The relevance of MRI blood-sensitive sequences in the diagnostic assessment of late-onset epilepsy.

OBJECTIVE: Sporadic cerebral amyloid angiopathy (CAA) is a degenerative brain small vessel disease of ageing resulting from progressive amyloid deposition in small arteries and arterioles of the cortex and leptomeninges. CAA may be diagnosed by the mean of Boston criteria, particularly with the use of the blood-sensitive T2* MRI sequences (GRE and SWI). Epileptic seizures have rarely been reported in CAA. PATIENTS AND METHODS: We describe two patients with late-onset unprovoked seizures due to CAA. A short literature review on this topic is presented. RESULTS: In our two patients with late-onset unprovoked seizures as the first manifestation of CAA, only GRE and SWI sequences lead to a correct diagnosis. In literature, only 15 patients with CAA presenting with seizures have been reported. In these subjects, data on seizures semiology and prognosis are scarce. CONCLUSIONS: Our report highlights the importance to perform blood-sensitive sequences in all subjects with LOE of otherwise unknown etiology, not to miss a diagnosis of CAA.

Novel COL4A2 mutation causing familial malformations of cortical development.

OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and areas of subcortical heterotopia. The second patient is a 40-year-old man, her son. He was born post-term with neonatal distress and psychomotor developmental delay with congenital left leg paresis and strabismus, as well as childhood-onset focal motor seizures. Brain MRI showed a right nucleus-capsular porencephalic cavitation with enlargement of the homolateral ventricle and a focal right occipital cortico-subcortical encephalomalacia. A small heterotopic band was also present in the frontal left subcortical region. RESULTS: We tested both patients with a NGS panel for genetic epilepsies, which evidenced a missense mutation in COL4A2 gene (c.2972G>A, causing the aminoacidic substitution Gly991Glu). CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.

Möbius' syndrome: features and etiology.

PURPOSE: To review the clinical features and possible aetiology of all cases of Möbius' syndrome presented at the Royal Alexandra Hospital for Children in Sydney, Australia, from 1963 through 1995. METHODS: All charts of patients suffering from Möbius' syndrome were reviewed, and each patient was thoroughly assessed by a geneticist and a pediatric ophthalmologist. RESULTS: Patterns of systemic and ocular clinical features became evident. Of 23 patients in the series, 10 (43%) had a history significant events in utero. CONCLUSIONS: All patients suffering from Möbius' syndrome require thorough assessment by a multidisciplinary team including a geneticist or pediatrician and a pediatric ophthalmologist. Significant vascular events of pregnancy may explain some cases of fetal vascular disruption to the brainstem.

Outcomes of cytomegalovirus retinitis following the use of ganciclovir implants.

PURPOSE: To determine the results and complications from the use of ganciclovir implants to treat patients with HIV infection and cytomegalovirus (CMV) retinitis. METHODS: The present study was a retrospective review of 87 consecutive ganciclovir implant surgeries performed in 60 patients over a 3 year period. RESULTS: Based on the results of the present study, ganciclovir implants are an efficacious therapy for CMV retinitis but are associated with significant postoperative complications, including retinal detachment (12.0%), vitreous haemorrhage (7.2%) and cataract formation (6.0%). In this series, all implanted eyes responded to treatment and the mean time to progression was 252 days. Only a small number of patients developed second eye involvement (n = 9) or clinically significant CMV infection of other organ systems (n = 5). CONCLUSIONS: This small retrospective study provides additional data confirming the effectiveness of ganciclovir implants and the complications from their use.

[Significance of the circumferential involvement of the superior horn tip of the thyroid cartilage in pharyngo-laryngeal cancer]. / Significato dell'interessamento circonferenziale dell'apice del corno superiore della cartilagine tiroidea nel cancro faringo-laringeo.

UNLABELLED: The term "laryngopharyngeal carcinoma" indicates an advanced tumor involving both the supraglottic larynx and the pharynx in which the lesion origin may be difficult to assess. In 1981, Larsson et al. reported on the CT signs useful to distinguish the laryngeal/hypopharyngeal origin of advanced laryngopharyngeal carcinoma. We describe a new CT sign which may serve this purpose, namely the involvement of the thyroid cartilage superior horn tip. The thyroid cartilage superior horn, in fact, is involved early in the lesions originating in the pyriform sinus because of its close anatomic relationship with the posterolateral wall of the hypopharynx. MATERIALS AND METHODS. To assess the significance and specificity of this sign, we examined 15 patients with advanced laryngopharyngeal carcinoma with clinical, endoscopic and surgical evidence suggestive of tumors originating in the pyriform sinus. All CT examinations were performed with contiguous 4 mm slices before and after i.v. administration of iodinated contrast agents. Eighteen patients with surgically confirmed advanced supraglottic carcinoma were also examined. RESULTS: The thyroid cartilage superior horn tip was involved only in 3/18 supraglottic carcinoma patients; transcommissural infiltration of the larynx, involving both pyriform sinuses, was found in 2 of these cases and extensive invasion of the whole thyroid cartilage and of the cricoid ring in 1 case. CONCLUSIONS: The thyroid cartilage superior horn tip is a reliable sign of the pyriform sinus origin of advanced laryngopharyngeal cancer which is both sensitive (100%) and specific (83%). Moreover, this sign could play a major role because it represents, in most cases, the only and earliest sign of cartilage involvement. Finally, the encasement of the thyroid cartilage superior horn tip by abnormal tissue indicates tumor spread beyond the posterior pharyngeal wall. Therefore, these data can be very important for its early detection and useful for subsequent surgical planning.

