scholarly journals Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Different clinical features in a family – A case report

2019 ◽  
Vol 72 (11-12) ◽  
pp. 375-378
Author(s):  
Svetlana Ruzicka-Kaloci ◽  
Marija Stamenkovic ◽  
Zeljko Zivanovic ◽  
Aleksandar Jovanovic ◽  
Tamara Rabi-Zikic ◽  
...  

Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common monogenic disease of small blood vessels. It commonly presents with repeated epi?sodes of brain ischemia leading to progressive subcortical vascular dementia, migraine attacks and mood disorders. Case Report. A 46-year-old male patient was admitted with clinical presentation of stroke. The neurological examination revealed mild divergent strabismus and a left homonymous hemianopia. Brain magnetic resonance imaging showed subacute infarction in the region of the posterior cerebral artery to the right, as well as similar lesions in the splenium of the corpus callosum, numerous mostly confluent and some discrete T2-weighted/fluid attenuated inversion recovery hyperintense lesions of the centrum semiovale, corona radiata, frontoparietal subcortex, capsula externa, periventricularly at the level of occipital and temporal horns of lateral chambers bilaterally, and small punctiform lesions in the region of the corpus callosum. The magnetic resonance angiography findings were normal. The patient?s brother underwent neurological examination at the age of 42 due to severe headaches, double vision, confusion, and numbness in the right arm. The magnetic resonance imaging of the endocranium showed multifocal confluent ischemic lesions predominantly in the frontal and temporal lobes, as well as focal microangiopathic changes in the gangliocapsular regions bilaterally in the brainstem and cerebellum. In agreement with the patient and his brother, genetic analyses were performed in both of them, and a mutation in exon 3 of the neurogenic locus notch homolog protein 3 gene was confirmed (c.505C > t, p.R169C). Conclusion. Although there is no causal therapy, it is very important to diagnose cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in order to implement measures to prevent cerebrovascular diseases in both patients and their family members.

Neurosurgery ◽  
2006 ◽  
Vol 58 (4) ◽  
pp. E788-E788 ◽  
Author(s):  
Lucia Benvenuti ◽  
Rolando Gagliardi ◽  
Fabio Scazzeri ◽  
Stefania Gaglianone

Abstract OBJECTIVE AND IMPORTANCE: Parenchymal perianeurysmal cysts are rare, and only seven cases have been reported. We present a case report with a 30 month follow-up on this topic. The possible etiopathogenetic mechanisms of cyst formation are discussed. CLINICAL PRESENTATION: A 54-year-old man with a 5–month history of headache and a computed tomography scan showing a giant parenchymal cyst located in the right temporal lobe with a mural enhanced nodule was admitted to our neurosurgical department with the diagnosis of cystic brain tumor. Magnetic resonance imaging followed by digital subtraction angiography identified the enhancing nodule as a large right middle cerebral artery aneurysm. INTERVENTION: Surgical treatment was performed; the aneurysm was clipped and the cyst evacuated. Postoperative digital subtraction angiography confirmed the clipping of the aneurysm at the neck. Serial magnetic resonance imaging controls showed the permanent collapse of the cyst. CONCLUSION: Parenchymal perianeurysmal cysts are rare. In the presence of parenchymal cysts neighboring main vessels, the possibility of a perianeurysmal cyst should be considered. In regard to the etiopathogenetic mechanisms responsible for the cyst development, the action of multiple coexisting factors seems to be the most applicable.


2006 ◽  
Vol 12 (1) ◽  
pp. 112-115 ◽  
Author(s):  
R A Linker ◽  
A Mohr ◽  
L Cepek ◽  
R Gold ◽  
H Prange

Hypothermia is a rare condition in multiple sclerosis (MS). We report on a patient with a longstanding secondary progressive MS and six episodes of recurring hypothermia down to 29.98C with associated hypotension, bradycardia, coagulopathy and electrolyte dysequilibrium. Magnetic resonance imaging (MRI) demonstrated severe involvement of the corpus callosum with an associated lesion in the right posterior thalamus. These findings may link hypothermia in MS with callosal and associated thalamic pathology to Shapiro’s syndrome, where agenesis of the corpus callosum and associated abnormalities are related to episodic spontaneous hypothermia. In MS, hypothermic episodes may be triggered by preceding infections, as shown in the present case.


ORL ◽  
2020 ◽  
pp. 1-5
Author(s):  
Yunpeng Zang ◽  
Antje Hähner ◽  
Simona Negoias ◽  
Theresa Lakner ◽  
Thomas Hummel

We report the case of a 49-year-old female patient who suffered from anosmia following an apparently mild head trauma when bumping into a door at her home. She reported no other accompanying symptoms after the injury that day. Olfactory function was completely lost, which was noted the day after the trauma. Gustatory function remained normal. Magnetic resonance imaging indicated lesions/bleeding in the right frontal lobe and in the area of the olfactory sulcus/bulb. The present case indicates that in case of apparently mild head trauma with anosmia, an MRI scan of the head should be performed because of suspect brain damage. This case also points to the deeper question how to gauge severity of head trauma.


2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Dilruba Sharmen Nishu ◽  
Md. Monir Uddin ◽  
Khadija Akter ◽  
Shameema Akter ◽  
Monira Sarmin ◽  
...  

