De Sanctis-Cacchione Syndrome in a female infant - Case report

Abstract

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.

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

“…They range from mild to severe, with intellectual disability, deafness, spasticity, and seizures [ 23 ]. The most severe form of neurologic alterations is known as De Sanctis–Cacchione syndrome: including classical XP manifestations plus hyporeflexia or areflexia, microcephaly, low IQ, progressive mental deterioration, athetosis, ataxia, spasticity, dwarfism, and hypogonadism [ 24 , 25 ]. Shortening of the Achilles tendon may lead to quadriparesis [ 3 ].…”

De Sanctis–Cacchione syndrome: A case report and literature review

“…It is recognized by the typical XP skin changes accompanied by progressive neurologic degeneration, a short stature, and delayed gonadal maturation. The presence of progressive neurologic involvement and age at symptom onset correlate with the degree of DNA repair impairment ( Caldas and Rodrigues, 2013 , Hessel et al, 1992 ). The median life span of patients with neurologic deterioration is shorter than those without neurological degeneration (29 versus 37 years) ( Bradford et al, 2011 , DiGiovanna and Kraemer, 2012 ).…”