scholarly journals Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Mohamad Paktinat ◽  
Kamran Hessami ◽  
Soroor Inaloo ◽  
Hamid Nemati ◽  
Pegah Katibeh ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Late Presentation ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Acute Necrotizing Encephalopathy ◽  
High Clinical Suspicion ◽  
Level Of Consciousness ◽  
Acute Necrotizing ◽  
Magnetic Resonance Imaging Mri

Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion. The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients.

scholarly journals An unusual Neuronal Intranuclear Inclusion Disease with Chief Complaint of Autonomic Dysfunction

2019 ◽  
Author(s):  
Xiaoyun Liu ◽  
Xiaohui Liu ◽  
Yifeng Du ◽  
Chunxia Li ◽  
Cuicui liu ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Intranuclear Inclusions ◽  
Resonance Imaging ◽  
Dominant Group ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Level Of Consciousness ◽  
Recurrent Vomiting ◽  
Neuronal Intranuclear Inclusion ◽  
Magnetic Resonance Imaging Mri

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a recently defined disease entity of progressive neurodegenerative disease with characterizations of eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The sporadic adult-onset NIID cases were previous described as ‘dementia dominant group’. Here we present a NIID case manifested prominently with recurrent vomiting. Case presentation A 60-year-old women present with paroxysmal vomiting, hypertention and decreased level of consciousness for 3 years. She was diagnosed with NIID based on history, clinical features, brain magnetic resonance imaging(MRI), skin biopsy. Conclusion Autonomic symptoms may manifest as the initial and predominant presentation of NIID. This case presentation may extend the spectrum of NIID and may give new insights in exploring the pathogenic mechanisms of NIID.

scholarly journals A Case report of Recurrent Vomiting: Extending the Spectrum of Neuronal Intranuclear Inclusion Disease

2019 ◽  
Author(s):  
Xiaoyun Liu ◽  
Xiaohui Liu ◽  
Yifeng Du ◽  
Chunxia Li ◽  
Cuicui liu ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Intranuclear Inclusions ◽  
Resonance Imaging ◽  
Dominant Group ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Level Of Consciousness ◽  
Recurrent Vomiting ◽  
Neuronal Intranuclear Inclusion ◽  
Magnetic Resonance Imaging Mri

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a recently defined disease entity of progressive neurodegenerative disease with characterizations of eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The sporadic adult-onset NIID cases were previous described as ‘dementia dominant group’. Here we present a NIID case manifested prominently with recurrent vomiting. Case presentation A 60-year-old women present with paroxysmal vomiting, hypertention and decreased level of consciousness for 3 years. She was diagnosed with NIID based on history, clinical features, brain magnetic resonance imaging(MRI), skin biopsy. Conclusion Autonomic symptoms may manifest as the initial and predominant presentation of NIID. This case presentation may extend the spectrum of NIID and may give new insights in exploring the pathogenic mechanisms of NIID.

Presentation and Outcome of Acute Necrotizing Encephalopathy of Childhood: A 10-Year Single-Center Retrospective Study From Hong Kong

2020 ◽  
Vol 35 (10) ◽  
pp. 674-680 ◽  
Author(s):  
Chit Kwong Chow ◽  
Che Kwan Louis Ma
Keyword(s):  
Clinical Laboratory ◽  
Resonance Imaging ◽  
Factors Affecting ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing ◽  
Alanine Aminotransferase Level ◽  
Prognostic Outcome ◽  
Potential Factors ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

Acute necrotizing encephalopathy (ANE) is a rare disease in childhood. We reviewed the 10-year data from a local pediatric department, reported the clinical characteristics, laboratory tests, neuroimaging findings, and outcome of the acute necrotizing encephalopathy cases and identified the potential factors affecting the outcome. Eight episodes of acute necrotizing encephalopathy among 7 patients were recorded, in which all of them had an initial presentation of fever and seizure. We identified that acute necrotizing encephalopathy patients with a severe score of Glasgow Coma Scale (GCS) on presentation, brainstem involvement in magnetic resonance imaging (MRI) of the brain, and higher MR imaging scores were associated with worse outcome. Association of outcome with acute necrotizing encephalopathy severity score, platelet count, and serum alanine aminotransferase level did not reach a statistically significant level. These results highlight the importance of combined clinical, laboratory, and neuroimaging findings in determining the prognostic outcome of acute necrotizing encephalopathy patients.

scholarly journals A rare cause of sciatica: Sciatic nerve schwannoma

SICOT-J ◽  
2020 ◽  
Vol 6 ◽  
pp. 16
Author(s):  
Renaud Maes ◽  
Pascal Ledoux ◽  
Grégoire de Brouckere
Keyword(s):  
Magnetic Resonance Imaging ◽  
Sciatic Nerve ◽  
Clinical Presentation ◽  
Imaging Modality ◽  
Final Diagnosis ◽  
Nerve Trunk ◽  
Popliteal Fossa ◽  
Resonance Imaging ◽  
Delay In Diagnosis ◽  
Magnetic Resonance Imaging Mri

