Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.

[Prenatal treatment of neonatal hemochromatosis with maternal administration of intravenous immunoglobulins (about four cases)]. / Traitement anténatal préventif de l'hémochromatose néonatale par administration maternelle d'immunoglobulines intraveineuses (à propos de quatre observations).

OBJECTIVES: Neonatal hemochromatosis is a very bad prognosis disease; liver transplantation was the only way to avoid an unfavourable evolution. Nowadays, hypothesis of an alloimmune mechanism for this disease has purposed to administrate high doses of immunoglobulins. PATIENTS AND METHODS: In this study, we report four cases of women whose previous child had neonatal hemochromatosis and who received such a treatment during the next pregnancy from 18 weeks to the term. RESULTS: This treatment allowed to lead their pregnancy to success. At birth, all four neonates were alive. Two of them presented transitory biologic symptoms of liver deficiency. All had a favourable evolution later. DISCUSSION AND CONCLUSION: Maternal treatment with high doses of immunoglobulins during pregnancy seems to improve dramatically the prognosis of neonatal hemochromatosis as it has been already reported. It could also apply to other diseases, which proceed from the same mechanism.

Twins discordant for fetal skeletal abnormalities: a natural confrontation between the two siblings.

BACKGROUND: Skeletal abnormalities encompass a heterogeneous group of disorders characterized by anomalies of cartilage as well as bone growth and development. Some are lethal and express early during fetal life, making them amenable to prenatal diagnosis. The increasing use of routine ultrasonography (US) during pregnancy permits a reliable primary evaluation of the fetal skeleton. However, when a skeletal dysplasia is suspected, it is more difficult to establish a specific diagnosis. Moreover, detailed ultrasonographic evaluation of the whole fetal skeleton may be limited in some circumstances, especially during the third trimester due to the fetal position and in the case of multiple pregnancies. METHODS: Retrospective study of twin pregnancies complicated with skeletal abnormalities. RESULTS: 6 twin pregnancies were reviewed. The prenatal diagnosis was correctly made in 66.66% (4/6) with the primary use of combined 2D and 3D-US. 3D-HCT permits to improve the simultaneous assessment of both fetuses, and is of greater value than US in 16.66% (1/6). CONCLUSION: The combined use of 2D or 3D-US with 3D-HCT permits the best imaging evaluation.

Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography.

OBJECTIVE: To evaluate the contribution of new imaging techniques in the prenatal diagnosis of skeletal dysplasia. METHODS: Between May and October 2003, a prospective study was conducted in a single referral center. Three-dimensional ultrasound (3D-US) and three-dimensional helical computer tomography (3D-HCT) were performed after two-dimensional ultrasound (2D-US) in six cases of skeletal dysplasia. Diagnostic accuracy and detailed findings with each of the three techniques were compared with postnatal radiological findings. RESULTS: There were three cases of achondroplasia, two cases of osteogenesis imperfecta type II and one case of chondrodysplasia punctata. Termination of pregnancy was performed in five cases and one fetus with osteogenesis imperfecta type II was delivered at term by Cesarean section. 2D-US made the correct diagnosis in four cases. 3D-US and 3D-HCT achieved an accurate diagnosis in all six cases. 3D-HCT and 3D-US identified significantly more abnormalities than did 2D-US (3D-HCT: 94.3% (33/35); 3D-US: 77.1% (27/35); 2D-US: 51.4% (18/35); P < 0.01). The diagnosis was made between 27 and 36 weeks' gestation in all cases. The advantage of 3D-HCT over 3D-US was the possibility of imaging the entire fetus. CONCLUSION: 3D-US and 3D-HCT seem to be useful complementary methods to 2D-US, and may improve accuracy of the prenatal diagnosis of skeletal disorders. These new imaging technologies may have a role in the prenatal multidisciplinary approach to the diagnosis of skeletal dysplasias.

Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia.

Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum.

Subependymal pseudocysts in the fetal brain: prenatal diagnosis of two cases and review of the literature.

Subependymal pseudocysts are cerebral cysts found in 5% of all neonates. When they are isolated and typical, they result from persistence of the germinal matrix, have a good prognosis and regress spontaneously within a few months. However, associated anomalies are frequent and in such cases the prognosis is poor. They can be of infectious, vascular, metabolic or chromosomal origin. Subependymal pseudocysts have rarely been described in the antenatal period. We report the prenatal diagnosis of two cases of isolated pseudocysts at 32 and 23 weeks. Both ultrasonography and magnetic resonance imaging assisted in the diagnosis and there was normal postnatal outcome in both cases.

A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull.

We report a case of a 24-week-old fetus with cerebral anomalies suggestive of lobar holoprosencephaly including an unusual course of the anterior cerebral artery on Doppler examination. This abnormal trajectory of the anterior cerebral artery in holoprosencephalic brains has been described by pathologists, neurosurgeons and radiologists but our case indicates that this finding may be a useful adjunct to confirm such a difficult diagnosis prenatally.

