scholarly journals Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia

2022 ◽  
Vol 12 ◽  
Author(s):  
Weihang Guo ◽  
Baolei Xu ◽  
Hong Sun ◽  
Jinghong Ma ◽  
ShanShan Mei ◽  
...  

Parkinsonism is a rare phenotype of cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL), all of which involve cognitive decline. Normal cognition has not been reported in previous disease studies. Here we report the case of a 60-year-old female patient with a 2-year history of progressive asymmetric parkinsonism. On examination, she showed severe parkinsonism featuring bradykinesia and axial and limb rigidity with preserved cognition. Magnetic resonance imaging (MRI) revealed white matter hyperintensity in the external capsule and periventricular region. Dopaminergic response was limited. A missense mutation c.1630C>T (p.R544C) on the NOTCH3 gene was identified on whole-exome sequencing, which confirmed the diagnosis of vascular parkinsonism secondary to CADASIL. A diagnosis of CADASIL should be considered in asymmetric parkinsonism without dementia. Characteristic MRI findings support the diagnosis.

Author(s):  
Hongzhang Zhu ◽  
Shi-Ting Feng ◽  
Xingqi Zhang ◽  
Zunfu Ke ◽  
Ruixi Zeng ◽  
...  

Background: Cutis Verticis Gyrata (CVG) is a rare skin disease caused by overgrowth of the scalp, presenting as cerebriform folds and wrinkles. CVG can be classified into two forms: primary (essential and non-essential) and secondary. The primary non-essential form is often associated with neurological and ophthalmological abnormalities, while the primary essential form occurs without associated comorbidities. Discussion: We report on a rare case of primary essential CVG with a 4-year history of normal-colored scalp skin mass in the parietal-occipital region without symptom in a 34-year-old male patient, retrospectively summarizing his pathological and Computer Tomography (CT) and magnetic resonance imaging (MRI) findings. The major clinical observations on the CT and MR sectional images include a thickened dermis and excessive growth of the scalp, forming the characteristic scalp folds. With the help of CT and MRI Three-dimensional (3D) reconstruction techniques, the characteristic skin changes could be displayed intuitively, providing more evidence for a diagnosis of CVG. At the 5-year followup, there were no obvious changes in the lesion. Conclusion: Based on our observations, we propose that not all patients with primary essential CVG need surgical intervention, and continuous clinical observation should be an appropriate therapy for those in stable condition.


2014 ◽  
Vol 27 (02) ◽  
pp. 155-158 ◽  
Author(s):  
U. Geissbühler ◽  
P. Karli ◽  
F. Forterre ◽  
E. Linon

SummaryA two-year-old female Lucerne Hound was presented with a one-week history of signs of progressive neck pain, inappetence, apathy, and an elevated rectal temperature. Findings of magnetic resonance imaging (MRI) were consistent with a foreign body abscess in the epidural space at the level of the first and second cervical vertebrae. A leftsided dorso-lateral atlantoaxial approach was performed, revealing an epidural abscess containing a grass awn. The clinical signs resolved within three days of surgery and the dog made a full recovery. This case report shows that grass awns can migrate to the atlantoaxial region in dogs and MRI findings lead to a suspicion of caudo-cranial migration within the spinal canal.


2019 ◽  
Vol 47 (8) ◽  
pp. 3681-3689 ◽  
Author(s):  
Yu Zhao ◽  
Zunyu Ke ◽  
Wenbo He ◽  
Zhiyou Cai

Objective Hypertension is a risk factor for development of white matter hyperintensities (WMHs). However, the relationship between hypertension and WMHs remains obscure. We sought to clarify this relationship using clinical data from different regions of China. Methods We analyzed the data of 333 patients with WMHs in this study. All included patients underwent conventional magnetic resonance imaging (MRI) examination. A primary diagnosis of WMHs was made according to MRI findings. The volume burden of WMHs was investigated using the Fazekas scale, which is widely used to rate the degree of WMHs. We conducted retrospective clinical analysis of the data in this study. Results Our findings showed that WMHs in patients with hypertension were associated with diabetes, cardiovascular diseases, history of cerebral infarct, and plasma glucose and triglyceride levels. Fazekas scale scores for WMHs increased with increased blood pressure values in patients with hypertension. Conclusion This analysis indicates that hypertension is an independent contributor to the prevalence and severity of WMHs.


