Perampanel overdose in low body mass index patients with epilepsy: a case report and review of the literature

Abstract Background Perampanel (PER) is a novel antiepileptic drug (AED) which employs a completely different mechanism of action compared to existing medications. Overall, PER is considered to be safe up to a dose of 12 mg per day. When used to treat refractory and super-refractory status epilepticus, PER seems to be extremely well tolerated; this is true even when used at doses of up to 32 mg. There are currently only three case reports on the effects of acute PER overdose in epilepsy patients. Case presentation We report a 16-year-old Thai woman with a low body weight, who took PER at a dose of 40 times that of the prescribed daily dose. She experienced only an alteration of consciousness, without any systemic medical effects, and made a full recovery within 3 days without gastric lavage or specific treatment. Conclusion Our report demonstrates that an acute PER overdose may not produce serious adverse systemic effects. Individuals with adverse central nervous system (CNS) effects, such as altered consciousness, can experience a rapid recovery.

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Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

African Journal of Urology ◽

10.1186/s12301-019-0006-1 ◽

2019 ◽

Vol 25 (1) ◽

Author(s):

Danielle Whiting ◽

Ian Rudd ◽

Amit Goel ◽

Seshadri Sriprasad ◽

Sanjeev Madaan

Keyword(s):

Case Reports ◽

Case Presentation ◽

Open Adrenalectomy ◽

Large Size ◽

History Of ◽

Loin Pain ◽

Benign Tumours ◽

Spontaneous Haemorrhage ◽

Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

Journal of Neuromuscular Diseases ◽

10.3233/jnd-200596 ◽

2021 ◽

pp. 1-21

Author(s):

Antonio Atalaia ◽

Rabah Ben Yaou ◽

Karim Wahbi ◽

Annachiara De Sandre-Giovannoli ◽

Corinne Vigouroux ◽

...

Keyword(s):

Rare Diseases ◽

Case Reports ◽

Phenotypic Expression ◽

Genetic Diagnosis ◽

Specific Treatment ◽

Case Series ◽

Treatment Recommendations ◽

Scientific Data ◽

Bibliographic Databases ◽

Central Registry

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.

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Clozapine-induced stuttering in the absence of known risk factors: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02803-8 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Florence Jaguga

Keyword(s):

Risk Factors ◽

Family History ◽

Side Effect ◽

Case Reports ◽

Extrapyramidal Symptoms ◽

Prior History ◽

Case Presentation ◽

Rare Side Effect ◽

History Of ◽

Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

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Fibromuscular dysplasia with recurrence after “long-term” following percutaneous transcatheter renal angioplasty: two case reports with a review of 26 patients

BMC Nephrology ◽

10.1186/s12882-021-02342-w ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Shuntaro Oribe ◽

Takafumi Toyohara ◽

Eikan Mishima ◽

Takehiro Suzuki ◽

Koichi Kikuchi ◽

...

Keyword(s):

Fibromuscular Dysplasia ◽

Age Of Onset ◽

Case Reports ◽

Case Presentation ◽

Renal Angioplasty ◽

Long Term Follow Up ◽

Percutaneous Transluminal Renal Angioplasty ◽

The Difference

Abstract Background Fibromuscular dysplasia (FMD) often causes renal artery stenosis with renovascular hypertension. Recent clinical outcomes encourage percutaneous transluminal renal angioplasty (PTRA) to treat FMD; however, the necessary follow-up period remains unclear. Moreover, previous studies have not revealed the difference in the period until recurrence between two major types of FMD—multifocal and focal. Case presentation We describe two patients with multifocal FMD who developed hypertension during their teenage years and had recurrence of FMD > 10 years after PTRA. We further examined the types of FMD and age of onset in 26 patients who underwent PTRA. The period until recurrence of multifocal FMD was longer than that of focal FMD. Moreover, patients with early-onset multifocal FMD are likely to have a delayed recurrence after PTRA compared to other types. Conclusions Our report suggests that patients with multifocal FMD, especially those with onset at an early age, may need long-term follow-up for at least ≥ 10 years.

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Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

The Journal of Headache and Pain ◽

10.1186/s10194-021-01221-x ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Fabio Antonaci ◽

Sabrina Ravaglia ◽

Gaetano S. Grieco ◽

Stella Gagliardi ◽

Cristina Cereda ◽

...

