is there a place for surgical management?

OBJECTIVE: To review and evaluate the place of surgical treatment in the management of rhabdomyosarcoma of the head and neck in children. DESIGN: Retrospective analysis of patient charts from January 1, 1972, to December 31, 1998. SETTING: Tertiary pediatric referral center. PATIENTS: Twenty-nine consecutive children with nonorbital head and neck rhabdomyosarcoma. INTERVENTIONS: Surgery, chemotherapy, and radiotherapy. MAIN OUTCOME MEASURES: Disease-free survival and long-term morbidity from treatment. RESULTS: Twenty patients had parameningeal and 9 had nonparameningeal head and neck tumors. All were treated with chemotherapy. For 18 patients, diagnostic biopsies were performed and they received radiotherapy. Eleven patients underwent surgery as definitive therapy. Using the Intergroup Rhabdomyosarcoma Study (IRS) staging system, 5 of these 11 patients had complete resection of tumor (IRS group I) and avoided radiotherapy. The other 6 patients required radiation because of compromised, regional, or incomplete resection of tumor. One had undergone regional resection with nodal involvement, and 2 had compromised resections with microscopic residual disease (IRS group II). Three had incomplete resections with gross residual tumor (IRS group III). Only 1 patient who underwent surgery ultimately died from recurrence at 2.7 years after an incomplete resection. The other 10 patients were relapse free at a median follow-up of 3.7 years (range 0.8-21.0 years). Long-term surgical morbidity was seen in 36% (4/11) of the patients and included facial nerve paralysis, trismus, and cosmetic deformity. CONCLUSIONS: Children with localized disease of the head and neck are able to undergo complete surgical resection, with low long-term surgical morbidity. By undergoing complete surgical resection, these children are able to avoid radiotherapy and its long-term complications, with no compromise in survival.

Lethal neonatal Menkes' disease with severe vasculopathy and fractures.

A male neonate presented with an acute onset of severe intra-abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New insights into the pathogenesis of Menkes' disease provided by DNA mutation analysis and difficulties in neonatal diagnosis are discussed. Menkes' disease should be considered in male infants with pathological fractures and other signs of connective tissue disease, even in the neonatal period.

Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness, and bronchial generation count.

Alveolar capillary dysplasia, a rare cause of neonatal pulmonary hypertension characterized by a developmental abnormality in the pulmonary vasculature, was diagnosed by lung biopsy in a male newborn maintained on nitric oxide therapy for 18 days. Autopsy confirmed the pulmonary vascular defect and demonstrated deficient airspace formation. In addition, a bronchial generation count was low, suggesting that the abnormal lung vascular development in this condition represents a special form of pulmonary hypoplasia that starts in early fetal life.

Cytospins--an alternative method for fine-needle aspiration cytology of the breast: a study of 148 cases.

The aim of this study was to evaluate the cytospin technique as an alternative method to prepare fine-needle aspiration (FNA) specimens of the breast. To do so, the cytology of 148 breast FNAs that had been prepared by the cytospin technique and that had histologic correlation, was reviewed. All the cases that were diagnosed as malignant by cytology were proved malignant after surgical excision, and there were no false-positive results. All but two cases diagnosed as benign by cytology proved to be benign on excision. The two false-negative cases were missed due to sampling error. The cytological features seen on cytospins were similar to those seen on conventional direct smears. The major advantage of this method is that no aspirate is unsatisfactory due to unskilled direct smear technique. This, along with its good correlation with histology, proves that the cytospin method is an effective alternative to conventional direct smears for breast FNA.