The Ophthalmology Department,  Universiti Malaysia Sarawak (UNIMAS), Kuching, Sarawak.

The Ophthalmology Department, Sarawak General Hospital, Kuching, Sarawak, East Malaysia.

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Case 35

by Dr. Ngo Chek Tung, Dr. Mahadhir Alhady & Professor Chua Chung Nen

 

 

A 3-year-old girl with dysmorphic features was referred to the ophthalmology unit because her mother noticed a right leukocoria which had been present for 2 months. There was no history of retinoblastoma in the family. She was diagnosed with Cornealia de Lange’s syndrome based on her facial features:  prominent eyebrows, anteverted nostrils, long philtrum, thin lips, and hirsutism. She was noted to have mental retardation however there was no growth problem or any skeletal anomalies seen.

Figure 1 a and b. Dysmorphic features seen from the front and side.

 

CT scan showed calcification and a mass which was confined to the globe. Examination of the right eye under general anaesthesia revealed a large white mass measuring 1.5 cm in its widest diameter located in the macula. The features were consistent with retinoblastoma. The left eye was normal. Lumbar puncture and bone marrow biopsy showed no evidence of tumour spread. Enucleation was performed. Histology showed the tumour was confined to the retina and the cut end of the optic nerve was clear.

 

She recovered well post-operatively underwent regular orbital and brain MRI scans for any recurrence. She remained disease free at one year review.  Her chromosomal analysis revealed chromosome 13q deletion involving band 14 (Figure 3 and 4).

 

 

Figure 2. Karyotypes showing46, XX, del(13)(q14.2q31).

 

Figure 3. Close-up view of the deleted chromosome 13.

 

a. What is Cornelia de Lange's syndrome?

 

 

b. What are the dysmorphic features of chromosome 13Q deletion?