Ethnic differences in lung function in Israeli children.

BACKGROUND: The population of Israel consists of immigrants from many different countries. It is not known whether a single nomogram can be used for spirometric values of children of different ethnic descent. METHODS: Spirometry was performed in 753 second or third generation Israeli children (7-14 years) of different ethnic groups. Both parents of 503 of the children were of the same ethnic background. Subjects were allocated to six ethnic groups (European, Iraqi, North African, Indian, Yemenite, and Georgian). RESULTS: Standing height contributed most to the prediction of spirometric values (forced expiratory volume in one second, forced vital capacity), whereas sitting height did not contribute further. Statistical analysis showed significant ethnic differences. The Georgians had higher spirometric values for FEV1 than all the other ethnic groups, and higher FVC values than those of the Yemenite, North African, and Indian groups. FVC was lower among the Indian than all other groups. CONCLUSION: Differences in normal spirometric values were found among second or third generation Israeli children of different ethnic origins. European, North African, Iraqi, and Yemenite children could be characterised by single equation, whereas children of Georgian and Indian descent needed different predicting equations.

Pattern of lung volumes in patients with sighing breathing.

BACKGROUND: Sighing breathing is observed in subjects suffering from anxiety with no apparent organic disease. METHODS: Lung volumes and expiratory flow rates were measured in 12 patients with a sighing pattern of breathing and in 10 normal subjects matched for age, gender, and anthropometric data. In both groups the measurements were made by spirographic and plethysmographic techniques. In normal subjects functional residual capacity (FRC) and residual volume (RV) were measured during normal breathing and again during simulated sighing breathing to exclude technical artifacts resulting from hyperventilation during measurement by the helium closed circuit method. RESULTS: Patients with a sighing pattern of breathing had a normal total lung capacity (TLC) but significantly different partitioning of lung compartments compared with normal subjects. The vital capacity (VC) was lower when measured by both spirographic and plethysmographic methods and RV was higher. The forced expiratory volume in one second (FEV1) was also lower in patients with sighing breathing. The FEV1/VC and the maximal expiratory flow rates at 50% and at 25% of the forced vital capacity (V50 and V25) were normal and similar in both groups. In normal subjects there were no differences in RV when measured during quiet or simulated sighing breathing. CONCLUSIONS: Subjects with sighing breathing have a normal TLC with a higher RV and lower VC than normal subjects. There was no obvious physiological or anatomical explanation for this pattern.

Importance of inspiratory load in the assessment of severity of airways obstruction and its correlation with CO2 retention in chronic obstructive pulmonary disease.

Different aspects of mechanical loading were analyzed in a group of 25 patients with chronic obstructive pulmonary disease (COPD) who all had severe expiratory airflow limitation but different arterial CO2 values. It was found that the maximal expiratory flow rates (V75, V50, V25, VFRC), functional residual capacity (FRC), residual volume (RV), total lung capacity (TLC), specific airways conductance (SGaw) measured during inspiration or expiration, and lung recoil pressure (PLel) were not correlated to the PaCO2. Only five parameters were significantly linked to the PaCO2; they were the peak inspiratory flow (PIF) (r = -0.57, p < 0.002), the inspiratory vital capacity (IVC) (r = -0.46, p < 0.01), the maximal voluntary ventilation (MVV) (r = -0.49, p < 0.01), the total SGaw (r = -0.40, p < 0.03), and the forced expiratory flow volume in one second (FEV1) (r = -0.36, p < 0.05). It was concluded that the airflow limitation during the inspiratory phase has an important contribution to the CO2 retention in patients with COPD, and therefore analysis of both phases of the respiratory cycle is necessary to assess the severity of airway obstruction in this disease.

[Thrombosis of the right atrium after umbilical venous catheterization. Favourable outcome after early thrombectomy]. / Thrombose de l'oreillette droite après cathétérisme veineux ombilical. Evolution favorable après thrombectomie précoce.

A case of right atrial thrombosis after venous umbilical catheterization in a 21 day-old premature newborn is reported. The initiating factors of such an accident and its clinical signs are evocated. The authors emphasize the value of a systematic ultrasonographic supervision of newborns with central catheters for a long period of time and the value of surgical thrombectomy.

[Maxillary cyst of dental origin with uncommon ocular complication]. / A propos d'un kyste maxillaire d'origine dentaire avec complication oculaire inhabituelle.

