scholarly journals Description of Two NewABCB11Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family

2011 ◽  
Vol 25 (6) ◽  
pp. 311-314 ◽  
Author(s):  
Yannick Beauséjour ◽  
Fernando Alvarez ◽  
Martin Beaulieu ◽  
Marc Bilodeau
Keyword(s):  
Intrahepatic Cholestasis ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Present Report ◽  
Genetic Diagnosis ◽  
Rare Clinical Entity ◽  
French Canadian ◽  
Genetic Characteristics ◽  
Benign Recurrent Intrahepatic Cholestasis

Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of theABCB11gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.

scholarly journals Asterixis and dysarthria-clumsy hand originated of lacunar infarction: A series of six cases

2022 ◽  
Vol 30 (3) ◽  
pp. 87-94
Author(s):  
Juan Montalvo-Herdoíza ◽  
Daiane Bittencourt-Fraga ◽  
Gilberto Vizcaíno ◽  
Aline Siteneski
Keyword(s):  
Type 2 Diabetes ◽  
Movement Disorders ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Recurrent Stroke ◽  
Lacunar Infarction ◽  
Motor Symptoms ◽  
Neurological Signs

Asterixis and dysarthria-clumsy hand are uncommon neurological signs following to movement disorders after a stroke, clinically are classified as a part of lacunar infarction and most of the cases resolved spontaneously within ten days to one month. The aim of this study was to describe the clinical characteristics of six patients with lacunar infarction and mild motor symptoms of dysarthria and asterixis with no signs of dementia. All patients had as comorbidities hypertension and/or type 2 diabetes. In conclusion, it is important due to the transience of the abnormal neurological movements, the promptly recognition of the characteristic clinical presentation and confirmation of the diagnosis with noninvasive studies. The patients should be treated to prevent recurrent stroke with more severe consequences.

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

2004 ◽  
Vol 127 (2) ◽  
pp. 379-384 ◽  
Author(s):  
Saskia W.C. van Mil ◽  
Wendy L. van der Woerd ◽  
Gerda van der Brugge ◽  
Ekkehard Sturm ◽  
Peter L.M. Jansen ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening

2020 ◽  
Vol 183 (6) ◽  
pp. 627-636 ◽  
Author(s):  
J C Naafs ◽  
P H Verkerk ◽  
E Fliers ◽  
A S P van Trotsenburg ◽  
N Zwaveling-Soonawala
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Clinical Characteristics ◽  
Screening Program ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Pituitary Hormone ◽  
Cross Sectional ◽  
Genetic Characteristics ◽  
Dutch Children

Objective To evaluate clinical characteristics of patients with central congenital hypothyroidism (CH), detected in the Dutch neonatal screening program. This included patients with isolated central CH but the majority have multiple pituitary hormone deficiencies (MPHD). Design Nationwide, cross-sectional study. Methods Data was collected on clinical characteristics, endocrine tests and neuroimaging of central CH patients, detected by the Dutch neonatal screening and born between 1 January 1995 and 1 January 2015. Height and pubertal status were assessed during a study visit. Isolated central CH patients without a confirmed genetic diagnosis were offered genetic (re-)testing. Results During the 20-year period 154 central CH patients were detected (incidence of permanent central CH 1:25 642). After excluding deceased (15), severe syndromic (7) and transient patients (6), 92 of 126 eligible patients were included (57 MPHD; 79% male). Sixty-one patients (50 MPHD) had been hospitalized before screening results were reported, but central CH was diagnosed on clinical grounds in only three of them (5%). MRI abnormalities consistent with pituitary stalk interruption syndrome were seen in 50 (93%) MPHD patients. Among isolated central CH patients, 27 (84%) had an IGSF1, TBL1X or IRS4 gene variant (53, 16 and 16%, respectively). Conclusion Many patients with central CH have neonatal health problems, especially MPHD patients. Despite hospital admission of two-thirds of patients, almost none were diagnosed clinically, but only after the notification of an abnormal screening result was received. This indicates that central CH, especially if isolated, is an easily missed clinical diagnosis.

scholarly journals Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

2019 ◽  
Vol 22 (2) ◽  
pp. 201
Author(s):  
Min Ji Sohn ◽  
Min Hyung Woo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Gyeong Hoon Kang ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

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