A Child with Delay and Coarse Facies BOO

A Child with Delay and Coarse Facies BOO ALI Hospital F. Ahmadabadi Child neurologist

Review of systems &Physical Examinations 1. 2. 3. 4. 5. 6. 7. 8. Coarse Facies Hypotonicity Frontal Bossing Hypertelorism Hepatosplenomegaly Hyper pigmentation (Skin) Cherry red spot Normal DTR 9. 10. 11. 12. 13. 14. Normal Cornea Mongolian spot Motor Regression No Fix & Follow Consanguineous marriage Wide fontanel q HC: 47. 5 cm q Liver: 7 cm q Spleen 4 cm

Organomegaly Coarse Facies

Hyper pigmentation & Mongolian spot

Comparison of Normal Retina and a. GM 1 case

Differential Diagnosis of Cherry red spot q Sialidosis (Type. I) + Organomegaly q Farber q GM 1 GM 2(Sandhoff) Cherry Red spot + Coarse q facies + Organomegaly q GM 2 q Niemann-pick disease q MLD q Gaucher (neuronopathic) q GM 1 q Niemann-pick disease(type I) q Galactosialidosis q Gaucher (neuronopathic) q Galactosialidosis

Brain MRI

Lab Tests

GM 1 Gangliosidosis Infantile GM 1 Late infantile(Juvenile) Adult form

GM 1 Gangliosidosis(infantile) • Gm 1 is not a rare condition • Infantile type was known as Pseudo Hurler. • Defect in Beta Galactosidase. • Clinical manifestation: Poor sucking Hypo tonicity Frontal bossing Macroglosssia Melanoide hyperpigmentation (25%) Organomegaly after 6 month Lowset ear Cherry red spot (50% of cases) Skeletal Deformities

GM 1 Gangliosidosis(Juvenile) • • Symptoms manifest after 1 year of age. Hyperechosis Seizure(50% of cases) Myoclonic Slowly progression of mental deterioration • Neither bony abnormality nor Organomegaly • Optic atrophy without Cherry Red Spot

GM 1 Gangliosidosis(adult form) • Progressive intellectual deterioration • Symptoms after 6 year of age • Ataxia-Abnormal movement • Dystonia-Progressive Athetosis without dementia. • Storage material localized in Caudate and lenticular nuclei.

GM 1 Confirmed

Plan 1. Control of seizure 2. Check of Noraminidase in this patient 3. Enzyme assay on Fibroblasts culture from amniotic fluid.