scholarly journals A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heterozygous Gene Variant of Carbomoyl Phosphatase Synthetase Deficiency

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Imalke Kankananarachchi ◽  
Eresha Jasinge ◽  
Gemunu Hewawitharana
Keyword(s):  
Side Effect ◽  
Slow Wave Sleep ◽  
Elevated Serum ◽  
Normal Liver ◽  
Amino Acid Profile ◽  
Genetic Mutation ◽  
Childhood Epilepsy ◽  
Gene Variant ◽  
Rolandic Epilepsy ◽  
The Right

Antiepileptics drugs are the mainstay of the management of epilepsy in children. Sodium valproate (VPA) and carbamazepine (CBZ) are widely used medications in childhood epilepsy. Hyperammonemia has been described as a known side effect of valproate therapy. It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). Aggravation of self-limited epilepsy with centrotemporal spikes (SLECTS) is a rare side effect of CBZ. Here, we present a child who had CBZ-induced aggravation of rolandic epilepsy and VPA-induced HA encephalopathy in the background of an unrecognised heterozygous gene variant of CPS1. An 8-year-old boy with SLECTS presented with a history of abnormal behaviours and drowsiness. He was apparently well until six years when he developed seizures in favour of rolandic epilepsy. His electroencephalogram (EEG) showed bilateral predominantly on the right-sided central-temporal spikes and waves. The diagnosis of SLECTS was made, and he was commenced on CBZ. Though he showed some improvement at the beginning, his seizure frequency increased when the dose of CBZ was increased. His repeat EEG showed electrical status in slow-wave sleep, and CBZ was stopped. Subsequently, he was started on VPA, and with that, he developed features of encephalopathy. He had elevated serum ammonia with normal liver functions. VPA was stopped with the suspicion of VPA-induced hyperammonemia. Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. This is a classic example where side effects of treatment determine the choice of antiepileptics drugs (AEDs) in childhood epilepsy. It is essential to keep in mind that SLECTS can be aggravated with certain AEDs, and VPA-induced HA in the absence of live failure could be due to underlying inherited metabolic disorders.

Segmental Neurofibromatosis Follows Blaschko's Lines or Dermatomes Depending on the Cell Line Affected: Case Report and Literature Review

2004 ◽  
Vol 8 (5) ◽  
pp. 353-356
Author(s):  
Fara P. Redlick ◽  
James C. Shaw
Keyword(s):  
Schwann Cells ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Cell Types ◽  
Genetic Mutation ◽  
The Body ◽  
Chromosome 17 ◽  
Medline Search ◽  
Characteristic Features ◽  
The Right

Background: Segmental neurofibromatosis type 1 (NF-1) has the characteristic features of generalized NF-1 but is isolated to a particular segment of the body. Segmental NF-1 results from a postzygotic mutation during embryogenesis in the NF-1 gene on chromosome 17. The embryologic timing of the mutation and cell types affected predict the clinical phenotype. Objective: We present a case of a 52-year-old woman with segmental neurofibromas isolated to the right cheek and neck. We review the recent literature on the genetic and cellular differences between the various clinical manifestations of segmental NF-1. Methods: A MEDLINE search for cases of segmental neurofibromatosis was conducted. Results: In patients with segmental NF-1 presenting as neurofibromas-only, the distribution follows a neural distribution in dermatomes because the genetic mutation appears to be limited to Schwann cells. In patients with pigmentary changes only, the NF-1 mutation has been shown to occur in fibroblasts and the distribution tends to follow the lines of Blaschko. Conclusion: Our patient's neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest–derived cells. This mutation most likely occurred later in embryogenesis in cells that had already differentiated to Schwann cells and were committed to the dermatomal distribution of the right neck and cheek region (C2).

scholarly journals Immunoglobulin G4-related disease - diagnostic dilemma and importance of clinical judgement: a case report