Keyword(s):

Case Reports ◽

3D Structure ◽

Familial Hemiplegic Migraine ◽

Transmembrane Helices ◽

Hemiplegic Migraine ◽

Case Presentation ◽

Italian Family ◽

Protein Prediction ◽

Functional Consequences

Abstract Background The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe. No genotype-phenotype correlations have been attempted. Case presentation We describe an Italian family with FHM and a missense ATP1A2 variant (L425H) not previously described. The clinical picture was mild in all the affected members. Conclusions Co-segregation of the variant with the aura phenotype was complete in this family, suggesting a 100% penetrance. In silico protein prediction softwares indicate that this variant may change the 3D structure of ATPA1A2 at the cytoplasmic loop between the two central transmembrane helices. Milder FHM phenotypes are rarely reported in literature, likely because case reports are biased towards the most severe phenotypes, with milder forms possibly misdiagnosed as sporadic migraine with aura forms (MAs), even with complex auras. Further studies taking into account intra-familiar variability and functional consequences on the channel protein may help clarify genotype-phenotype correlations.

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Severe pneumonia caused by Parvimonas micra: a case report

BMC Infectious Diseases ◽

10.1186/s12879-021-06058-y ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Qing Yu ◽

Lingling Sun ◽

Zuqing Xu ◽

Lumei Fan ◽

Yunbo Du

Keyword(s):

Bronchoalveolar Lavage Fluid ◽

Case Reports ◽

Severe Pneumonia ◽

Lavage Fluid ◽

Due Date ◽

Case Presentation ◽

Abdominal Abscesses ◽

Parvimonas Micra ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Abstract Background Parvimonas micra (P. micra) is a gram-positive anaerobic coccus that is detected widely on the skin, in the oral mucosa and in the gastrointestinal tract. In certain circumstances, P. micra can cause abdominal abscesses, bacteraemia and other infections. To the best of our knowledge, there have been no case reports describing the biological characteristics of P. micra-related pneumonia. These bacteria do not always multiply in an aerobic organ, such as the lung, and they could be easily overlooked because of the clinical mindset. Case presentation A 35-year-old pregnant woman was admitted to the emergency department 4 weeks prior to her due date who was exhibiting 5 points on the Glasgow coma scale. A computed tomography (CT) scan showed a massive haemorrhage in her left basal ganglia. She underwent a caesarean section and brain surgery before being admitted to the ICU. She soon developed severe pneumonia and hypoxemia. Given that multiple sputum cultures were negative, the patient’s bronchoalveolar lavage fluid was submitted for next-generation sequencing (NGS) to determine the pathogen responsible for the pneumonia; as a result, P. micra was determined to be the causative pathogen. Accordingly the antibiotic therapy was altered and the pneumonia improved. Conclusion In this case, we demonstrated severe pneumonia caused by the anaerobic organism P. micra, and the patient benefited from receiving the correct antibiotic. NGS was used as a method of quick diagnosis when sputum culture failed to distinguish the pathogen.

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Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature

BMC Medical Genomics ◽

10.1186/s12920-021-00912-3 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Lichun Xie ◽

Zhihao Xing ◽

Changgang Li ◽

Si-xi Liu ◽

Fei-qiu Wen

Keyword(s):

De Novo ◽

Hereditary Spherocytosis ◽

Case Reports ◽

De Novo Mutation ◽

Case Presentation ◽

Important Means ◽

Genetic Detection ◽

Membrane Defects ◽

Severe Jaundice ◽

Neonates And Infants

Abstract Background To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations result in HS, including mutations in ANK1. Case presentation A term neonate presented at ten hours with severe jaundice requiring exchange transfusion. At two months he was hospitalized due to repeated pallor and anemia requiring blood transfusions. Using next-generation sequencing, we discovered the responsible mutation in the proband but not in his parents; a heterozygous nucleotide variation of c.1000delA (p.1334Sfs*6) in ANK1. Thus hereditary spherocytosis was diagnosed. Conclusions Genetic detection is an important means of discovering the cause of hemolytic anemia in neonates and infants where routine diagnostic tests are unrevealing. We found a novel de novo mutation, c.1000delA (p.1334Sfs*6) in ANK1 that might account for other cases of HS in the Chinese population.

