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Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic
1Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.
Insights
Microcephaly and bilateral cataracts in infants often indicate a syndromic cause. Early-onset Cockayne syndrome was most common, highlighting the need for routine head circumference checks in infants with congenital cataracts.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Bilateral congenital cataracts and microcephaly in infants can indicate underlying genetic syndromes.
- Early diagnosis is crucial for appropriate management and genetic counseling.
Observation:
- A retrospective review of 5 infants with microcephaly and bilateral congenital cataracts was conducted.
- The study identified diagnoses including early-onset Cockayne syndrome (CS2), Micro syndrome, and Hallermann-Streiff syndrome.
Findings:
- Four out of five infants exhibited abnormal electrodiagnostic testing results.
- All five infants presented with growth failure.
- Surgical outcomes varied, with good results in CS2 and Hallermann-Streiff syndrome cases, and a poor outcome in Micro syndrome.
Implications:
- Microcephaly in infants with bilateral cataracts strongly suggests a syndromic etiology.
- Routine measurement of head circumference is recommended for infants diagnosed with congenital cataracts.
- Awareness of differential diagnoses, including early-onset Cockayne syndrome, is essential for clinicians.
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.