The authors report one case of schwannoma located in the sciatic nerve, just above the popliteal fossa. A sciatic localization is rare, observed in 1% of the patients. The misleading clinical presentation of this localization causes a delay in diagnosis. Magnetic Resonance Imaging (MRI) is the imaging modality of choice, but the final diagnosis is made by the histological examination of the tumor. Schwannoma should be surgically removed without division of the nerve trunk.

scholarly journals Laparoscopic surgical management of a mature presacral teratoma: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Liming Wang ◽  
Yasumitsu Hirano ◽  
Toshimasa Ishii ◽  
Hiroka Kondo ◽  
Kiyoka Hara ◽  
...  
Keyword(s):  
Laparoscopic Resection ◽  
Mature Teratoma ◽  
Skin Incision ◽  
Histopathological Diagnosis ◽  
Tailgut Cyst ◽  
Resonance Imaging ◽  
Presumptive Diagnosis ◽  
Case Presentation ◽  
Contrast Enhanced ◽  
Magnetic Resonance Imaging Mri

Abstract Background Mature presacral (retrorectal) teratoma is very rare. We report a case in which a mature retrorectal teratoma in an adult was successfully treated with laparoscopic surgery. Case presentation A 44-year-old woman was diagnosed with a presacral tumor during a physical examination. Endoscopic ultrasonography (EUS) revealed a multilocular cystic lesion; the lesion was on the left side of the posterior rectum and measured approximately 30 mm in diameter on both contrast-enhanced pelvic computed tomography (CT) and magnetic resonance imaging (MRI). The presumptive diagnosis was tailgut cyst. However, the histopathological diagnosis after laparoscopic resection was mature teratoma. It is still difficult to preoperatively diagnose mature retrorectal teratomas. Conclusions Laparoscopic resection of mature retrorectal teratomas is a feasible and promising method that is less invasive and can be adapted without extending the skin incision.

scholarly journals Lymphangiography and focal pleurodesis treatment of chylothorax with an aberrant thoracic duct following oesophagectomy: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Tomoyuki Ishida ◽  
Jun Kanamori ◽  
Hiroyuki Daiko
Keyword(s):  
Magnetic Resonance Imaging ◽  
Interventional Radiology ◽  
Case Report ◽  
Magnetic Resonance ◽  
Thoracic Duct ◽  
Rare Case ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Thoracostomy Tube ◽  
Magnetic Resonance Imaging Mri

Abstract Background Management of postoperative chylothorax usually consists of nutritional regimens, pharmacological therapies such as octreotide, and surgical therapies such as ligation of thoracic duct, but a clear consensus is yet to be reached. Further, the variation of the thoracic duct makes chylothorax difficult to treat. This report describes a rare case of chylothorax with an aberrant thoracic duct that was successfully treated using focal pleurodesis through interventional radiology (IVR). Case presentation The patient was a 52-year-old man with chylothorax after a thoracoscopic oesophagectomy for oesophageal cancer. With conventional therapy, such as thoracostomy tube, octreotide or fibrogammin, a decrease in the amount of chyle was not achieved. Therefore, we performed lymphangiography and pleurodesis through IVR. The patient appeared to have an aberrant thoracic duct, as revealed by magnetic resonance imaging (MRI); however, after focal pleurodesis, the leak of chyle was diminished, and the patient was discharged 66 days after admission. Conclusions Chylothorax remains a difficult complication. Focal pleurodesis through IVR can be one of the options to treat chylothorax.

scholarly journals Extended Cranial Ultrasound Views in Infants with Acute Brain Stem/Infratentorial Lesions: Diagnosis of a Progressive Midline Glioma in a 6-Week-Old Infant

2021 ◽  
Vol 11 (01) ◽  
pp. e262-e264
Author(s):  
Matthias Lange ◽  
Bernd Mitzlaff ◽  
Florian Beske ◽  
Holger Koester ◽  
Wiebke Aumann ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
World Health ◽  
Cranial Ultrasound ◽  
Anterior Fontanel ◽  
Resonance Imaging ◽  
Who Grade ◽  
Magnetic Resonance Imaging Mri ◽  
Health Organization ◽  
Mastoid Fontanelle ◽  
Diffuse Midline Glioma

AbstractCentral nervous system (CNS) tumors are the most common solid tumors in children and adolescents. However, in neonates and children aged younger than a year, they are very rare. Clinical presentation in neonates is often subtle and nonspecific. When neurological symptoms are apparent at this age, cranial ultrasound (CUS) is often done as the initial evaluation, with a standard approach through the anterior fontanel (AF), followed by further imaging, such as magnetic resonance imaging (MRI), if necessary. We report the first neonatal case of a rapidly progressive diffuse midline glioma positive for histone H3 K27M mutation (World Health Organization [WHO] grade IV) in which using extended (transmastoid) CUS studies through the mastoid fontanelle (MF) in the second month of life defined the lesion in the brainstem.

