Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic

• Published in: Eye (London) Vol. 22; no. 2; pp. 273 - 281
• Main Authors: Goyal, R, Thompson, D, Timms, C, Wilson, L C, Russell-Eggitt, I
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01-02-2008; Nature Publishing Group
• Subjects: Abnormalities, Multiple - diagnosis; Biological and medical sciences; Cataract - congenital; Cataract - diagnosis; Cataract - pathology; Cataract Extraction; clinical-study; Cockayne Syndrome - diagnosis; Fatal Outcome; Female; Humans; Infant; Infant, Newborn; Laboratory Medicine; Lens diseases; Male; Malformations of the nervous system; Medical sciences; Medicine; Medicine & Public Health; Microcephaly - diagnosis; Miscellaneous; Neurology; Ophthalmology; Pharmaceutical Sciences/Technology; Retrospective Studies; Surgery; Surgical Oncology; Syndrome; infantile cataract; microcephaly; Cockayne syndrome; congenital cataract; Micro syndrome; Skin disease; Diseases of the osteoarticular system; Bilateral; Review; Microcephaly; ENT disease; Ophthalmology; Complex syndrome; Child; Human; Nervous system diseases; Cataract; Congenital; Congenital disease; Genetic disease; Cerebral disorder; Eye disease; Lens disease; Malformation; Central nervous system disease; Anterior segment disease
• ISSN: 0950-222X; 1476-5454
• DOI: 10.1038/sj.eye.6702958

Purpose
We reviewed all children presenting with microcephaly and bilateral congenital cataract in our paediatric cataract clinic, to identify their underlying diagnosis and clinical features that could help in early diagnosis of such conditions.
Methods
We screened our cataract database to collect data on all children presenting to our institute with cataract before 1 year of age for a period of 5 years (1997–2001) inclusive. We found 166 cases of cataract, of which 85 were bilateral. Of the 85 children with bilateral cataract, five also had microcephaly. The case notes of these five children were retrospectively reviewed for age at presentation, ocular and systemic examination findings, results of electro diagnostic testing, outcome of cataract surgery, and any additional investigation results.
Results
In our series, three children were diagnosed with early-onset Cockayne syndrome (CS2), one was diagnosed with Micro syndrome and one with Hallermann–Streiff syndrome. Electrodiagnostic testing was abnormal in four of the five cases, and growth failure was present in all five. There was a good outcome from surgery in the three children with CS2 and the child with Hallermann–Strieff. There was a poor outcome in the child with Micro syndrome.
Conclusions
The presence of microcephaly in children presenting with bilateral cataracts in infancy is strongly suggestive of a syndromic cause. Early-onset Cockayne syndrome was the commonest underlying diagnosis in our series, but clinicians should be aware of other possibilities, and we discuss the differential diagnosis. Head circumference should be checked routinely in children with congenital cataract.