Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal. Differential diagnosis included cavernous hemangioma, capillary telangiectasia, and cerebellar hemorrhage. Subsequent fetal cerebral MRI showed diffuse bilateral cerebellar modifications, reduced cranio-caudal diameter of the vermis, and pathological elongation and thickening of the superior cerebellar peduncles indicative of the molar tooth sign. Amniocentesis and whole exome sequencing identified two heterozygous truncating variants in the LAMA1 gene: c.3099G > A (p.Trp1033Ter) and c.3699T > A (p.Tyr1233Ter), confirming PBS.) Following the diagnosis, the pregnancy was terminated at 23 weeks and 5 days. Post-mortem examination supported the MRI findings consistent with PBS. This case highlights the importance of integrating ultrasound, MRI, and genetic analysis for accurate prenatal diagnosis and emphasizes the molecular diversity associated with PBS, including the presence of molar tooth sign mimics and a novel c.3699T > A variant.

Stroke due to Percheron Artery Occlusion: Description of a Consecutive Case Series from Southern Portugal.

The artery of Percheron (AOP) is an abnormal variant of the arterial supply of the thalamus. Stroke caused by AOP occlusion is seldom reported. AOP leads to bilateral thalamic and rostral midbrain infarct presenting with unspecific manifestations. There are few descriptions of case series of stroke caused by AOP. We sought to review the clinicoradiological characteristics of AOP infarction from Algarve, Southern Portugal. Eight consecutive cases were retrospectively identified by searching the electronic clinical charts, as well as the stroke Unit database (2015-2020). Sociodemographic (age and gender) and clinicoradiological characteristics (etiological classification, admission severity, manifestations, and short- and long-term prognoses) were retrieved. The corresponding frequency of AOP infarction was 0.17% (95% confidence interval: 0.05-0.28). The mean age was 67.1 (range: 60-80) years. The range of stroke severity evaluated assessed by the National Institute of Health Stroke Scale ranged from 5 to 23 (median = 7.5). None of the patients receive acute ischemic stroke reperfusion treatment. AOP patterns were isolated bilateral paramedian thalamic ( n = 2), bilateral paramedian and anterior thalamic ( n = 2), and bilateral paramedian thalamic with rostral midbrain ( n = 4). Two patients (20%) died on the short term (30 days). At hospital discharge, six patients had functional disability of ≤2 on the modified Rankin scale. In the follow-up at 6 months, half ( n = 3) of the survivors had persistent hypersomnia and two had vascular dementia. Stroke from AOP presents with variable clinical and radiological presentations and patients do not receive alteplase. The short-term survivor and the long-term functional independency can be compromised after AOS infarct.

Magnetic Resonance Imaging Assessment of Radial Scars/complex Sclerosing Lesions of the Breast.

PURPOSE: To describe the magnetic resonance characteristics of radial scars/complex sclerosing lesions (RS/CSL) of the breast using the current BI-RADS lexicon. To investigate the value of diffusion weighted imaging to predict malignancy. PATIENTS AND METHODS: From 2010 to 2017, we have found 25 women with architectural distortion at mammography who underwent surgical resection with a final hystopathologic report of RS/CSL. For the description of MRI findings, we adhered to BI-RADS classification (5th edition). RESULTS: The final pathological diagnosis was: "pure" RS/CSL in 7 cases (28%), RS/CSL with associated high risk lesions in 12 (48%) and 6 cases (24%) were associated with malignancy. Magnetic resonance findings: four of 25 negative or focus. Five of 25 mass enhancement: irregular, non circumscribed spiculated mass with heterogeneous or rim enhancement and most with type II curves. Sixteen of 25 non mass enhancement: focal or linear distribution and heterogeneous internal enhancement most with type I curves. Six of 25 had cancer associated with the complex sclerosing lesion. All six showed non-mass enhancement. Two cases with invasive breast carcinoma had ADC values under 1.15 x10-3 mm/s while most of the rest had the values above. CONCLUSION: Most RS/CSL showed enhancement at MR. The predominant pattern was a non-mass, focal, heterogeneous internal enhancement with type 1 curves. All cases with associated cancer showed non mass enhancement. Invasive breast cancers had ADC values < 1.15 10-3 s/mm2.

Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features.

Aim: We evaluated the diagnostic accuracy of ultrasound, postmortem and genetic studies in classifying skeletal dysplasias in the first vs second trimester of pregnancy. Methods: We retrospectively gathered data from a 15 year period of all the prenatal ultrasounds, autopsies, and available genetic studies on fetuses with skeletal dysplasias from our institution. Results: Five (23%) and 17 (77%) fetuses were diagnosed during the first and second trimester of pregnancy respectively. Only partial characterization was possible with ultrasound in the first trimester. Complete characterization was established in five cases (30%) in the second trimester with ultrasound alone. Pathology provided an additional diagnostic yield of 40% and 47% and genetics an additional 40% and 11% in the first and second trimesters respectively. Conclusion: Ultrasound is an effective screening but not a diagnostic tool. Complete characterizations of dysplasia increased from 22% by ultrasound alone to 86% with pathology and genetics.

Ultrasound Findings of Breast Adenomas.

