Table 1. Comparison of childhood-onset neurodegenerative conditions with neuroimaging findings similar to fucosidosis.

Features	Fucosidosis	PKAN (NBIA)	MPAN (NBIA)	GM1 gangliosidosis	Proband
Clinical features
Neuroregression	+	+	+	+	+
Pyramidal signs	+	+	+	+	+
Dystonia, dysarthria, and other extrapyramidal signs	+/− (less common)	+	+	+/− (in juvenile-onset form)	+
Seizures	+/−	−	−	+	−
Other neurological features	Peripheral neuropathy, hearing loss	−	Psychiatric disturbances, motor axonopathy	−	−
Coarse facies	+	−	−	+	+
Dysostosis multiplex	+	−	−	+	+
Other extra-neurological findings	Angiokeratoma, anhidrosis, cardiomegaly, hepatosplenomegaly, hernia	−	−	Hepatosplenomegaly, cardiomyopathy, gingival hyperplasia, hernia, angiokeratoma	−
Ocular findings	Hypertelorism, tortuosity of conjunctival vessels	Abnormal eye movements (including vertical saccades), Adie's pupil, pigmentary retinal degeneration	Optic atrophy	Corneal clouding, cherry red spot in fundus	Mild hypertelorism
Neuroimaging findings
Basal ganglia	T2-weighted hypointensity of globus pallidus with streak of hyperintensity involving medial medullary lamina in some cases, resembling “eye-of-the-tiger” sign	“Eye-of-the-tiger” sign; calcification of globus pallidus in CT scan	T2-weighted hypointensity of globus pallidus with streak of hyperintensity involving medial medullary lamina that resembles “eye-of-the-tiger” sign	T2-weighted hypointensity of globus pallidus	T2-hypointensity of globus pallidus with central streak of hyperintensity involving medial medullary lamina resembling “eye-of-the-tiger” sign
Cerebral atrophy	+/−	−	+	+	−
Cerebellar atrophy	−	−	+	+/−	−
White matter changes	+	−	−	+	+
Genetic basis
Gene	FUCA1	PANK2	C19orf12	GLB1	FUCA1

Abbreviations: MPAN, mitochondrial membrane protein-associated neurodegeneration; NBIA, neurodegeneration with brain iron accumulation; PKAN, pantothenate kinase-associated neurodegeneration.