2020 ◽  
Vol 8 (11) ◽  
pp. 4144
Author(s):  
Jagadeesh Chandrasekaran ◽  
Phani Krishna Machiraju
Keyword(s):  
Early Recognition ◽  
Elevated Serum ◽  
Antineutrophil Cytoplasmic Antibodies ◽  
Inflammatory Disorder ◽  
Imaging Features ◽  
Immunoglobulin G4 ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Serum Igg4 ◽  
The Right

Immunoglobulin G4 (IgG4)-related disease is a multi-organ, immune-mediated, fibro-inflammatory disorder characterized by tumefactive masses in the affected organs. Incidence and prevalence of IgG4-related disease (RD) are not clearly known and have slight male preponderance. It often involves multiple organs at the time of presentation or over the course of disease mimicking malignancy, Sjogren's syndrome, antineutrophil cytoplasmic antibodies associated vasculitis, infections. A thorough workup is needed to rule out these mimickers. A 33-year-old gentleman presented to us with history of progressive swelling in the right peri-orbital region for four years. On evaluation, abdominal imaging was notable for the sausage-shaped pancreas and hypoenchancing nodules in bilateral kidneys. Histological examination of right lacrimal gland revealed lymphoplasmacytic infiltrate and storiform fibrosis. Serum IgG4 levels were normal, and immunostaining was negative. A diagnosis of IgG4-RD was suggested because of multi-organ involvement, classical radiological and histopathological features. Awareness about IgG4-RD, an under-recognized entity is essential, as it is treatable, and early recognition may help in a favourable outcome. Appropriate use of clinicopathological, serological and imaging features in the right clinical context may help in accurate diagnosis. Elevated serum IgG4 levels and biopsy are not mandatory for the diagnosis.

scholarly journals SAT-380 A Case of Primary Hyperparathyroidism on the Third Trimester of Pregnancy

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Maria Alexandra Carranceja Villapol ◽  
Maria Princess L Kanapi
Keyword(s):  
Blood Pressure ◽  
Abdominal Pain ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Elevated Serum ◽  
Stable Condition ◽  
Abdominal Ultrasound ◽  
Pressure Control ◽  
Ibandronic Acid ◽  
The Right

Abstract Introduction: This is the case of a pregnant woman on her 3rd trimester who was diagnosed with primary hyperparathyroidism. Since there are two patients involved, the potential complications that can be brought about by the diagnostic tests and the treatment had to be weighed against the benefits. Case: The patient is SA, a 34-year old female on her 29th week of pregnancy, admitted due to a month history of abdominal pain described as intermittent, crampy, generalized, non-radiating, and mild-to-moderately severe in intensity. She was advised to do tests but did not comply. In the interim, there was recurrence of symptoms but with resolution. However, the crampy abdominal pain recurred, now localized at the right upper quadrant and epigastric areas, radiating to the right upper back, moderate in intensity, and with associated nausea and vomiting, leading to admission. She was first managed under OB-Gynecology, given hydration, pain management and Betamethasone. She was also referred to Cardiology for blood pressure control, and Surgery for evaluation of the abdominal pain. Due to an increasing trend of her blood glucose, she was referred to Endocrinology and started on insulin. Mild bilateral nephrocalcinoses seen in an abdominal ultrasound prompted work-up showing an elevated serum ionized calcium at 1.88 meq/L (n 1.12-1.32 meq/L), elevated intact PTH at 451.13 pg/ml (n <67.9 pg/ml), and low Vitamin D at 10.96 ng/ml (n >30ng/ml). Parathyroid ultrasound showed nonthyroidal tissue measuring 0.4 x 0.6 cm at the right inferior area. Saline hydration and diuresis with Furosemide were started to manage the hypercalcemia. A multi-disciplinary meeting was held to discuss the options for management and risks involved. The goal was to deliver the baby in stable condition possibly to term, while keeping maternal calcium levels and blood pressure normal. However on her 30th week of gestation, she had persistent elevated blood pressure and underwent emergency caesarian section. After delivery, the patient was advised against breastfeeding for adequate management of her hypercalcemia. She was started on Cinacalcet, Calcitonin, and Ibandronic Acid. A Parathyroid Sestamibi Scan done showed a parathyroid adenoma on the right inferior lobe, and she underwent right inferior parathyroidectomy, with left thyroidectomy and isthmusectomy. Findings showed a right inferior parathyroid adenoma and a benign follicular nodule on the left thyroid. She was started on Calcium Carbonate and Calcitriol, and discharged stable. Conclusions: This case shows that when two lives are at stake every step of the management, whether diagnostic or therapeutic, must be communicated well to the patient and to the other members of the team. It is ultimately a choice made by the expectant mother but through the proper guidance and updated knowledge of the team, combined with a good clinical eye especially in the treatment of pregnant women.

