Ophthalmic and Systemic Findings Associated With Cases of Arthrogryposis Multiplex Congenita

Abstract

Abstract: : Purpose: To report unusual ophthalmic and systemic features in two cases of arthrogryposis multiplex congenita ,which have never been described before. Methods: We performed a detailed clinical examination including complete ophthalmic assessment .A multidisciplinary assessment was performed including orthopaedics, paediatrics, orthoptics, , haematology ,neurology and otolaryngology review. Results: Case 1 : A full term birth with arthrogryposis multiplex congenita and congenital pneumonia.Ophthalmic abnormalities included cataracts, divergent squint, intermittent nystagmus, unsteady fixation, restricted upgaze bilaterally, high myopia both eyes and right sided mild ptosis.Out of these there is only one reported case of congenital ptosis and two reported cases of congenital cataract described in association with arthrogryposis multiplex congenita previously. The findings never described before were divergent squint, intermittent nystagmus, unsteady fixation, delayed visual maturation, restricted upgaze bilaterally and high myopia.Systemic abnormalities included sickle cell anemia, layrngomalacia, severe gastroesophageal reflux, cleft palate and hearing loss due to otitis media. Case 2: A full term child born by a caesarean section with arthrogryposis multiplex congenita and neonatal jaundice and recurrent right upper lobe pneumonia. Ophthalmic findings suggested an unsteady fixation and delayed maturation of fixation with vertical nystagmus till the age of 12 months.Systemic abnormalities in this child included G6PD deficiency, severe gastroesophageal reflux and distal denervation of limbsConclusions: We report for the first time two cases of delayed visual maturation and fixation development in association with arthrogryposis multiplex congenita. The findings of divergent squint, intermittent nystagmus, restricted upgaze bilaterally and high myopia , have not been previously described.The presence of sickle cell anemia in the first case and G6 PD deficiency in the second case have, also not been previously described. There is no reported case of haematological abnormalities with this syndrome. These cases present a unique set of manifestations associated with arthrogryposis multiplex congenita . Are we dealing with some new syndrome? We tried to answer these questions and therefore suggest a close multidisciplinary follow up on all cases to better understand these associations.

Keywords: strabismus • eye movements • visual development