Zahida Rant, Tariq Rashid, Ijaz Hussain, Lamees Mahmood Malik.
A 7-year girl with photosensitivity and neurological abnormalities. Cockayne`s Syndrome or De Sanctis-Cacchione Syndrome? A Diagnostic Dilemma, Case Report and review of literature.
J Pak Assoc Derma Jan ;12(4):206-10.

A 7-year-old girl presented to the outpatient clinic of Dermatology Department, Mayo Hospital, Lahore with photosensitivity and hyperpigmented macular lesions particularly over face and back of hands. She was normal at the time of birth but during her first month of life she developed recurrent erythematous, eczematous, and scaly eruption over her face after sun exposure. Her complexion also darkened gradually. As she grew, her skin became dry and multiple hyperpigmented macules appeared over her face and back of hands. All the mile stones of growth were delayed in spite of good dietary intake. She started walking at the age of 6, was not toilet-trained, and could only talk and recognize her family members. However, there were no complaints of seizures and visual or hearing defects. One previous sibling had similar skin lesions and died at the age of 2.6 years due to unknown cause. Our patient weighed 9.2 kg, her height was 89 cm and had a head circumference of 43.4 cm. She was found to be dwarf and microcephalic as per reference standards and had bird-like facies. However, limbs were not proportionately long as compared to the trunk. The neurological examination revealed delayed milestones and delayed physical growth. She had good comprehension and cooperation but her motor speech was minimal. Motor system examination showed brisk reflexes particularly in lower limbs. Plantar reflexes were normal. She had a broad-based gait with mild spasticity especially on left along with left arm ataxia and left-sided incoordination. However, there was no nystagmus or choreoathetosis. These signs were suggestive of cerebellar ataxia. Her vision and hearing along with audiometry were normal. Fundoscopy was unremarkable. Assessment by the child psychiatrist showed delayed milestones of development. Her mental age was 1-2 years on portage guide. Her IQ was 30%. Cutaneous examination revealed hyperpigmented macules on face, ears and back of hands. There were no telangiectatic, vesiculobullous, eczematous, or ichthyotic lesions. Similarly, there were no cutaneous lesions suggestive of malignant transformation. Hair, nails and mucous membranes were normal. Rest of the physical examination was unremarkable. Her blood counts, urine examination, blood urea nitrogen, serum creatinine, serum calcium, and liver function tests were normal. EEG and CT scan without contrast were also inconclusive. Continued …

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