scholarly journals Immunoglobulin A Nephropathy as the First Clinical Presentation of Wilson Disease: A Case Report and Literature Review

2021 ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  
Keyword(s):  
Renal Function ◽  
Iga Nephropathy ◽  
Wilson Disease ◽  
Genetic Disorder ◽  
Immunoglobulin A ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Normal Liver

Abstract Background: Wilson disease (WD) is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical picture makes it easy to miss and misdiagnose, even delay the best chance for treatment. Case presentation: A 26-year-old male patient who had nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated Immunoglobulin A (IgA) nephropathy and tubular injury which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. According to further detected results of abnormal copper metabolism, corneal Kayser-Fleischer rings(K-F rings), and genetic disorder of ATP7B gene, he was finally diagnosed as a case of WD.The patient was given oral penicillamine and zinc sulfate daily and he was also prescribed losartan to control proteinuria on the premise of monitoring renal function and blood pressure. During the 2 years follow-up, the patient’s 24h uric cooper dropped to normal. The sign of tremor hands disappeared. The Urine protein and renal function keep stable. The patient had normal liver function and maintained good quality of daily life. Conclusions: In some cases, IgA nephropathy patients with suspicious and unexplained neurological and liver symptoms cannot be ignored. They may eventually be diagnosed with WD.

scholarly journals The effect of unsecured use of chemical pesticides on the environment and health in Iraq

2004 ◽  
Vol 1 (2) ◽  
pp. 180-189
Author(s):  
Baghdad Science Journal
Keyword(s):  
Mass Media ◽  
Side Effect ◽  
Environment And Health ◽  
The Future ◽  
Negative Effect ◽  
The Right ◽  
Chemical Pesticides

The wide use of pesticides in recent years leads to rapid distribution of these pollutants in the environment (air, water and soil).They were transported by means of air or water to biological ecosystems. They become more toxic through the processes of biological magnification while some of them persist for along period.The aim of this work is to show the negative effect that chemical pesticides causes, and in the same to show their side effect on the environment and health in Iraq. We could conclude that the bad use of these chemicals could cause an urgent impact now or in the future. Governmental offices dealing with these materials should take the right measures to minimize the danger and the misuse of these chemicals by seeking alternatives ways of control. That may be safer and has no haphazard effect on health and environment, keeping in mind that mass media of clarification of the danger of these pesticides is fundamental duty to keep better health and environment in Iraq.

Frontotemporal dementia and psychosis: Literature review

2016 ◽  
Vol 33 (S1) ◽  
pp. S367-S367
Author(s):  
D. Brandão ◽  
J. Massano
Keyword(s):  
Literature Review ◽  
Frontotemporal Dementia ◽  
Positive Family History ◽  
Genetic Mutation ◽  
Conclusive Evidence ◽  
Psychotic Symptoms ◽  
Initial Symptom ◽  
Clinical Criteria ◽  
Competing Interest ◽  
The Right

