Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

Table 1

Comparison of clinical manifestations present in our patient and the syndromes XP and XP with neurological manifestations, De Sanctis–Cacchione syndrome, CS, and XP/CS complex [5, 15, 27, 30].

	Characteristics	Patient	XP	XP with neurologic changes	De Sanctis–Cacchione syndrome	CS	XP/CS complex
System
Skin	Malignant and premalignant lesions	X	X	X	X		X
	Photosensitivity	X	X	X	X	X	X
Ocular	Pigmentary degeneration of retina					X	X
Growth	Dwarfism	X			X	X	X
	Hypogonadism				X	X	X
Neurological	Microcephaly	X			X	X	X
	Mental retardation	X		X	X	X	X
	Ataxia	X			X	X	X
	Deafness			X	X	X	X
	Spasticity			X		X	X
	Seizures			X		X
	Hyporeflexia or areflexia			X	X		X
	Hyperreflexia	X				X	X
	Pes cavus	X
Other	Speech disability	X		X		X
Radiology	Cerebral atrophy	X		X	X
	Basal ganglia calcification					X	X
	Normal-pressure hydrocephalus					X	X
Inheritance		AR	AR	AR	AR	AR	AR
Molecular defect		XP-C	XP-A, XP-B, XP-C, XP-D, XP-E, XP-F, XP-G, variant	XP-A, XP-B, XP-D, XP-F	XP-A, XP-D, CS-B	CS-A, CS-B	XP-B, XP-D, XP-G