A case of severe SARS-CoV-2 infection with negative nasopharyngeal PCR in pregnancy

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Anna Fuchs ◽  
Lauren Harris ◽  
Ashley Huber ◽  
Mia Heiligenstein ◽  
Cassandra Heiselman ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Status ◽  
Igg Antibodies ◽  
Premature Rupture Of Membranes ◽  
Premature Rupture ◽  
Case Presentation ◽  
Preterm Premature Rupture ◽  
High Clinical Suspicion ◽  
Maternal Status

Abstract Objectives SARS-CoV-2 remains a pressing issue for our obstetric community during the current pandemic. We present a case of a 22-year-old nulliparous woman 31 weeks pregnant, with significant clinical SARS-CoV-2 disease, in the setting of negative nasopharyngeal PCR testing but positive IgG antibodies. Case presentation This was a 22-year-old patient 31 weeks pregnant who presented with fever, tachycardia, and subsequently preterm premature rupture of membranes (PPROM) and pulmonary emboli with multifocal pneumonia. The patient underwent three negative SARS-CoV-2 tests via nasopharyngeal PCR testing during her hospital stay as well as a negative workup for fever. After a cesarean section for worsening maternal status after 7 days of hospitalization, the patient was admitted for worsening clinical status to the SICU. At the time of SICU admission patient was found to have serum IgG positive antibodies and was managed with intubation, antibiotics, and anticoagulation. Patient eventually left hospital against medical advice on hospital day 16 on oral antibiotics but was found to be recovering well at later outpatient follow up. Conclusions Diagnosis of SARS-CoV-2 remains a complicated picture in the setting of testing limitations. This case highlights an antepartum clinical presentation of severe SARS-CoV-2 and recommends a high clinical suspicion for diagnosis of SARS-CoV-2 and initiation of treatment in the pregnant population, even in the presence of negative nasopharyngeal PCR testing.

ACROMEGALY UNVEILED DURING A NASAL RECONSTRUCTION SURGERY: A CASE REPORT

2021 ◽  
pp. 66-68
Author(s):  
Kiran Shah ◽  
Ishant Bhanarkar ◽  
Vasavdatta Sharma ◽  
Durvesh Bhangale ◽  
Vinod Pawara ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Somatic Growth ◽  
Care Physician ◽  
Nasal Reconstruction ◽  
Thyroid Function Tests ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
New Diagnosis ◽  
Gh Excess

Acromegaly is a condition of excessive somatic growth and distorted proportion due to hypersecretion of growth hormone(GH) and insulin-like growth factor 1 (IGF-1). Insidious clinical manifestation of GH excess as a result of GH-secreting pituitary adenoma renders acromegaly a disease with typically delayed diagnosis. We report a 29-year old male planned to undergo reconstruction of the nose. The patient was referred for medical tness. Given the clinical features consistent with acromegaly the patient was evaluated further for diagnosis. Laboratory investigation showed raised IGF-1and non-suppressed GH post 75gms glucose, amid normal cortisol, corticotropin(ACTH), prolactin, testosterone, and thyroid function tests. He did not have dysglycemia. Magnetic resonance imaging (MRI) of the pituitary revealed a pituitary macroadenoma consistent with acromegaly. This case highlights the notable absence of recognizing the clinical presentation of acromegaly in this patient by his medical care physician and surgeons, and therefore the importance of thorough history taking, attention, and observation in making a new diagnosis that has the potential to alter a patient's health care and alleviate impending complications, morbidity and/or mortality

scholarly journals Serial MR Imaging of Adult-Onset Rasmussen's Encephalitis

2011 ◽  
Vol 38 (1) ◽  
pp. 141-142 ◽  
Author(s):  
Myriam Irislimane ◽  
François Guilbert ◽  
Jean-Maxime Leroux ◽  
Lionel Carmant ◽  
Dang Khoa Nguyen
Keyword(s):  
Clinical Presentation ◽  
Subcortical White Matter ◽  
Adult Onset ◽  
Resonance Imaging ◽  
Rasmussen’S Encephalitis ◽  
Arm Muscles ◽  
Cerebral Biopsy ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Progressive Dysphagia

A 52-year-old woman was referred for a progressive neurological condition which started a year before with continuous irregular twitching of the right facial and arm muscles as well as the tongue and palate, followed by progressive dysphagia, right hemiparesis, ataxia, dysphasia and dysarthria. Though magnetic resonance imaging (MRI) at clinical presentation and a year after were both normal (Figure A1), Rasmussen's encephalitis (RE) was strongly suspected and treatment with corticosteroids and immunoglobulins were begun. A third MRI, two years after onset, revealed mild T2 hyperintense subcortical white matter changes over the left perisylvian region (Figure A) which confirmed our initial suspicion of RE as she now met clinical, electrophysiological and morphological criterias for RE. While waiting for a cerebral biopsy after unsatisfactory response from antiepileptic drugs, corticosteroids and immunoglobulins, her condition markedly worsened less than three years after onset with the sudden occurrence of status epilepticus requiring intubation and continuous infusions of midazolam and propofol.

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