Indian Pediatrics 1999; 36:313-315
Osteoporosis pseudoglioma syndrome (Synonymous Pseudoglioma with bone fragility) is a rare autosomal recessive disorder characterized by severe juvenile onset osteoporosis, congenital or juvenile onset blindness(1) due to pseudogliomatous retinal detachment causing pthisis bulbi, multiple fractures from minor accidents and mild mental retardation(2). We profile one such case who presented with multiple fractures and blindness. This is the first such case from India.
An 1 I -year-old boy, born of third degree consanguineous marriage presented with bony deformities and blindness. The mother was unregistered antenatally. The patient was a full term hospital delivery and the child cried immediately after birth. There was no documentation of birth weight and Apgar score. The postnatal period was uneventful. He had history of blindness and white reflex in both eyes since birth for which he was first investigated at 3 months of age. CT Scan of the orbit had shown bilateral lobulated soft tissue masses with no retrobulbar or extrabulbar infiltration suggestive of bilateral retinoblastoma. However, surgery was not performed. At 5 years of age, the patient was re-examined by an Ophthalmologist and diagnosed as having complete blindness with phthisis bulbi. At 9 years of age he developed anterior bowing of legs and multiple fractures for which the patient required frequent immobilization.
On examination at presentation, the patient's height was 124 cm which was 5th percentile for that age. Weight was 14.5 kg which was less than 5th percentile for that age. Head circumference was 46.5 cm which was less than 2 standard deviations. These parameters correspond to generalized failure to thrive and microcephaly. The motor milestones were normal but the patient was unableto run because of his deformities. Mental DQ was assessed as 28. The patient had anterior bowing of tibiae bilaterally, anteromedial bowing of the right humerus, kyphoscoliosis and talipes equinovarus. The right shoulder was "frozen". There was bilateral phthisis bulbi. Both motor and mental milestones were delayed. X-rays showed marked generalized osteopenia with porotic appearances, bowing of radius, ulna, tibia and wavy bowing of the fibula (Fig.1). Old healed multiple fractures were seen. These findings were suggestive of osteogenesis imperfecta. As the patient had associated blindness, a diagnosis of osteoporosis pseudoglioma syndrome was made.
Osteoporosis-pseudo glioma syndrome is a rare autosomal recessive disorder often seen with parental consanguinity(3). Only "thirty eight patients have been reported in the literature so far( 4). The first case was reported in 1969 by Bianchine and Murdoch in a boy with osteoporosis in whom both eyes had been enucleated in infancy for pseudoglioma.Children with this syndrome present with blindness in infancy(5) probably due to "pseudogliomatous" retinal detachment or from fetal uveitis resulting in microptbalmia, phthisis bulbi, corneal opacity and cataracts.They also have osteoporosis and spontaneous fractures resulting in deformities. Other features like short stature, microcephaly, ligamental laxity and mental retardation are also seen(2). Clinical and radiological variability is seen frequently(6).
Radiologically there is osteoporosis, thin cortices, coarse trabecular structure of long bones, fractures, bowing of tubular bones and expanded, lucent metaphyses. These changes are indistinguishable from those of osteogenesis imperfecta(7).
Clinical, biochemical and) microscopic analyses suggest that osteoporosis pseudoglioma syndrome may be a disorder of matrix homeostasis rather than a disorder of matrix structure( 1).
Homozygosity mapping has assigned the region of osteoporosis pseudoglioma syndrome locus to chromosome 11q 12-13(1).
Our patient had classical picture ofosteoporosis psuedoglioma syndrome - severe osteoporosis and blindness with mental retardation and had been mistakenly diagnosed as retinoblastoma. Having survived 11 years after the first diagnosis, it is now clear that the patient had pseudoglioma - classical of this syndrome. The treatment for this condition remains supportive.
The authors are grateful to the Dean,
Dr. (Mrs.) P.M. Pai for granting permission topublish this case.