OBJECTIVES: Breast adenomas are rare benign tumors. The aim of this study was to describe the ultrasound findings of breast adenomas, including less common worrisome features that can mimic malignancy. METHODS: From November 2014 to November 2019, we performed 1605 core needle biopsies guided by ultrasound in our department. In all, 229 corresponded to fibroadenomas and 12 to breast adenomas. RESULTS: Breast adenomas represented 0.75% of all core needle biopsies; 50% (6 of 12) were tubular adenomas; 17% (2 of 12) were ductal adenomas; and 33% (4 of 12) were lactating adenomas. Tubular and lactating adenomas occurred in young women and ductal adenomas in postmenopausal women. Lactating adenomas occurred in pregnant or breastfeeding women and were larger than the other adenomas. Ultrasound showed a mass with an oval shape, a parallel orientation, circumscribed margins, and hypoechoic and homogeneous patterns in most cases. However, up to one-third of them presented with suspicious findings. CONCLUSIONS: Breast adenomas are rare benign entities with no specific clinical and radiologic features. Sometimes, they appear as suspicious tumors on radiologic modalities, requiring a histopathologic assessment to rule out malignancy. Radiologists need to be familiar with this entity to determine concordance between imaging and the final pathologic analysis.

Impacto da terapia de suporte nas alterações otológicas em pacientes com desordem temporomandibular / Impact of supportive therapy for otological changes in patients with temporomandibular joint disorders

JUSTIFICATIVA E OBJETIVOS: As queixas de sintomas otológicos podem estar associadas a quadros de disfunção temporomandibular (DTM). A placa miorrelaxante é uma alternativa de tratamento para a DTM, pois oferece oclusão ideal para o paciente, atuando nos sintomas de dor. Considerando as características conservadoras e reversíveis da terapia de suporte com placa miorrelaxante, o objetivo deste estudo foi avaliar seu impacto na frequência de alterações otológicas em pacientes com DTM. MÉTODO: Realizou-se estudo de intervenção em 35 pacientes com sintomas otológicos associados à DTM. Foram considerados portadores de DTM aqueles que apresentassem pelo menos três sinais e três sintomas da morbidade, sendo um deles otalgia, zumbido, sensação de hipoacusia, sensação de plenitude auricular ou tontura. Os pacientes foram submetidos a exame clínico, orientações e confecção de placa miorrelaxante maxilar em resina acrílica termoplastificável. Ajustes da placa e avaliação dos sintomas foram realizados quinzenalmente. Utilizou-se o teste Exato de Fisher para análise estatística da diferença entre a prevalência de sinais e sintomas antes (AN) e após (AP) a terapia, com nível de significância de 5% (p < 0,05). RESULTADOS: Dezenove pacientes concluíram o tratamento. Observou-se redução na prevalência de sinais e sintomas otológicos: zumbido (AN = 14; AP = 6; p = 0,009), otalgia (AN = 13; AP = 4; p = 0,003), sensação de plenitude auricular (AN = 12; AP = 4; p = 0,006), tontura (AN = 11; AP = 4; p = 0,009) e de hipoacusia (AN = 10; AP = 2; p = 0,001). CONCLUSÃO: A placa miorrelaxante é uma terapia conservadora e reversível que mostrou ser capaz de melhorar os sintomas otológicos associados à DTM.

BACKGROUND AND OBJECTIVES: Otological symptoms complaints may be associated to temporomandibular joint disorders (TMJD). Occlusal splint is an alternative to treat TMJD because it provides ideal occlusion to patients, acting on painful symptoms. Considering the conservative and reversible characteristics of supportive therapy with occlusal splints, this study aimed at evaluating its impact on the frequency of otological changes in TMJD patients. METHOD: An intervention study was carried out with 35 patients with TMJD-associated otological symptoms. TMJD patients were considered those with at least three signs and three symptoms of morbidity, being one of them earache, tinnitus, sensation of hypoacusis, ear fullness or dizziness. Patients were submitted to clinical evaluation, orientations and fabrication of maxillary occlusal splint in thermoplastic acrylic resin. Splint adjustments and symptoms evaluation were performed fortnightly. Fisher Exact test was used for statistical analysis of the prevalence of signs and symptoms before (BE) and after (AF) therapy with significance level of 5% (p < 0.05). RESULTS: Nineteen patients have finished the treatment. There has been decrease in the prevalence of otological signs and symptoms: tinnitus (BE = 14; AF = 6; p = 0.009), earache (BE = 13; AF = 4; p = 0.003), ear fullness (BE =12; AF = 4; p = 0.006), dizziness (BE = 11; AF = 4; p = 0.009) and hypoacusis (BE = 10; AF = 2; p = 0.001). CONCLUSION: Occlusal splint is a conservative and reversible therapy able to improve TMJD-related otological symptoms.

Manifestações otológicas da Aids / AIDS otologic manifestations

A maioria dos pacientes com Aids apresenta manifestações em região de cabeça e pescoço, que podem inclusive representar sinais iniciais da infecção pelo HIV. O presente artigo descreve as principais manifestações otológicas encontradas nessa população, com seu quadro clínico e propostas de abordagem diagnóstica e terapêutica