Evaluation of the mechanisms underlying the kainate-induced impairment of [3H]dopamine release in the rat striatum.

Kainic acid caused a marked decrease of the electrically evoked release of [3H]dopamine from rat striatal slices 4 days after its injection (10 nmol/microliters) into the corpus striatum. This damage was prevented by the non-N-methyl-D-aspartate (non-NMDA) receptor antagonist 6,7-dinitroquinoxaline-2,3-dione (DNQX) when co-injected with kainic acid into the striatum. Prior systemic administration of the NMDA selective antagonists (cis-4-phosphonomethyl-2-piperidine carboxylic acid (CGS 19755), dizocilpine (MK-801) and ketamine did not alter the kainate effect. Previous destruction of the cortico-striatal pathway abolished the kainate-induced decrease of [3H]dopamine release. When injected into the striatum, domoic acid or alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) mimicked kainic acid and damaged the dopaminergic nigro-striatal afferents. The [3H]dopamine release evoked by electrical stimulation of slices of frontal cortex was unaffected following local injections of kainic acid. Taken together, the results indicate that AMPA/kainate receptors play a key role in the impairment of [3H]dopamine release caused by kainate in the striatum. However, the kainic acid effect is probably indirect since it appears to require the availability of endogenous glutamate originating from cortico-striatal afferents.

The Koch endocapsular punch. A report on its use in 96 consecutive cases.

The technique of endocapsular cataract extraction and intraocular lens implantation surgery provides optimal surgical conditions and more reliable intraocular lens positioning in the capsular bag. Several capsulectomy techniques are in use to remove anterior capsule from the central zone. The Koch endocapsular punch provides a new technique for creating a continuous anterior capsulectomy. In this study the Koch punch was used in 96 eyes consecutively undergoing intended endocapsular cataract extraction and intraocular lens implantation. Ninety-five eyes had appropriate lens centration at six months. There were no cases of vitreous loss. Ninety-nine per cent of cases had visual acuity of 6/6 or better at six months. This data demonstrates the Koch endocapsular punch to be an effective and safe means for anterior capsulectomy.

[Intestinal recanalization 16 years after Hartmann's operation]. / Ricanalizzazione intestinale dopo 16 anni dall'intervento secondo Hartmann.

The authors report a case of a surgical intestinal recanalization after 16 years since a Hartmann's intervention. After some considerations on the results they obtained in similar cases, the Authors call attention on this specific clinical case. They come to the conclusion that a successful surgical recanalization--although the difficult availability of the remaining rectal stump--is possible even if a long period has passed since a Hartmann's intervention was performed. In fact the rectal stump and the sphincter apparatus, even if excluded from the fecal transit for a long while, retain largely their specific functional activities and show a marked ability for an effective sensitive-motor restoration.

Dopamine release and dopaminergic inhibition of acetylcholine release in rat striatal slices after nigro-striatal hemitransection and parenteral ganglioside administration.

Hemitransection of the nigro-striatal bundle in adult rats reduced [3H]dopamine ([3H]DA) uptake into striatal slices from the lesioned side to about 20% of that in the contralateral side 5 days after surgery. Spontaneous recovery of [3H]DA uptake was observed at days 8 and 15 post-lesion (42 and 67% of the unoperated side, respectively). After a short treatment (3 days) with the GM1 ganglioside inner ester (AGF2, 30 mg/kg i.p., daily, starting on day 2 after surgery) [3H]DA uptake amounted to 52% of that in the unoperated side. The electrically evoked fractional overflow of [3H]DA was increased by 500% in slices prepared from the lesioned side 5 days after injury, largely due to the reduced re-uptake by the DA axon terminals. The increase on day 5 was only about 350% in AGF2-treated animals. The DA D2 receptor antagonist, (-)-sulpiride, potentiated the stimulus-evoked overflow of [14C]acetylcholine in slices from the unoperated side prelabelled with [14C]choline. The effect of (-)-sulpiride was much reduced (by about 80%) in the lesioned striata at days 5 and 8 after surgery. Partial recovery was seen at day 15. The lesion did not modify the (-)-sulpiride effect in animals treated with AGF2 from the 2nd to the 5th day post-lesion. Thus early ganglioside administration slows the loss of endogenous dopaminergic control of acetylcholine release caused by partial hemitransection of the nigro-striatal bundle.