ICNC Abstracts, ICNC 2018

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Neurometabolic profile of macrocephaly in infancy and childhood, Biochemical and molecular study
Lobna Abdelgawad Mansour, Ekram Mohamed Fateen, Mohamed Ahmed Rashed, Ezzat Mohamed Elsobky, Solaf Mohamed Mohamed, Lamia Tarek Tawfik

Last modified: 2018-09-09


*Lobna Mansour (MD), ***Ekram Fateen (MD), ***Mohamed Rashed (MD)  #Ezzat Elsobky (MD) #Solaf Mohamed (MD) **Lamia Tarek (Msc)

Cairo University: * Neuropediatric unit pediatric dep**Clinical and chemical dep.

National research center  ***Biochemical genetic unit

Ainshams University  #Genetic unit pediatric dep.

Speaker Lobna Mansour





Objective:  highlight clinical, neuroimaging of macrocephaly their biochemical and molecular workup for early diagnosis and management


Methods Ninety cases with macrocephaly excluding hydrocephalus( 6 months -10years)   subjected to  MRI  , urine organic acid  and TMS/MS(59) ,abdominal US (23  ),hexoseaminidase A,B (20 ),Arylsulfatase (14),b galactosidase  (4) , VLCFA  (7),skeletal survey (8), MRS(9) and molecular diagnosis  Canavan (6), GM1(1) and prenatal D(3).


Results :Canavan (20 ),  Gangliosidosis( 20  :

TaySach 15 ,Sandhoff :1 , GM1: 4  ) , Vanishing white matter ( 3)  , Zellweger S( 7) with dysmorphic features, hypotonia  , defective vision  . Glutaric aciduria 1 (15) :  with episodic or progressive deterioration .Megalencephalic leukoencephalopathy  with subcortical cysts (6 ) :  milder clinically .Benign subdural effusion( 5),benign familial macrocephaly &Trenaunay Weber( 2 each)  and malformations of cortical development (3 ),Jubert S(3). Possibile Alexander  (4)Molecular diagnosis confirmed Canavan ( 6  ) GM1 (1) , prenatal diagnosis :normal  fetus  one ,affected two.


Conclusion: Gangliosidosis and Canavan were the commonest with steady deterioration, followed by glutaric  aciduria  1 .MRI is   helpful in  Leukodystrophy, MCD .Enyme activity for  gangliosidosis  urine  organic acid  for  Canavan and Glutaric aciduria  1 and  screening of siblings..Molecular diagnosis for confirmation prenatal diagnosis.



leukodystrophy ,Weber Trenaunay , Canavan disease

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