A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature

2003 ◽  
Vol 162 (9) ◽  
pp. 582-588 ◽  
Author(s):  
Jörg Seidel ◽  
Anita Heller ◽  
Gabriele Senger ◽  
Heike Starke ◽  
Ilse Chudoba ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Molecular Cytogenetics ◽  
Facial Dysmorphism ◽  
Behaviour Disorder ◽  
Review Of The Literature ◽  
Translocation Event

Valproate-induced hyperammonemia in mental retardation: A case report and review of the literature

2010 ◽  
Vol 34 (3) ◽  
pp. 561-562 ◽  
Author(s):  
Chai Ling Khoo ◽  
Sandeep Naik ◽  
Regina Lua ◽  
Suet Bin Chai ◽  
Alvin Liew ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Review Of The Literature

scholarly journals An unusual case of tuberous sclerosis incidentally discovered in adulthood: case report and review of the literature

2018 ◽  
Vol 7 (12) ◽  
pp. 205846011880632
Author(s):  
Dolores Ferrara ◽  
Gianfranco Vallone ◽  
Enrico Tedeschi ◽  
Andrea Ponsiglione ◽  
Arnaldo Stanzione ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Tuberous Sclerosis ◽  
Female Patient ◽  
Unusual Case ◽  
Renal Tumor ◽  
Review Of The Literature ◽  
Multiple Lesions ◽  
Clinical Triad ◽  
The Right

Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyolipoma (AML) is the most common benign renal tumor usually found incidentally as a solitary small echogenic lesion on grayscale ultrasound. Less commonly, it is part of the TS complex and is seen as multiple lesions in both kidneys. We describe an unusual case of TS incidentally diagnosed in a 37-year-old female patient with several and bilateral renal AMLs and a single cortical–subcortical tuber in the right parieto-occipital cerebral lobe.

scholarly journals Isolated Ventricular Noncompaction Syndrome in a Nigerian Male: Case Report and Review of the Literature

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Indrani S. Bhattacharya ◽  
Marc Dweck ◽  
Andrew Gardner ◽  
Mark Jones ◽  
Mark Francis
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Cardiac Failure ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Ventricular Noncompaction ◽  
Important Differential Diagnosis

Isolated ventricular non-compaction cardiomyopathy (IVNC) is a rare, morphologically distinct primary genetic cardiomyopathy, which is now gaining prominence as an important differential diagnosis in patients presenting with cardiac failure. We describe a case report of a Nigerian male with facial dysmorphism presenting with cardiac failure. This is followed by a review of the literature with focus on the diagnosis of this condition, which may be difficult especially in non-Caucasian populations.

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