IntroductionFrontotemporal dementia (FTD) is a progressive neurodegenerative disease especially sporadic. About 30–40% have positive family history, with an identifiable genetic mutation in a percentage of cases increasing. Although the FTD psychosis has been recognized for many years, it is not included in the clinical criteria.ObjectivesTo assess the prevalence and characteristics of psychotic symptoms in FTD, compare the presence of psychosis in FTD C9+ versus C9− and analyze the occurrence of wrong diagnoses in FTD with psychosis.MethodsLiterature review, using computerized databases (Pubmed®). Articles were selected based on the content of their abstract and their relevance.ResultsIt is frequently the presence of psychotic symptoms in FTD associated with C9+ versus C9−. These may arise as initial symptom often leading to a psychiatric diagnosis years before obtaining diagnosis of FTD. There is no conclusive evidence about the anatomical correlation of psychotic features in the FTD, although there is the possible association with the right brain degeneration.ConclusionsThe existence of psychotic symptoms do not argues against the diagnosis of FTD verifying a high frequency of psychosis in FTD – C9+. As can be the first symptom in FTD is critical to differentiate psychiatric disorders. Further studies are needed in order to obtain a better characterization of psychotic symptoms in FTD – C9+.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Neem tree (Azadirachta indica) extract specifically suppresses the growth of tumors in H22-bearing Kunming mice

2016 ◽  
Vol 71 (7-8) ◽  
pp. 201-208 ◽  
Author(s):  
Zhenxiang He ◽  
Cuihua Jiang ◽  
Jian Zhang ◽  
Zhiqi Yin ◽  
Zengfang Yin ◽  
...  
Keyword(s):  
Body Weight ◽  
Survival Rate ◽  
Azadirachta Indica ◽  
Normal Liver ◽  
Positive Control ◽  
High Dose ◽  
Intragastric Administration ◽  
Neem Tree ◽  
Specific Cytotoxicity ◽  
The Right

Abstract Recently, neem tree (Azadirachta indica) extract (NTE) has been reported to have various antitumor activities against gastric, breast, prostate, and skin cancer, respectively. The current study was designed to evaluate the effect of NTE on hepatic cancer in a mouse model. The possible side effects elicited by NTE were also evaluated. The components in NTE were analyzed by liquid chromatography–mass spectrometry (LC-MS). H22 cells-bearing Kumming mice were generated by injecting H22 cells subcutaneously into the right forelimb armpit of the mice. Then the mice were treated daily for 27 days with NTE (150, 300, and 600 mg/kg body weight) by intragastric administration, using carboxymethyl cellulose (CMC, 1%) as blank control and cyclophosphamide (CTX, 20 mg/kg) as positive control. The antitumor effect of NTE was evaluated by assessment of survival rate, body weight, tumor volume and weight, tumor histology, thymus and spleen indexes, and liver histology. The tumor weight and volume in groups of NTE and CTX were significantly lower than those in the CMC group. The survival rate in the NTE group receiving the high dose (600 mg/kg) was significantly higher than that in the CTX and CMC groups. Compared with CTX, NTE was observed to have a tumor-specific cytotoxicity without impairing the normal liver tissue. Additionally, the higher indexes of thymus and spleen indicated that NTE could facilitate the growth of immune organs. The results indicate that NTE is a promising candidate for the antitumor treatment with high efficacy and safety.

Intravoxel incoherent motion imaging has the possibility to detect liver abnormalities in young Fontan patients with good hemodynamics

2019 ◽  
Vol 29 (7) ◽  
pp. 898-903 ◽  
Author(s):  
Kazuhiro Shiraga ◽  
Kojiro Ono ◽  
Ryo Inuzuka ◽  
Hiroko Asakai ◽  
Takumi Ookubo ◽  
...  
Keyword(s):  
Laboratory Test ◽  
Molecular Diffusion ◽  
Normal Liver ◽  
Fontan Circulation ◽  
Intravoxel Incoherent Motion ◽  
Non Invasive ◽  
Imaging Parameters ◽  
The Right ◽  
Motion Imaging ◽  
Fontan Patients

