Differentials
Isolated hypotonia
SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS
Hypotonia during infancy but no associated dysmorphic features or congenital defects.
INVESTIGATIONS
Normal karyotype.
Zellweger syndrome
SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS
Peroxisomal disorder with hypotonia, flat occiput and face, epicanthal folds, Brushfield spots, cataracts, single palmar crease, seizures.
Difficult to distinguish clinically.
INVESTIGATIONS
Elevated very long chain fatty acids in plasma.
Normal karyotype.
Congenital hypothyroidism
SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS
Poor feeding, poor growth, hypotonia, constipation, dry skin, fatigue.
INVESTIGATIONS
Normal karyotype.
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