Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin

2018 ◽  
Vol 176 (12) ◽  
pp. 2850-2857 ◽  
Author(s):  
Ameera Balobaid ◽  
Tawfeg Ben-Omran ◽  
Khushnooda Ramzan ◽  
Ruqaiah Altassan ◽  
Mariam Almureikhi ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Middle Eastern ◽  
Phenotypic Spectrum

Broad phenotypic spectrum of FLNA-associated disorders resulting in brain malformation, epilepsy, mental retardation and stroke

2007 ◽  
Vol 34 (S 2) ◽  
Author(s):  
G Uyanik ◽  
A Hehr ◽  
G Schuierer ◽  
A Bohring ◽  
S Spranger ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Brain Malformation ◽  
Phenotypic Spectrum

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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