A case of third trimester diagnosis of Cornelia de Lange syndrome.

AIM: The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome. CASE: A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1 week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome. CONCLUSION: The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary.

Spontaneous intracranial hypotension: clinical and neuroimaging findings in six cases with literature review.

Spontaneous intracranial hypotension (SIH) is an uncommon but increasingly recognized syndrome. Orthostatic headache with typical findings on magnetic resonance imaging (MRI) are the key to diagnosis. Delayed diagnosis of this condition may subject patients to unnecessary procedures and prolong morbidity. We describe six patients with SIH and outline the important clinical and neuroimaging findings. They were all relatively young, 20-54 years old, with clearly orthostatic headache, minimal neurological signs (only abducent nerve paresis in two) and diffuse pachymeningeal gadolinium enhancement on brain MRI, while two of them presented subdural hygromas. Spinal MRI was helpful in detecting a cervical cerebrospinal fluid leak in three patients and dilatation of the vertebral venous plexus with extradural fluid collection in another. Conservative management resulted in rapid resolution of symptoms in five patients (10 days-3 weeks) and in one who developed cerebral venous sinus thrombosis, the condition resolved in 2 months. However, this rapid clinical improvement was not accompanied by an analogous regression of the brain MR findings that persisted on a longer follow-up. Along with recent literature data, our patients further point out that SIH, to be correctly diagnosed, necessitates increased alertness by the attending physician, in the evaluation of headaches.

Examination of fetal nasal bone and repeatability of measurement in early pregnancy.

OBJECTIVE: To evaluate the examination and measurement of fetal nasal bone at 10-14 weeks of gestation. METHODS: The study included 501 fetuses in 496 consecutive pregnant women attending for the routine first-trimester ultrasound examination. The presence or absence of the fetal nasal bone was determined in the mid-sagittal plane and the length was measured by one of four examiners (measurement A; n = 501). A second measurement was taken by the same examiner (B, n = 300) and a different examiner repeated the measurement (C, n = 200) whenever possible. Measurements were made to the nearest 0.1 mm. The duration of one hundred consecutive examinations was recorded, as was that of another 100 consecutive routine first-trimester examinations without measuring the nasal bone. RESULTS: The median nasal bone length was 1.6 (0.8-2.4) mm, the median gestational age was 12 (10-14) weeks and the median crown-rump length (CRL) was 63 (32-90) mm. The fetal profile was examined in all 501 cases and the fetal nasal bone was present in all but one case (99.8%). No transvaginal scans were needed for the examination of nasal bone only. The average time for the sonographic examination (8.3 min) was not significantly different from the average time for first-trimester scans in which the fetal nasal bone was not measured (8.0 min). The fetal nasal bone length increased from 1.1 mm at a CRL of 35 mm to 2.1 mm at a CRL of 90 mm (nasal bone = 0.016 x CRL + 0.619, P < 0.001, r = 0.655). The repeatability coefficient for intraobserver measurements was 0.080 mm and the coefficient for interobserver measurements was similar (0.083 mm). CONCLUSIONS: The nasal bone can be detected from 10 weeks of gestation onwards. Consistent visualization and repeatable measurement of fetal nasal bone can be performed by an experienced sonographer in the first trimester without extending the length of time required for scanning or introducing the need for transvaginal sonography.