scholarly journals Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings

2000 ◽  
Vol 58 (3B) ◽  
pp. 897-900 ◽  
Author(s):  
ISAC BRUCK ◽  
SÉRGIO A. ANTONIUK ◽  
ARNOLFO DE CARVALHO NETO ◽  
ADRIANE SPESSATTO

We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.

2021 ◽  
Author(s):  
Alejandro Augusto Ortega Rodriguez ◽  
José Luís Caro Cardera ◽  
Jordi de Manuel-Rimbau Muñoz

Abstract Intrasellar arachnoid cysts are uncommon radiological findings, generally incidental and clinically silent. We present the case of 70 year-old female who was treated of meningitis due to cerebrospinal fluid nasal fistulae. She was diagnosed of intrasellar arachnoid cyst and managed conservatively because no neurologic, hormonal, symptomatic either CSF fistulae appeared during follow-up. The origin of intrasellar arachnoid cysts is unclear; although an incomplete diaphragma sellae through basal arachnoid membrane herniates may be a plausible theory. Conservative treatment is the usual option, but if hormonal, visual or intracranial hypertension symptoms appeared, surgery may be the best therapy. This entity should be in the differential diagnosis of cystic sellar lesions with other benign cysts and tumors as craniopharyngioma.


Cancers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 3558
Author(s):  
Shinji Miwa ◽  
Norio Yamamoto ◽  
Katsuhiro Hayashi ◽  
Akihiko Takeuchi ◽  
Kentaro Igarashi ◽  
...  

Background: It is challenging to differentiate between enchondromas and atypical cartilaginous tumors (ACTs)/chondrosarcomas. In this study, correlations between radiological findings and final diagnosis were investigated in patients with central cartilaginous tumors. Methods: To evaluate the diagnostic usefulness of radiological findings, correlations between various radiological findings and final diagnoses were investigated in a cohort of 81 patients. Furthermore, a new radiological scoring system was developed by combining radiological findings. Results: Periosteal reaction on X-ray (p = 0.025), endosteal scalloping (p = 0.010) and cortical defect (p = 0.002) on CT, extraskeletal mass (p < 0.001), multilobular lesion (p < 0.001), abnormal signal in adjacent tissue (p = 0.004) on MRI, and increased uptake in bone scan (p = 0.002) and thallium scan (p = 0.027) was significantly correlated with final diagnoses. Based on the correlations between each radiological finding and postoperative histological diagnosis, a radiological scoring system combining these findings was developed. In another cohort of 17 patients, the sensitivity, specificity, and accuracy of the radiological score rates for differentiation between enchondromas and ACTs/chondrosarcomas were 88%, 89%, and 88%, respectively (p = 0.003). Conclusion: Radiological assessment with combined radiological findings is recommended to differentiate between enchondromas and ACT/chondrosarcomas.


2019 ◽  
pp. 137-140
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Supranuclear ophthalmoplegia results from an interruption of the saccadic, pursuit, optokinetic, or vergence inputs to the ocular motor nuclei. In this chapter, we begin by reviewing potential causes for difficulty reading. We next review the neuro-ophthalmic and neurologic features of progressive supranuclear palsy, which can include a vertical supranuclear ophthalmoplegia, convergence insufficiency, square-wave jerks, upper-eyelid retraction, reduced blink rate, apraxia of eyelid opening, and blepharospasm. We then discuss the differential diagnosis of progressive supranuclear palsy and point out clinical features that help to differentiate these conditions. Lastly, we present a practical approach to the management of the visual symptoms commonly caused by progressive supranuclear palsy.


1986 ◽  
Vol 100 (8) ◽  
pp. 893-896 ◽  
Author(s):  
Jørgen Hedegaard Jensen ◽  
Hans Dommerby

AbstractRecords of septoplasties performed during the last five years were reviewed with the aim of evaluating the results of routine pre-operative radiological examination of the sinuses. A positive correlation was found between the information of sinusitis within the last two years and the radiological finding of complete density or fluid. The roentgenograms showed normal conditions in 73 per cent of the cases and various degrees of pathology in 27 per cent; no case showed signs of malignancy. Puncture and irrigation or sinoscopy had been performed in 52 per cent of the cases with pathological X-rays. Following this treatment, surgery was postponed in 12 patients, and in nine patients a drainage tube was placed in the maxillary sinus per-operatively. Complications developed post-operatively in five of these nine patients and it is concluded that septoplasty should have been postponed. We find that it is important to identify the four per cent (12+9) of patients in whom the radiological findings are so pronounced that operation ought to be postponed.


1996 ◽  
Vol 37 (3P2) ◽  
pp. 489-495 ◽  
Author(s):  
C. Lundstedt ◽  
R. Nyman ◽  
J. Brismar ◽  
C. Hugosson ◽  
I. Kagevi

Purpose: To describe the radiological findings of tuberculosis (TB) of the abdomen as reflected at our hospital. Material and Methods: The radiological files of 503 patients (referred to our institution mainly because of a clinical suspicion of malignancy, and found to have cultureor biopsy-proven TB) were reviewed in order to analyze the spectrum of the TB manifestations in this group of patients. Results: Abdominal manifestations were found in 112 patients, in 1/3 abdominal disease was the only evidence of TB. More than half of the patients also had chest TB. The most common abdominal TB manifestations were peritonitis and lymph node enlargement, each occurring in about 1/3 of the patients. Also 1/3 had genitourinary TB manifestations. About 1/5 had TB of the liver, spleen or pancreas or in the gastrointestinal tract, respectively. Multiple organ involvement was common. Conclusion: The need to consider TB in the differential diagnosis in patients with obscure abdominal symptoms, especially with multiple organ involvement, is stressed.


2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Kanterpersad Ramcharan ◽  
Amrit Ramesar ◽  
Moshanti Ramdath ◽  
Joel Teelucksingh ◽  
Maria Gosein

A 29-year-old male petrol station pump attendant was admitted with ataxia and clinical evidence of a sensorimotor polyneuropathy which developed over the preceding 3 months. He had cognitive dysfunction, hearing loss, and cerebellar clinical abnormalities that came on slowly over the three years. He had a fifteen-year history of sniffing mostly glue, occasionally paint thinners, and, in the recent two years, gasoline. Magnetic resonance brain imaging showed abnormalities of the cerebral cortex, cerebral white matter, corpus callosum, hippocampus, brainstem and cerebellar atrophy, hypointensities of basal ganglia, red nuclei, and substantia nigra as previously described in toluene sniffing. Abstinence for six months led to partial clinical improvement. Clinicians need to be aware of this preventable entity which has peculiar radiological findings which are being increasingly accepted as typical.


1997 ◽  
Vol 37 (24) ◽  
pp. 3639-3645 ◽  
Author(s):  
Adrian G. Lasker ◽  
David S. Zee

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Meltem Ceyhan ◽  
Mehmet Nural ◽  
Tülin Oztas ◽  
İlkay Bayrak ◽  
Riza Rizalar

AbstractParaurethral or Skene’s duct cyst is a rare cause of masses located in the inter-labial genitor-urinary region and their etiology is not fully known. These congenital cysts may be diagnosed easily by inspection in the initial physical examination of the new-borne. Radiological evaluation is helpful for differential diagnosis and in determining the proximal extension of the cystic pathology. Treatment alternatives are needle aspiration and non-surgical follow-ups leading to a spontaneous regression and surgery. In this report the radiological findings of a female newborn diagnosed with paraurethral cyst in US and MR examinations have been discussed.


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