*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

Abstract

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.