A 23-year-old woman was referred for decreased vision and central scotoma. Fundus examination disclosed unilateral acute oedematous optic neuritis. A nasolabial cyst was diagnosed, probably of dental origin, because numerous apical granuloma were noticed. The abscess did not produce any fistula which explained the absence of clinical and radiological dental sinusitis. Treatment included excision of the nasolabial cyst and systemic antibiotics. The prognosis was excellent with recovery of a normal visual acuity and normal fundus appearance. There was no evidence of any recurrent episode. The nasolabial cyst was the cause likely of the neuritis. Nevertheless, multiple sclerosis must be considered. Only long-term absence of neurological signs could prove that the maxillary lesion was directly responsible for the optic disorder.

[Role of imaging in the diagnosis of coma]. / Place de l'imagerie dans le diagnostic des comas.

Imaging has become one of the main methods to diagnose and monitor coma. CT is the technique of choice in the exploration of traumatic coma or spontaneous intracerebral haemorrhage, but MRI is better than CT to explore comas of ischaemic, infective, tumoral or toxic origin, as it provides earlier and more precise images.

[Solitary listerial abscess of the brain stem. Cure with antibiotic treatment]. / Abcès listerien solitaire du tronc cérébral. Guérison sous traitement antibiotique.

A healthy 26-year-old man, without initially presenting fever, rapidly developed a focal right pontomedullary deficit associated with an aseptic lymphocytic meningitis. The diagnosis of Listeria infection was confirmed by blood cultures. CT and MRI demonstrated an abscess extending from the superior cerebellar peduncle to the lateral portion of the medulla. Immunological controls gave no indication of deficiency. With ampicillin therapy, started on the 5th day, clinical recovery was almost complete, but a soft palate right paresis persisted as the unique sequel. Antibiotic therapy was maintained for 5 months up to normal CSF and CT. One year after the onset, MRI was also normal. The rare nature of listerial abscess in the brainstem is discussed with regard to rhombencephalitides.

Maximal expiratory flow at FRC, adjusted for absolute lung volume: specific Vmax FRC.

Maximal expiratory flow-volume curves were recorded in 85 healthy subjects, aged from 18 to 78 years. The maximal expiratory flow was measured at 75, 50 and 25% of the vital capacity (VmaxVC), at 60 and 40% of the total lung capacity (VmaxTLC), and at the functional residual capacity level (VmaxFRC). The latter was adjusted for the lung volume at which it was measured. The new parameter was named specific VmaxFRC (SVmaxFRC) and expressed in s-1. Normal values and prediction formulas based on height, weight, age and sex were established. It was found that: (1) adjustment for lung volume narrowed the interindividual variability of SVmaxFRC from 47 to 37%; (2) did not diminish the influence of age (p less than 0.001); (3) erased the influence of height and VC; (4) reduced the correlation with FEV1 (p less than 0.05), and (5) unveiled a borderline correlation with specific conductance (p less than 0.05).

Therapy with nifedipine in asthma: a randomized double-blind crossover trial.

A randomized double-blind crossover trial with nifedipine (10 mg orally four times a day for 2 weeks) was carried out in 11 asthmatic patients. The analysis of the differences between the periods of running-in, placebo and nifedipine administration showed a mild improvement in symptom scores during the nifedipine period (2.8 +/- 1.5, 2.8 +/- 1.8 and 2.1 +/- 1.6, respectively; P less than 0.05). Drug intake and peak expiratory flow rates remained unchanged. This suggests that the drug did not influence the baseline bronchial tone, but might have attenuated some superimposed exacerbations due to unavoidable exposure to cold, effort or allergens. We conclude that the benefit of orally administered nifedipine in low doses has little value in the treatment of asthma.

Nifedipine in asthma. Dose-related effect on resting bronchial tone.

In order to study the dose-related effect of nifedipine on expiratory flow rates, 15 asthmatic patients were given sublingually 10 mg and 20 mg of the drug on two different days and the FVC and FEV1 were measured during 90 minutes. Then they received 2.5 mg albuterol (Salbutamol) by inhalation, and the two parameters were measured again after 30 minutes. It was found that the drug has a dose-related effect on expiratory flow rates. Indeed, 20 mg nifedipine produced a mild (less than 10 percent) but significant improvement in FVC (p less than 0.01) and FEV1 (p less than 0.05), while the response to 10 mg was mild, not significant and manifested rather by a decrease in both parameters. In three patients, the forced expiratory flow rates markedly worsened. No correlation could be established between the effect of nifedipine and the severity of the disease. In contrast, the improvement produced by albuterol was strongly related to the degree of airway obstruction (p less than 0.001). Nifedipine in both doses did not potentiate the bronchodilatation induced by albuterol.

Familial bilateral paralysis of diaphragm. Adult onset.

At age 50 two homozygote twin brothers developed bilateral paralysis of the diaphragm. No infectious, metabolic, degenerative or proliferative disorders of the neuromuscular system and no thoracic diseases which could explain this lesion were detected during four years of follow-up. It appears thus to be an isolated lesion of genetic origin. To the best of our knowledge, no similar cases have been reported in literature.