AbstractIntroduction:Liver fibrosis and cirrhosis are one of the critical complications in Fontan patients. However, there are no well-established non-invasive and quantitative techniques for evaluating liver abnormalities in Fontan patients. Intravoxel incoherent motion diffusion-weighted imaging with MRI is a non-invasive and quantitative method to evaluate capillary network perfusion and molecular diffusion. The objective of this study is to assess the feasibility of intravoxel incoherent motion imaging in evaluating liver abnormalities in Fontan children.Materials and Methods:Five consecutive Fontan patients and four age-matched healthy volunteers were included. Fontan patients were 12.8 ± 1.5 years old at the time of MRI scan. Intravoxel incoherent motion imaging parameters (D, D*, and f values) within the right hepatic lobe were compared. Laboratory test, ultrasonography, and cardiac MRI were also conducted in the Fontan patients. Results of cardiac catheterization conducted within one year of the intravoxel incoherent motion imaging were also examined.Results:In Fontan patients, laboratory test and liver ultrasonography showed almost normal liver condition. Cardiac catheter and MRI showed good Fontan circulation. Cardiac index was 2.61 ± 0.23 L/min/m2. Intravoxel incoherent motion imaging parameters D, D*, and f values were lower in Fontan patients compared with controls (D: 1.1 ± 0.0 versus 1.3 ± 0.2 × 10−3 mm2/second (p = 0.04), D*: 30.8 ± 24.8 versus 113.2 ± 25.6 × 10−3 mm2/second (p < 0.01), and f: 13.2 ± 3.1 versus 22.4 ± 2.4% (p < 0.01), respectively).Conclusions:Intravoxel incoherent motion imaging is feasible for evaluating liver abnormalities in children with Fontan circulation.

scholarly journals Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

2017 ◽  
Vol 2017 ◽  
Author(s):  
Marina Tsoli ◽  
Anna Angelousi ◽  
Dimitra Rontogianni ◽  
Constantine Stratakis ◽  
Gregory Kaltsas
Keyword(s):  
Parathyroid Carcinoma ◽  
Late Onset ◽  
Tumor Biology ◽  
Elevated Serum ◽  
Specific Treatment ◽  
Distant Metastases ◽  
List Type ◽  
Parathyroid Cancer ◽  
Laboratory Findings ◽  
The Right

Summary Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment. Learning points: Metastases can develop many years after parathyroid cancer diagnosis. Surgery is the only curative treatment for parathyroid carcinoma. Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment. Patient registering is required in order to delineate underlining pathology and offer specific treatment.

scholarly journals Acute Eosinophilic Ascites in a Middle-Aged Man

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Fadi Bleibel ◽  
Keith Fragoza ◽  
Garrey T. Faller
Keyword(s):  
Oral Prednisone ◽  
Elevated Serum ◽  
Muscularis Propria ◽  
Rare Condition ◽  
Normal Liver ◽  
Subsequent Treatment ◽  
Eosinophilic Infiltration ◽  
Parasitic Infections ◽  
Diffuse Abdominal Pain ◽  
Gi Symptoms

Eosinophilic gastroenteritis is a rare condition characterized by recurrent eosinophilic infiltration of portions of the GI tract and presenting with nonspecific GI symptoms in association with peripheral eosinophilia. Its etiology and pathogenesis remain unclear and its symptoms overlap with many GI and systemic diseases. Thus, both gastroenterologists and general internists need to be aware of this rare condition. We present a case of a 55-year-old male with diffuse abdominal pain and distention for two weeks. His physical examination was significant for moderate ascites. Initial work-up demonstrated severe peripheral blood eosinophilia, normal liver function tests, thickening of the stomach and small bowel wall, and elevated serum IgE. Upper endoscopy and extensive testing for malignancy and parasitic infections failed to establish a diagnosis. Ascitic fluid analysis showed significant eosinophilia. Further, a full-thickness jejunal showed marked eosinophilic infiltration of the serosa and muscularis propria. Subsequent treatment with oral prednisone resulted in normalization of laboratory and radiologic abnormalities in a few week period.

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