We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome.
Keywords: Xeroderma Pigmentosum-Cockayne Syndrome complex (XP-CS), Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS)
Clinically, the patients have a marked susceptibility to acute sunburns after minimum exposure, facial freckling, increased risk of skin cancer and pigmentary changes that are characteristic of XP.4 The neurological and somatic features are CS-like3 and include growth failure, intellectual disability, delayed development, sensorineural hearing deficit, progeria, failure to thrive, and severe cachexia characterized by deep-set eyes.4 The neuroimaging reveals brain atrophy, ventriculomegaly, tigroid demyelination and microcephaly, findings also characteristic of CS.1,4 Here, we report a case of a 3-year-old girl presenting with clinical features strongly suggestive of XP-CS complex.
The absence of the characteristic facial rash also excluded RTS as the diagnosis.10 The hallmark radiological findings in XP-CS patients include intracranial calcifications, brain atrophy and tigroid demyelination; two of these are present in the index case.
Delayed development is also a hallmark feature in XP-CS patients.
Literature highlighted the occurrence of XP-CS in three brothers in Pakistan, showing that it may cluster in families and the diagnosis here was also established using clinical background only.14 The treatment of XP-CS is mainly symptomatic and supportive.