scholarly journals Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis

2015 ◽  
Vol 22 (2) ◽  
pp. 53-57
Author(s):  
Ahmed H. Abduljabbar
Keyword(s):  
Brain Imaging ◽  
Autosomal Recessive ◽  
Joubert Syndrome ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Resonance Imaging ◽  
Truncal Ataxia ◽  
Bat Wing ◽  
The Brain ◽  
4Th Ventricle

Joubert syndrome is a rare disorder inherited as an autosomal recessive trait. It has distinctive clinical features and specific brain imaging fi ndings on magnetic resonance imaging. Patients present clinically with hyperpnea, apnea, ocular abnormalities, developmental delay and truncal ataxia. In this case report, we illustrate a patient with Joubert syndrome and chronic renal failure. Magmetic resonance imaging examination revealed the characteristic "molar tooth" appearance of the brain stem, "bat-wing" shaped 4th ventricle, cleft vermis and deep interpeduncular fossa consistent with the diagnosis.  

Familial megalencephaly with dilated Virchow???Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

2005 ◽  
Vol 14 (1) ◽  
pp. 31-34 ◽  
Author(s):  
Christoph H??rtel ◽  
Sandra Bachmann ◽  
Carsten B??nnemann ◽  
Peter Meinecke ◽  
J??rgen Sperner
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Autosomal Recessive ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Resonance Imaging

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

1988 ◽  
Vol 74 (3) ◽  
pp. 231-236 ◽  
Author(s):  
Makram Al-Waiz ◽  
Riad Ayesh ◽  
Stephen C. Mitchell ◽  
Jeffrey R. Idle ◽  
Robert L. Smith
Keyword(s):  
Oral Administration ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Oral Challenge ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Challenge Dose ◽  
The Third ◽  
The Family ◽  
Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

2021 ◽  
Author(s):  
Yosra Bouyacoub ◽  
Cyrine Drissi ◽  
Ichraf Kraoua ◽  
Mariem Chargui ◽  
Ibtihel Rebai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Neurologic Impairment ◽  
Tunisian Patients ◽  
Myelin Deficiency ◽  
The Brain ◽  
Genotype Correlation

AbstractHypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype–genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.

A Review on Brain Imaging Techniques for BCI Applications

2016 ◽  
pp. 39-70
Author(s):  
Saugat Bhattacharyya ◽  
Anwesha Khasnobish ◽  
Poulami Ghosh ◽  
Ankita Mazumder ◽  
D. N. Tibarewala
Keyword(s):  
Magnetic Resonance Imaging ◽  
Positron Emission Tomography ◽  
Magnetic Resonance ◽  
Brain Imaging ◽  
Near Infrared ◽  
Emission Tomography ◽  
Resonance Imaging ◽  
Functional Near Infrared Spectroscopy ◽  
Positron Emission ◽  
The Brain

Evolution has endowed human race with the most adroit brain, and to harness its potential to the fullest the concept of brain computer interface (BCI) has emerged. One of the most crucial components of BCI is the technique of brain imaging. The first approach in the field of brain imaging was to measure the electrical and magnetic activity of the brain, the techniques being known as Electroencephalography and Magnetoencephalography. Striving for furtherance, researchers came up with another alternative known as Magnetic Resonance Imaging. But it being confined to only structural imaging, the functional aspects of brain were mapped using functional magnetic resonance imaging. A similar but comparatively newer neuroimaging modality is Functional Near Infrared Spectroscopy. Transcranial Magnetic Stimulation neuro-physiological technique is based on the principle of electromagnetic induction. Based on nuclear medicine the brain imaging technologies that are widely explored in the world of BCI are Positron Emission Tomography and Single Positron Emission Tomography.

scholarly journals Tetraventricular central neurocytoma: A rare presentation with imaging.pathologic correlation

2015 ◽  
Vol 06 (04) ◽  
pp. 594-597 ◽  
Author(s):  
Akin Akakin ◽  
Baran Yilmaz ◽  
Mustafa Kemal Demir ◽  
Ozlem Yapicier ◽  
Zafer Orkun Toktas ◽  
...  
Keyword(s):  
Treatment Options ◽  
Central Neurocytoma ◽  
Surgical Removal ◽  
Resonance Imaging ◽  
Rare Presentation ◽  
The Third ◽  
Favorable Prognosis ◽  
Atypical Features ◽  
The Brain ◽  
4Th Ventricle

ABSTRACTCentral neurocytoma (CN) is a benign intraventricular neuronal tumor with a favorable prognosis. It accounts approximately 0.25–0.5% of intracranial tumors. In this report, we describe a very rare case of tetraventricular CN with imaging-pathologic correlation, and discuss their atypical features in a location together with treatment options. A 27-year-old man was admitted to the hospital with symptoms of progressive headaches of several months' duration. Magnetic resonance imaging of the brain revealed a well-circumscribed, lobulated intraventricular mass with numerous intratumoral cystlike areas. The mass was located in the enlarged lateral ventricles bilaterally extending to the third and the fourth ventricle. Surgical removal of the 4th ventricle component of the tumor was performed. Histomorphological and immunohistochemical findings of the tumor were consistent with CN. After pathological diagnosis, gamma knife surgery was performed. CN may present with atypical features in a location with a usual histopathological findings. To our knowledge, we described the third case of tetraventricular CN, which was partially treated with both surgical resection and radiosurgery.

scholarly journals Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

1975 ◽  
Vol 141 (6) ◽  
pp. 1464-1469 ◽  
Author(s):  
N K Day ◽  
R L'Esperance ◽  
R A Good ◽  
A F Michael ◽  
J A Hansen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Systemic Lupus ◽  
Genetic Studies ◽  
Large Pedigree ◽  
Deficient Patient ◽  
Heterozygous Carriers ◽  
C2 Deficiency

Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates that some genetic factors involved in the control of the complement (C) system in both man and mice are governed by genes localized within the major histocompatibility regionmthis study describes a large pedigree of the paternal family of a C2-deficient patient with systemic lupus erythematosusl It is shown that this condition is transmitted as an autosomal recessive trait, the heterozygous carriers having approximately half normal levels of C2. Furthermore, this trait was shown to be inherited in close linkage with an infrequent HL-A typw, 2,4A2. The maternal, C2-defective chromosome was shown to be transmitted by HL-AW10, W18 haplotypemthis same haplotype was described in a similar study by Fu et al. (6) to be associated with C2 deficiencymfinally, a third haplotype HL-A2,W18 carrying a defective C2 gene was demonstrated in a part of this pedigree.

Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred

1966 ◽  
Vol 3 (2) ◽  
pp. 181-185 ◽  
Author(s):  
Eberhard Passarge ◽  
C. Thomas Nuzum ◽  
William K. Schubert
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Anhidrotic Ectodermal Dysplasia
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