Abstract Background Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The most common presentation is abdominal pain, dysmenorrhea, and abdominal mass secondary to hematocolpos. We present the first case report on Herlyn-Werner-Wunderlich syndrome from Bangladesh. Case presentation A 15-year-old Asian girl presented with lower abdominal pain of 3 months’ duration. She had had menarche 3 months earlier and had a regular menstrual cycle with cyclical abdominal pain. Abdominal examination found a tender mass on the right iliac fossa. Further evaluation with ultrasound revealed distended endometrial cavity filled with complex fluid and nonvisualization of the right kidney. Pelvic magnetic resonance imaging showed absent right kidney and two separate endometrial stripes surrounded by endometrium and a muscular layer. The right endometrial cavity and cervix were distended with blood. This magnetic resonance imaging finding is consistent with Herlyn-Werner-Wunderlich syndrome with uterine didelphyis, right-sided hematometra resulting from obstructed hemivagina, and ipsilateral agenesis of the right kidney. The vaginal septum was resected for vaginoplasty. She was discharged 5 days after surgery and came for follow-up after 7 days. Vaginal examination revealed a healthy wound with no adhesion of the vaginal wall. She also informed us that she had started regular menstruation without any pain 30 days after the operation. Conclusion An unusual presentation of regular menstruation and nonspecific abdominal pain delays the diagnosis, which can lead to complications such as endometriosis and infertility. Awareness is required; otherwise, misdiagnosis clearly can occur.


2012 ◽  
Vol 71 (2) ◽  
Author(s):  
S. O. Wajuihian

This paper forms part two of a review of the neurobiology of developmental dyslexia (DD) and here the focus is on magnetic resonance imaging (MRI)of the corpus callosum (CC) of dyslexic and non-dyslexic subjects. The CC is a bundle of nerve fibres connecting the left and the right hemisphere of the brain. Due to the role of this structure in inter-hemispheric transfer and integration between the hemispheres, the CC is significant in the search for the neurobiological basis of DD. (S Afr Optom 2012 71(1) 39-45)


2021 ◽  
Vol 8 ◽  
Author(s):  
Neeltje J. Veenema ◽  
Koen M. Santifort ◽  
Nienke W. Kuijpers ◽  
Anne Seijger ◽  
Peter R. Hut

This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf with congenital complex brain anomaly. The calf was presented with non-progressive signs (including cerebellar ataxia) since it was born, suggestive of a multifocal intracranial lesion. A congenital anomaly was suspected and after hematology, biochemistry, serology, and cerebrospinal fluid analysis, a magnetic resonance imaging study was performed. The following suspected abnormalities were the principal changes identified: severe hydrocephalus, porencephaly, suspected partial corpus callosum agenesis (CCA), and increased fluid signal between the folia of the cerebellum. Post-mortem examination predominately reflected the MRI findings. The origin for these malformations could not be identified and there was no evidence of a causative infectious agent. Corpus callosum abnormalities have been reported in bovids before and have been linked to bovine viral diarrhea virus (BVDV) infections, as have several other central nervous system anomalies in this species. In this case, BVDV was deemed an unlikely causative agent based on serology test results and lack of typical histopathological signs. The etiology of the congenital anomaly present in this bovine calf remains unknown.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A986-A987
Author(s):  
Shobha Mandal ◽  
Mary Grace Bethala ◽  
Barbara MolsKowalczewski

Abstract Background: Parathyroid carcinoma is an extremely rare endocrine malignancy with a prevalence of &It 1%. It is associated with hyperparathyroidism-jaw tumor syndrome (HJTS), multiple endocrine neoplasia (MEN) type 1 or 2A syndromes, secondary hyperparathyroidism, and chronic kidney disease. Incidence is equal in both men and women. Patients may present with symptoms of hypercalcemia, and should be further worked up with neck ultrasound, Tc-99m sestamibi imaging, single-photon emission computed tomography, magnetic resonance imaging, positron emission tomography combined with CT scan, and biopsy of the parathyroid mass. Parathyroid carcinoma can be treated surgically with complete resection. Patients treated with En-bloc resection with microscopically negative margins remain cancer-free for at least three years to a maximum of twenty years. Case Report: A 50-year-old female treated with laparoscopic sleeve gastrectomy for morbid obesity, came for the follow-up visit. She denied any active complaint. Routine Lab work showed mild hypercalcemia, hypophosphatemia, elevated PTH, and alkaline phosphatase. Neck ultrasound showed a cystic lesion adjacent to the right thyroid lobe. Sestamibi (MIBI) parathyroid scintigraphy showed increased radiopharmaceutical uptake by the right superior parathyroid gland without any enlarged or suspicious lymph nodes. Dexa scan was positive for osteopenia. The patient underwent right superior parathyroidectomy along with en-bloc right thyroid lobectomy. Histological examination revealed anaplastic regions, giant cells with abundant cytoplasm, and polymorphous nuclei with a Ki-67 labeling index of 10% consistent with parathyroid carcinoma. Post-surgery imaging with ultrasound and magnetic resonance imaging of the neck computed tomography of the chest, and abdomen, whole-body MIBI scintigraphy was negative for residuals or metastatic disease. She was started on oral calcium carbonate and was monitored regularly with routine lab work. The most recent lab work was within normal limits. Conclusion: Most of the patients with parathyroid carcinoma present in the early stage with the symptoms of hypercalcemia. Many of them do not have symptoms of mass or tumor effects. Parathyroid cancer is a rare malignancy and can be missed, therefore all patients with hypercalcemia should be further evaluated with lab work, imaging, and biopsy to rule out parathyroid carcinoma. Early diagnosis and treatment have a better outcome.


2019 ◽  
Vol 14 (2) ◽  
pp. 253-257
Author(s):  
Youichi Yanagawa ◽  
Shunsuke Madokoro ◽  
Tamaki Matsunami ◽  
Hiroki Nagasawa ◽  
Ikuto Takeuchi ◽  
...  

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