Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies.Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders.In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.

Combined therapy with systemic corticosteroids and orbital cobalt radiotherapy has been shown to be an effective treatment of severe Graves' ophthalmopathy. The potentially serious side-effects of large doses of systemic corticosteroids prompted us to evaluate the use of retrobulbar corticosteroids instead of systemic corticosteroids. Forty-four patients with active Graves' ophthalmopathy were given orbital cobalt irradiation (total dose 2000 rads) and retrobulbar methylprednisolone acetate (14 bilateral injections at 20-30 d intervals). The degree of ocular involvement and responses to treatment were evaluated by numerical scoring (ophthalmopathy index, OI) and clinical assessment. Excellent or good responses were observed in 11 out of 44 patients (25%), 24 (55%) showed slight responses, and no change was found in 9 patients (20%). The initial OI mean score was 5.9; the final score was 3.2, with a change of -2.7 (P less than 0.001). Regression or partial improvement was observed in most cases (35/44, 80%) with soft tissue changes, and in all 9 cases with sight loss due to optic neuropathy. Proptosis, corneal lesions and extra-ocular muscle involvement were less responsive, since regression or partial improvement was observed in 39% (12/31), 50% (8/16) and 31% (13/42), respectively. No major side-effects were observed. The effects of this type of therapy and those obtained by combined therapy with systemic corticosteroids and orbital radiotherapy were compared in two groups of 30 patients each, randomly assigned to either treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

The aim of this paper was to address some of the unanswered questions regarding management of facial nerve paralysis in temporal bone fractures (TBF), such as the outcomes after late facial nerve decompression surgery. The study design was a retrospective review of a consecutive clinical series. Thirteen patients who underwent late decompression surgery for facial nerve paralysis due to TBF involving the perigeniculate ganglion region were analyzed. Patients were operated on 27-90 days after trauma. A transmastoid extralabyrinthine approach was used in all cases. Facial nerve-sheath slitting was performed routinely. Normal or subnormal facial nerve function (HB 1 or HB 2) was achieved in 7/9 cases (78%) evaluated at > or = 1 year after surgery. Good functional results were also obtained in two patients operated on 3 months after trauma. Bases on the outcomes observed in the present series, in patients unable to be operated on early, presenting 1 to 3 months with >95% denervation on EnoG, facial nerve decompression may have a beneficial effect.

BackgroundAcute respiratory failure due to thyroid compression or invasion of the tracheal lumen is a surgical emergency requiring urgent management. The aim of this paper is to describe a series of six patients treated successfully in the emergency setting with total thyroidectomy due to ingravescent dyspnoea and asphyxia, as well as review related data reported in literature.MethodsDuring 2005-2010, of 919 patients treated by total thyroidectomy at our Academic Hospital, 6 (0.7%; 4 females and 2 men, mean age: 68.7 years, range 42-81 years) were treated in emergency. All the emergency operations were performed for life-threatening respiratory distress. The clinical picture at admission, clinical features, type of surgery, outcomes and complications are described. Mean duration of surgery was 146 minutes (range: 53-260).ResultsIn 3/6 (50%) a manubriotomy was necessary due to the extension of the mass into the upper mediastinum. In all cases total thyroidectomy was performed. In one case (16.7%) a parathyroid gland transplantation and in another one (16.7%) a tracheotomy was necessary due to a condition of tracheomalacia. Mean post-operative hospital stay was 6.5 days (range: 2-10 days). Histology revealed malignancy in 4/6 cases (66.7%), showing 3 primitive, and 1 secondary tumors. Morbidity consisted of 1 transient recurrent laryngeal palsy, 3 transient postoperative hypoparathyroidism, and 4 pleural effusions, treated by medical therapy in 3 and by drains in one. There was no mortality.ConclusionOn the basis of our experience and of literature review, we strongly advocate elective surgery for patients with thyroid disease at the first signs of tracheal compression. When an acute airway distress appears, an emergency life-threatening total thyroidectomy is recommended in a high-volume centre.

Objective To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA). (8.5% (95% CI, Methods

Objective: Rhomboencephalosynapsis (RES) is a rare, but increasingly recognized malformation consisting of fused cerebellar hemispheres, dentate nuclei and superior cerebellar peduncles and absent vermis. RES is associated with significant neurocognitive delay, seizures, and movement disorder. Associated central nervous system abnormalities are common. We report five fetal cases and discuss the fetal ultrasound and magnetic resonance imaging (MR) findings. All cases presented with hydrocephalus. Methods: Institutional ethics approval was obtained. Prenatal ultrasound is available in five cases, prenatal MR imaging in two, postnatal ultrasound and MR in two and autopsy confirmation in three. Images were evaluated for presence and degree of vermian fusion, presence of primary fissure and fastigial point and associated central nervous system anomalies. Results: Fetal and postnatal MR readily identified the classic features of hypoplastic single lobed cerebellum with transverse folia and associated intracranial malformations, specifically within the realm of holoprosencephaly. Both also identified diamond shaped 4th ventricle on axial views, rounded 'fastigial point' and lack of primary fissure. Postnatal MR more readily identified fusion of the dentate nuclei. Fetal and postnatal ultrasound documented the transverse folia and narrow transverse diameter of the cerebellum. Conclusion: Rhomboencephalosynapsis is a rare lesion that is best imaged prenatally with fetal MR. Suspicious ultrasound features are cerebellar hypoplasia and absence of the vermis. The presence of these ultrasound findings should raise the clinical suspicion of RES, and be an indication for fetal MR if available. OP03.20Reference values of frontal lobar measurements in early pregnancy by transvaginal scan Catholic University of the Sacred Heart, ItalyObjective: Fetuses with Down syndrome have long been recognized to have brachycephaly resulting from a foreshortened occipitofrontal diameter. Moreover, the measurement of cephalic index during pregnancy has given disappointing results because the shortening of occipitofrontal diameter is the result of reduced frontal lobe growth. The purpose of this study was to assess, by transvaginal scan in early pregnancy, frontal lobe measurements and to obtain reference data in normal euploid fetuses. Methods: This study was prospectively carried out in consecutive 1257 singleton pregnant patients submitted to genetic amniocentesis with the result of a normal karyotype. Ultrasound scans were performed on real time linear array ultrasonic equipment (Toshiba Sonolayer SSA 270A and SSA 340A, with a 5.0 to 7.0 MHz endovaginal convex probe). Frontal lobe measurements (frontal lobe length -FLL -, frontal lobe-cavum septum pellucidum -FL-CSP -and frontothalamic distance -FTD -) were obtained in 745 fetuses between 13 to 16 gestational weeks. Results: Frontal lobe measurements were obtained in 354 (57.0%), 243 (73.9%), 162 (83.1%) and 86 (76.8%) fetuses at 13, 14, 15 and 16 gestational weeks, respectively. The measure...

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