TABLE 3.

Clinical Manifestations Reported in Different LSDs in the Neonate

Disease	Hypotonia	Irritability	Developmental Delay	Seizures	Movement Disorder	Hyperreflexia	Hydrocephalus	Corneal Clouding	Cherry- Red Spot	Hepatospleno- megaly	Anemia/ Low Platelets	CAH
Pompe disease	X
Gaucher type 2 disease		X					X			X	X
Krabbe disease	X	X	X	X
I-cell disease	X		X	X		X		X		X
IOSE	X			X
Prosaposin deficiency				X	X					X
Multiple sulfatase deficiency							X			X
Sialidosis							X	X		X	X	X
MPS VII							X			X
Niemann-Pick type B disease	X
Niemann-Pick type C2 disease	X						X			X
Farber disease
Galactosialidosis									X	X	X	X
Fabry disease
Sandhoff disease
GM1 disease	X
ISSD										X
Schindler disease
Wolman disease										X
Niemann-Pick type A disease

	Cardiomegaly	Cardiomyopathy	Respiratory Distress	Macroglossia	Hoarseness	Dysmorphic Features	Osteopenia	Joint Contractures	Dysostosis Multiplex	Craniosynostosis	Ichthyosis
Pompe disease	X	X	X	X		X
Gaucher type 2 disease		X				X		X			X
Krabbe disease
I-cell disease		X				X	X		X	X
IOSE
Prosaposin deficiency
Multiple sulfatase deficiency						X					X
Sialidosis		X	X
MPS VII						X
Niemann-Pick type B disease
Niemann-Pick type C2 disease			X
Farber disease					X
Galactosialidosis		X				X			X
Fabry disease		X
Sandhoff disease		X
GM1 disease		X
ISSD						X			X
Schindler disease		X
Wolman disease
Niemann-Pick type A disease		X

CAH indicates congenital adrenal hyperplasia; IOSE, infantile-onset symptomatic epilepsy.