Author(s):  
Jamsheed A. Desai ◽  
Jessica Dobson ◽  
Michel Melanson ◽  
Giovanna Pari ◽  
Albert Yongwon Jin

A 74-year-old man presented with a four week history of behavioural disturbances, upper and lower extremity numbness and impaired balance. He had been treated with metronidazole for six months for osteomyelitis of the right hallux. Examination revealed encephalopathy, and glove-and-stocking sensory loss to pinprick with reduced vibration threshold at the toe. The gait was wide based and ataxic. Nerve conduction studies showed a large fibre sensory-motor axonal polyneuropathy. Magnetic resonance imaging (MRI) revealed a solitary restricted diffusion lesion in the splenium of the corpus callosum (Figure A, B) with subtle prolongation of T2 (Figure C). The radiographic differential diagnosis included hypoglycaemia, viral encephalitis, antiepileptic drug toxicity/withdrawal and metronidazole toxicity. The combination of the imaging finding with the history of prolonged metronidazole use suggested metronidazole induced encephalopathy.


2021 ◽  
Vol 14 (10) ◽  
Author(s):  
Farokh Seilanian Toosi ◽  
Malihe Hasanzadeh ◽  
Mona Maftouh ◽  
Ahmadreza Tavassoli

Introduction: Cutaneous metastasis is an uncommon manifestation that mostly occurs in patients with previous gastrointestinal or gynecological malignancies. Local recurrence usually can be seen in surgical incisions. Dysgerminomas are rare ovarian tumors that usually have local invasions, but metastases are infrequent. Here, we described a case of dysgerminoma and cutaneous metastasis in the surgical incision. Case Presentation: The patient was a 39-year-old woman previously known as ovarian dysgerminoma, who had undergone surgery one year ago. Ultrasound examination a year after surgery showed a 35 × 33 millimeters hypoechoic solid tumor in the left ovary and another 3 masses with similar echo pattern and vascularity were found in the surgical incision. Magnetic resonance imaging (MRI) findings were compatible with cutaneous metastasis of pervious dysgerminoma. Pathologic evaluation and Immunohistochemistry (IHC) confirmed dysgerminoma's skin metastasis. She received chemotherapy due to the recurrence of malignancy. Conclusions: Local recurrence and metastases (even in the skin) should be kept in mind and the clinician must examine the surgical site skin in patients with a history of malignancy.


Author(s):  
Jaya Verlani ◽  
Sheetal Agarwal ◽  
Dhirendra P. Singh ◽  
Devki Nandan ◽  
Ruby Singh

AbstractBiotin–thiamine responsive basal ganglia disease is a neurometabolic disorder, seen in children presenting with encephalopathy, seizures, and positive family history. The disease is diagnosed based on typical magnetic resonance imaging (MRI) findings and whole exome sequencing but may be initially misdiagnosed as a mitochondrial encephalopathy or an inborn error of metabolism (IEM). We describe the case of an infant who presented with uncontrolled seizures and encephalopathy, responding to high doses of thiamine and biotin. Life-long supplementation of biotin (2–10 mg/kg/day) and thiamine (200–300 mg/day) improves the symptomatology and prevents relapse. Outcomes of the disease are heterogeneous, ranging in scope from complete remission to severe neurological sequelae.