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Imipramine Poisoning

Pediatrics in Review ◽

10.1542/pir.1.10.317 ◽

1980 ◽

Vol 1 (10) ◽

pp. 317-320

Author(s):

Quang X. Nghiem ◽

Randy C. Randel ◽

Thomas L. Leach

Keyword(s):

Case Report ◽

Cardiogenic Shock ◽

Cardiac Toxicity ◽

Gastric Lavage ◽

Anticholinergic Syndrome ◽

Case Presentation ◽

Common Cause ◽

Adults And Children ◽

Electrocardiographic Changes ◽

Good Agent

The incidence of imipramine poisoning in adults and children is increasing. Toxic effects include an anticholinergic syndrome in the early phase and direct cardiotoxicity that produces abnormalities in rhythm, conduction, and depression of contractility in later phases. In fatal cases, the cardiotoxicity is the most common cause of death. Electrocardiographic changes are so characteristic of imipramine poisoning that the diagnosis can be made or at least suspected on the basis of electrocardiographic alteration. This is illustrated by the case report. Treatment includes induced emesis and/or gastric lavage to remove unabsorbed drug. Diazepam followed by phenobarbital is used to control seizures. Physostigmine is a good agent for treatment of the anticholinergic syndrome, including supraventricular hyperexcitability. Lidocaine is useful for ventricular hyperexcitability. As shown in the case presentation, epinephrine can be effective in reversing the most advanced manifestation of cardiac toxicity, cardiogenic shock.

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Rituximab monotherapy for splenic marginal zone lymphoma with villous lymphocytes: report on long-term disease control for two patients with recurrence after splenectomy

Sao Paulo Medical Journal ◽

10.1590/s1516-31802010000600012 ◽

2010 ◽

Vol 128 (6) ◽

pp. 375-377 ◽

Cited By ~ 1

Author(s):

Márcio Debiasi ◽

Marluce Hehnemann ◽

Bernardo Garicochea

Keyword(s):

Randomized Clinical Trials ◽

Marginal Zone ◽

Treatment Guidelines ◽

Case Reports ◽

Specific Treatment ◽

Marginal Zone Lymphoma ◽

Splenic Marginal Zone Lymphoma ◽

Purine Analogues ◽

Relapsed Lymphoma

CONTEXT: Splenic marginal zone lymphoma (SMZL) is a lymphoproliferative B-cell disorder that has a favorable prognosis, with estimated overall five-year survival of 70%. The majority of symptomatic patients undergo splenectomy, while a few receive first-line chemotherapy, especially with purine analogues. There are no specific treatment guidelines for patients for whom splenectomy fails to provide a cure. It is still unclear whether these patients should undergo cytotoxic chemotherapy, considering they have now a relapsed lymphoma (which is theoretically more aggressive), or whether they should be spared from treatments of greater toxicity, given that their disease usually develops with a more indolent course, even when it recurs. CASE REPORT: Here, we present two patients whose disease recurred after splenectomy and for whom rituximab monotherapy provided satisfactory treatment. From these cases, it can be suggested that postponement of cytotoxic treatments may be possible in at least some situations. It needs to be emphasized that the evidence to support this approach is based only on case reports, since there are no randomized clinical trials on this subject.

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Chilaiditi Syndrome: A Case Report Highlighting the Intermittent Nature of the Disease

Case Reports in Medicine ◽

10.1155/2018/3515370 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Esha M. Kapania ◽

Christina Link ◽

Joshua M. Eberhardt

Keyword(s):

Case Report ◽

Complete Resolution ◽

Clinical Symptoms ◽

Case Reports ◽

Delayed Diagnosis ◽

Spontaneous Resolution ◽

Radiographic Evidence ◽

Case Presentation ◽

Chilaiditi Syndrome

Background. Chilaiditi syndrome is a phenomenon where there is an interposition of the colon between the liver and the abdominal wall leading to clinical symptoms. This is distinct from Chilaiditi sign for which there is radiographic evidence of the interposition, but is asymptomatic. Case Presentation. Here, we present the case of a patient who, despite having clinical symptoms for a decade, had a delayed diagnosis presumably due to the interposition being intermittent and episodic. Conclusions. This case highlights the fact that Chilaiditi syndrome may be intermittent and episodic in nature. This raises an interesting question of whether previous case reports, which describe complete resolution of the syndrome after nonsurgical intervention, are perhaps just capturing periods of resolution that may have occurred spontaneously. Because the syndrome may be intermittent with spontaneous resolution and then recurrence, patients should have episodic follow-up after nonsurgical intervention.

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