Consequences of delayed diagnosis in treatment of retinoblastoma

One of the primary factors in managing patients with retinoblastoma is early diagnosis. The main idea of this study was to recognize the consequences of delay in diagnosis on therapy of the disease. A retrospective review of all children with proven retinoblastoma, who had presented to MAHAK hospital in Tehran, from April 2007 to Dec 2011, was performed. Grouping of intraocular tumors was applied as A to E according to International Classification of Retinoblastoma. There were 157 [91 boys] children eligible for study. The mean age was 1.21 +/- 0.11 years with average delay in diagnosis of 3.4 +/- 0.53 months. Classification of D group in both unilateral [93 patients] and bilateral tumors was the largest category. A significant relation [P=0.05] between delayed diagnosis time and tumor grouping was evident. The most frequent symptoms were leukocoria and strabismus. Age was significantly lower in the subgroup of bilateral tumors than in unilateral retinoblastomas [0.6 +/- 0.12 year vs 1.6 +/- 0.15 years]. The diagnosis was delayed in subgroup of extra ocular retinoblastoma more than in intraocular tumors [8.7 +/- 2.9 months vs 2.9 +/- 0.52 months]. The authors recommend early referring of suspected cases to ophthalmologists and pediatric oncologists and to organize educational programs to publisize signs and symptoms of the disease such as leukocoria, strabismus and ocular inflammatory disorders through national media. In conclusion, early diagnosis of retinoblastoma can be the primary factor in managing the patients as the delay in diagnosis accounts for highly advanced disease and poor prognosis

[Early Manifestation of Ghosal-Type Hemato-Diaphyseal]

Ghosal-type hemato-diaphyseal dysplasia is a rare autosomal recessive disorder with distinctive diaphyseal and metaphyseal dysplasia of long bones and steroid-dependant anemia. The authors describe a 20-month-old girl who had had a severe transfusion-dependent anemia since late infancy and marked locomotion difficulties as a toddler. The diagnosis was established by X-ray bone survey. The anemia was treated with oral prednisolone. Since then, the patient has been doing well on steroid-maintenance therapy and has no more walking difficulties. The incidence of hemato-diaphyseal dysplasia in the Indian subcontinent and Middle East is notable