Mazhar Ishaq, Hannan Masud.
Congenital Glaucoma and Penetrating Keratoplasty Failure in De Sanctis – CaCchione Syndrome.
J Coll Physicians Surg Pak Jan ;11(10):663-6.

De Sanctis-Cacchione Syndrome is an extremely rare disorder inherited as an autosomal recessive genetic trait and characterised by xeroderma pigmentosum, mental retardation, dwarfism and hypogonadism. We report two cases of De Sanctis-Cacchione syndrome, one with congenital glaucoma which is being reported in literature for the first time and the second with penetrating keratoplasty failure. Management of De Sanctis-Cacchione syndrome is difficult and requires multidisciplinary approach. Ophthalmologists are advised to check intraocular pressure of all the patients diagnosed as De Sanctis - Cacchione syndrome to avoid potential blindness due to glaucoma.

A boy of 6.5 years reported with decreased vision in both eyes, freckle-like lesions on the face and body as well as growth retardation since birth. He had developed severe photophobia for the last 3.5 months. There was family history of consanguinity. His younger sister, 4 years of age, was also suffering from similar complaints. General physical examination showed that he was a symmetrical dwarf, microcephalic and underweight. His vital signs were stable. Systemic examination showed delayed milestones (mental retardation), freckle-like lesions on face and body that were diagnostic of xeroderma pigmentosum, (Figure 1) and gonadal hypoplasia.

Developmental examination showed progressive deterioration in hearing, his mental age was 2 years and motor age 6.5 years. Ocular examination showed that he followed light in all directions of gaze. Accurate visual acuity could not be assessed because the patient was mentally retarded. Examination of the anterior segment showed corneal haze and corneal diameter of 10 mm (vertical) by 10.5 mm (horizontal) in both eyes. Anterior chamber was formed, iris was normal in structure, pupil showed sluggish reaction and lens was clear. Fundoscopy showed pale disc, which appeared fully cupped with attenuated blood vessels. Intraocular pressure was 40 mm Hg in right eye and 50 mm Hg in left.

Intraocular pressure was measured by Schiotz tonometer under general anaesthesia and all the finding were reconfirmed. Investigations were within normal limits. On the basis of clinical findings of xeroderma pigmentosum, mental retardation, hypogonadism and dwarfism, he was diagnosed to be a case of De Sanctis-Cacchione syndrome with congenital glaucoma (bilateral). A trial of topical beta-blocker eye drops was given for two weeks to bring intraocular pressure under control but the response was inadequate. Considering the visual status of the patient, advanced glaucomatous optic disc changes and poor visual prognosis, surgical treatment was withheld initially. Trabeculectomy was tried in some other center but the initial results were discouraging and intraocular pressure remained high. Parents were advised to keep child away from direct exposure to sunlight, use sunglasses and sunscreens before going outdoors. Regular follow up was advised at three month intervals with thorough ophthalmic, pediatric and dermatological evaluation to detect as well as manage the complications of the disease

CASE Two: A boy 13 years of age had corneal opacity in both eyes, freckle-like lesions on the face and body along with growth retardation since birth. Corneal transplantation was done twice in his left eye 1.5 years ago but transplanted cornea opacified within 2 months of operation. There was family history of consanguinity and his younger brother was also suffering from similar complaints. General physical examination showed that he was a dwarf, microcephalic and underweight.

His vital signs were stable. Systemic examination showed delayed milestones (mental retardation), freckle-like lesions on face and body that were diagnostic of xeroderma pigmentosum and gonadal hypoplasia, Ocular examination showed that he had perception of light and photophobia. Accurate visual acuity could not be measured because the patient was mentally retarded. Examination of the anterior segment showed bilateral corneal opacity with failure of penetrating keratoplasty in left eye. Posterior intraocular structures were not visible. Intraocular pressure was 16 mm Hg in both eyes. Investigations were within normal limits. On the basis of clinical findings of xeroderma pigmentosum, mental retardation, hypogonadism and dwarfism, he was diagnosed to be a case of De Sanctis-Cacchione syndrome with penetrating keratoplasty failure in left eye.

The patient was advised penetrating keratoplasty in right eye but he declined. The patient and his younger brother were given tear substitutes, advised to avoid exposure to sunlight and use sunglasses along with sunscreens when going outdoors. Regular follow-up was carried out at three-month intervals with thorough ophthalmic, pediatric and dermatological evaluation to detect as well as manage the complications of the disease.

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