2013 ◽  
Vol 27 (1) ◽  
pp. 4
Author(s):  
Kemal Sarsmaz ◽  
Asli Goker ◽  
Naci Kemal Kuscu

Urinary retention is uncommon in reproductive age women. The frequent causes for obstructive retention are pelvic masses and a history of surgery. We report a case of intermittent urinary retention caused by a leiomyoma. A 47-year old patient with voiding difficulties for the past four months was referred to the gynecology outpatient clinic. She had urinary retention and had been catheterized several times for bladder emptying. She had been evaluated by the urology clinic and a cystoscopy was performed with normal findings. Magnetic resonance imaging (MRI) revealed a pelvic mass at the anterior uterine wall with a diameter of 10 cm. Her physical examination confirmed the MRI findings. Total abdominal hysterectomy was performed with a complete resolution of the patient’s complaints. Women with urinary retention should be consultated with a gynecologist in order to rule out pelvic masses.


2021 ◽  
pp. 014556132110436
Author(s):  
Sanghoon Kim ◽  
Soo-Keun Kong ◽  
Jae Meen Lee ◽  
Se-Joon Oh

We report a case of cochleovestibular neurovascular compressive syndrome (CVCS)-induced drop attack treated with microvascular decompression (MVD) of the superior vestibular nerve. This report discusses the merits of surgical intervention through a review of related literature. A 58-year-old woman was referred to our clinic with a chief complaint of intermittent, strong, right-sided tinnitus lasting for a few seconds immediately prior to drop attack. Magnetic resonance imaging (MRI) showed bilateral neurovascular contact between the anterior inferior cerebellar artery (AICA) and the vestibulocochlear nerve. Based on MRI findings, history of present illness, and response to anticonvulsants, CVCS was suspected, and surgical decompression on the right side was subsequently performed. The patient became asymptomatic immediately after the surgery, and the vestibular-evoked myogenic potentials were normalized. No recurrence was reported during a 1-year follow-up period.


2021 ◽  
Vol 6 (4) ◽  
pp. 01-04
Author(s):  
Berrin Erok

Tumoral Calcinosis (TC) is an uncommon benign entitiy characterized by solitary or multiple tumorlike densely calcified periarticular masses located typically in the extensor surfaces of the large joints. TC can be primary or secondary. The primary TC is a rare hereditary familial disorder of phosphate regulation. On the other hand, secondary TC is associated with an underlying disease, most frequently, chronic renal faliure (CRF). Herein, we present a case of 40 year old male patient with CRF and 10 years history of hemodialysis, presenting with swellings around the right hip and left shoulder joints. The diagnosis of secondary TC has been made with typical computed tomography (CT) and magnetic resonance imaging (MRI) findings. Secondary TC is an uncommon condition particularly occuring in association with CRF. Typical radiologic findings and clinical history are leading in the diagnosis and prevent unnecessary further evaluations.


2020 ◽  
Vol 2 ◽  
pp. 136-139
Author(s):  
Chong Yew Ng ◽  
Dorothy Khai Chin Kuek ◽  
Priya Suresh

Gelatinous transformation of bone marrow (GTBM) is a hematological condition found to be associated with states of cachexia and malnourishment, which can be seen in patients with eating disorders, alcoholism, malignancy, and other systemic diseases (such as AIDS, tuberculosis, chronic kidney disease, and chronic heart failure). GTBM is not disease-specific but is a good marker of a severe underlying disease. Initially thought to be a rare finding, newer literature is now demonstrating more cases of GTBM over the past 2 decades, and the alleged rarity may have been attributed to the lack of clinical suspicion and awareness of this condition. We present a case of a young adult female, who has a background of anorexia nervosa and presented with a 4-month history of pain over her left shin. Magnetic resonance imaging (MRI) of the tibia demonstrated the gelatinous transformation of the bone marrow. In this case report, we aim to highlight the underlying pathogenesis of GTBM and its prevalence, its unique distribution within the marrow, its characteristic MRI findings, and how these findings may differ in comparison to normal reconversion marrow and neoplastic infiltration.


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