Ultrasonographic prenatal diagnosis of isolated acephaly.

First trimester obstetric ultrasonography of a 32-year old female patient revealed a 13-week-old (according to the length of the femur and abdominal circumference) intrauterine live pregnancy with the absence of the fetal head. Medical abortus was performed with the diagnosis of acephaly and final diagnosis was confirmed by pathological and radiological examinations. We present and discuss the possible etiopathologic mechanisms of an acephaly case, which is described as acardia-acephaly complex in the literature, and usually appears in cases of twin reversed arterial perfusion sequence, but has not been previously reported as an isolated finding.

A rare cause of neonatal seizure: incontinentia pigmenti.

Incontinentia pigmenti (IP) is a rare genetic multisystem disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30% of cases with seizures and mental retardation. Seizures occurring as the presenting sign of IP are rarely reported. We report a case of a female newborn with IP who had seizures on day 4 of life, which were followed in her second month by the development of the characteristic cutaneous changes for IP. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures.

Clastogenicity of selective serotonin-reuptake inhibitors.

OBJECTIVE: Selective serotonin-reuptake inhibitors (SSRIs) are used in the treatment of various forms of psychiatric disorders. Preclinical studies in laboratory animals have indicated that SSRIs were not genotoxic, but clear results from in vitro testing of SSRIs in a human cell system are currently scarce. The purpose of this study was to investigate whether SSRIs might be genotoxic. Sertraline was chosen as model SSRI, since it appears to be at least as well-tolerated as other SSRIs and may even have a more favourable side-effect profile. Unlike fluoxetine, fluvoxamine and paroxetine, sertraline has low potential for pharmacokinetic drug interactions. So, sertraline would be considered first in the treatment of psychiatric disorders requiring SSRI therapy in the future. We therefore examined peripheral lymphocytes from sertraline-treated patients for both sister chromatid exchanges (SCEs), cells with a high frequency of SCEs (HFC) and chromosome aberrations (CA) to evaluate the clastogenicity of SSRIs. METHOD: Ten sertraline-treated patients meeting 'Structured Clinical Interview for DSM-IV' criteria for both generalized anxiety disorder and major depression were compared with 18 healthy volunteers and 18 non-treated patients with similar psychopathology. Sertraline hydrochloride was administered orally at 50 mg daily for 10 months to 1 year. The participants were selected on the basis of similar responses to a questionnaire assessing risk of genotoxicity related to other aspects of life. All participants had very similar lifestyles, medical histories, biological and dietary factors. All subjects were non-smokers. RESULT: A statistically significant difference between patients with both generalized anxiety disorder and major depression (sertraline-treated or non-treated) and healthy volunteer groups was found by both SCE frequencies and HFC percentages. Both patient groups showed higher frequencies of SCEs than the healthy controls. No statistically significant difference was found between SCE frequencies or HFC percentages observed in sertraline-treated and non-treated patient groups. No statistical difference was found between groups with respect to the frequency of CA. CONCLUSION: There are no adequate studies analysing the clastogenicity of SSRIs, in particular of sertraline. The SCE frequency, the percentage HFC and the frequency of CA in patients with both generalized anxiety disorder and major depression exposed to daily doses of sertraline do not indicate a possible clastogenic hazard. The increased SCE frequencies in patients with both generalized anxiety disorder and major depression in our study-irrespective of sertraline treatment-indicate a possible genotoxic effect. However, our observations were based on a limited number of patients; the results may be explained by psychogenic stress.

Short rib-polydactyly syndrome: a case report.

Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer).