Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

Pertubation du développement d'une incisive permanente incluse due à un traumatisme de la dent primire

Les anomalies du développement des dents permanentes peuvent être dues à un traumatisme des dents primaires, étant donné la proximité de la racine des dents primaires avec les dents permanentes sous-jacentes. Nous décrivons le cas d'un garçon de 14 mois qui a été dirigé vers la clinique pédiatrique de l'École de médecine dentaire de l'Universidad Estadual Paulista d'Araçatuba, au Brésil, après avoir subi un grave traumatisme qui a causé l'intrusion de l'incisive centrale droite primaire. L'examen radiographique réalisé 4 ans après le traumatisme a révélé un changement morphologique évolutif dans le germe de la dent permanente. Au moment de son éruption, l'incisive centrale permanente présentait une malformation coronaire avec hypoplasie de l'émail. Nous avons conclu qu'un suivi radiographique est indiqué après un traumatisme afin de surveiller les séquelles qui peuvent survenir dans les dents permanentes, même avant leur éruption.

Transmissão congênita em cabras reinfectadas com Toxoplasma gondii

This study evaluated the potential of congenital transmission in goats experimentally infected and reinfected with Toxoplasma gondii, in three gestational stages (initial, intermediate and final). Of the 25 non-pregnant females negative for T. gondii, 20 were orally inoculated with 2.5 x 103 T. gondii ME49 oocysts. Of these, 15 pregnant females chronically infected were reinoculated, via oral, with 2.5 x 103 T. gondii VEG oocysts. Five experimental groups were formed (n=5): I, II and III (reinoculations in the initial, intermediate and final gestational stage, respectively), IV (inoculation) and V (no inoculation). Clinical and serological exams (IgG IFAT [indirect immunofluorescence antibody test]) in different days of evaluation, and bioassay and PCR were performed in all goats. In the infected goats with T. gondii a peak of 40.2°C (IV) at nine, seroconversion (IgG≥64) at 21 and stabilization (IgG<1024) at 119 days postinoculation were observed. In the reinfected goats with T. gondii occurred an increase in IgG titers (≥1,024) at 28 (I), 7 (II) and 3 (III) days post-reinoculation. During kidding were observed only in the reinfected groups: dystocia, malformation body, stillbirth and weakness, and IgG anti-Toxoplasma were detected in all and in some offsprings of the reinfected and infected goats, respectively. Tissue parasitism by T. gondii was diagnosed by bioassay and PCR in infected and reinfected goats and in their offspring. The congenital toxoplasmosis was possible in goats chronically infected and reinfected with T. gondii. The primary infection with T. gondii did not protect the pregnant goats against congenital disease resulting from toxoplasmic reinfection, in different gestational stages (initial, intermediate and final).

Perfil de citocinas no colostro em função da idade gestacional e do crescimento fetal

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise molecular de pacientes com holoprosencefalia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A Rubber Band Around an Atlantic Croaker

A rubber band permanently girdled an Atlantic croaker, Micropogon undulatus, resulting in considerable malformation and pathological alterations of the fish. On 12 July 1973 at Graveline Bayou, Jackson County, Mississippi, Mrs. Buster Blades caught on hook and line a 175 mm standard length (102.1 g) croaker that she immediately separated from the rest of her catch as a suspected parasitized fish. Later upon closer examination, she realized that a rubber band encircled the fish, and so she brought the fish to us. The band had deformed the prepelvic isthmus, restricted movement of the pectoral fins, and permanently encircled the fish through a hole in the dorsum. Much of the elasticity was lost, but the band was entire and free to rotate through the perforation below the first dorsal fin. The tissue above the perforation, including the tissue of the dorsal fin, was complete and not severed, although several scales were regenerated. These observations, in addition to the malformed ventral area, suggest a lengthy association between band and fish.

Análise molecular de pacientes com holoprosencefalia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Periodontal Manifestations and Ambulatorial Management in a Patient With Sturge Weber Syndrome

Sturge-Weber syndrome is a nonhereditary congenital condition characterized by leptomeningeal and facial skin angiomatous malformation following the trigeminal nerve path. The intraoral angiomatosis are presented in 40% of cases and results in an important periodontal alteration, increasing the risk of bleeding during dental procedures. A 43-year-old male patient presented with port wine stain on the right side of the face, the entire hard and soft palates, the alveolar ridge, and buccal mucosa, and had an excessive accumulation of calcified masses in both supragingival and subgingival sites, with swelling and generalized inflammation throughout the gingiva and alveolar mucosa. He reported not having sanitized the area for years for fear of bleeding. Periodontal management, to remove calculus and to control gingivitis initiated in the supragingival region and gradually reaching the subgingival region to control oral microbiota, was performed with mild bleeding. The redness of the staining greatly diminished with time and the extreme halitosis of the patient also improved sharply leading to a dramatic improvement in quality of life. Ambulatory care is a feasible alternative for periodontal management that within safety limits for bleeding risks reduces the operational cost.

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

Early Diagnosis of Regional Odontodysplasia in an Infant

Regional odontodysplasia is a rare and significant dental malformation. It is a dental alteration of unknown etiology, involving both mesodermal and ectodermal dental components, which present clinical, radiographic, and histologic features. This article reports a clinical case of a 10-month-old child who was diagnosed with regional odontodysplasia in the maxilla, confirmed by radiographic examination, with a follow-up of 5 years. The clinical, radiographic, and histologic features were reviewed.

Endovascular Treatment of Tentorial Dural Arteriovenous Fistulae

Tentorial dural arteriovenous fistula (DAVF) is a rare vascular disease, which accounts for less than 4% of all cases of intracranial DAVF Because of the high risk of intracranial hemorrhage, patients with tentorial DAVF need aggressive treatment. Management approaches are still controversial, and endovascular treatment has emerged as an effective alternative. In the current work, we describe our experience with the endovascular approach in the treatment of these deep and complex DAVF of the tentorium. Eight patients were treated between January 2006 and July 2009. Six patients (75%) presented with intracranial hemorrhage related to the DAVF rupture. Four patients (50%) had subarachnoid bleeding and two had intraparenchymal hematoma. Endovascular treatment was performed via the transarterial route alone in five cases (62.5%), by the transvenous approach in two cases (25.0%) and in a combined procedure using both arterial and venous routes in one patient (12.5%). Complete obliteration of the fistula was achieved in all cases. The outcome at 15 months was favorable (modified Rankin scale 0-3) in seven (87.5%) patients. Complete cure of the lesion was confirmed in these cases. This paper reports on the effectiveness of endovascular treatment in tentorial DAVF management The choice of the venous versus the arterial approach is determined by regarding different anatomical dispositions.

Percutaneous laser ablation under ultrasound guidance for fetal hyperechogenic microcystic lung lesions with hydrops: a single center cohort and a literature review

Objective To evaluate the perinatal outcomes in hydropic fetuses with congenital microcystic pulmonary lesions that underwent percutaneous, invasive, laser therapy. Method This retrospective study reviews the literature and our experience between 2004 and 2010. Characteristics of the cystic lung lesions, liquor volume (presence of polyhydramnios or not), localization of ablation (vascular vs interstitial) and gestational age at which the procedure was performed were related to outcome (survival). Results In total, 16 fetuses with congenital lung lesions underwent invasive percutaneous laser ablation, seven performed in our center and nine published cases. Survival rate was higher in fetuses with a subsequent postnatal diagnosis of bronchopulmonary sequestration (87.5%) compared with congenital adenomatoid malformation (28.6%; p?=?0.04). The technique of vascular ablation was more successful (100%) than interstitial ablation (25.0%, p?<?0.01). Conclusion Percutaneous vascular laser ablation seems to be effective for bronchopulmonary sequestration in hydropic fetuses. Outcomes were worst following interstitial ablation for microcystic congenital adenomatoid with hydrops. (C) 2012 John Wiley & Sons, Ltd.

Lower third molar infection with purulent discharge through the external auditory meatus. Case report and review of literature

This manuscript reports an uncommon case of inferior third molar facial abscess with purulent secretion drainage through the left external acoustic meatus. The patient's left external acoustic meatus was filled with a purulent secretion observed on a CT scan. He underwent surgery to drain the facial abscess. Despite facial abscesses being routine occurrences, the literature does not contain many case reports of odontogenic facial abscesses with drainage via the external acoustic meatus. These situations occur in two possible ways: multiple fissures in the anterior wall of the cartilaginous portion of the external acoustic meatus; and congenital defects that are occasionally present in the anterior-superior aspect of the external acoustic meatus, known as the foramen of Huschke, which allow communication between the external acoustic meatus and mandibular fossa. These defects may also predispose the patient to the spread of the infection or tumour from the external auditory canal to the infratemporal fossa and vice versa. No otological sequelae were observed in this case. The authors conclude that the hypothesis of bone malformation cannot be excluded, and affirm that any facial abscess requires appropriate and immediate treatment for adequate resolution, by removing the causal factor and providing systemic support.

Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. (C) 2011 Wiley Periodicals, Inc.

Perimedullary arteriovenous fistulas in children: report on six cases

Background Perimedullary arteriovenous fistulas (PMAVFs) are rare spinal lesions and even more uncommon in children. Objective The aim of this study was to document rare occurrences of this type of arteriovenous malformation in six children treated at our institution. Methods The clinical data, radiological findings, and treatment in six cases of PMAVFs were reviewed. Six patients with PMAVFs were managed at our institution over a 5-year period. The patients (four girls and two boys), ranging in age from 6 to 15 years, presented with initially fluctuating, and eventually permanent and progressive, sudden-onset paraparesis, sensory disturbances, and sphincter dysfunction. The duration of symptoms before diagnosis ranged from 1 week to 13 years. Results All the patients underwent magnetic resonance imaging and spinal selective angiography, which demonstrated the characteristic imaging of an arteriovenous fistula. Embolization of the arteriovenous fistula was initially attempted in three patients with successful occlusion of the fistula in two. For the remaining cases, open surgery was performed, with complete occlusion of the fistula. There was no morbidity, regardless of the treatment performed. All the patients experienced neurological improvement after treatment. Conclusions No specific clinical or radiological characteristic of PMAVFs in the pediatric population was observed when our series was compared with a general series. Early diagnosis and timing of the therapeutic intervention seemed to avoid the development of irreversible ischemic myeloradiculopathy and prevented hemorrhage. Treatment for PMAVFs is difficult to standardize because these are extremely rare lesions with different angioarchitecture configurations.