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Images in Clinical Practice

Indian Pediatrics 2006; 43:173-174

Delleman Syndrome


A one-month-old male child presented with abnormal looking left eye surrounded by skin tags, and focal alopecia. On examination left eye showed upper eyelid coloboma. epibulbar dermoid and surrounded by skin tags. Facial cleft was present on left (Fig. 1). He had left frontal and parietal focal alopecia. Overlying skin on these regions showed patches of focal dermal hypoplasia (Fig.2). Neurological examination was unremarkable. On follow-up at age 2 years, he had developed hydrocephalus with right-sided hemiparesis and mild psychomotor retardation.


Fig. 1. Left eye upper eyelid coloboma, epibulbar dermoid, skin tags.


Fig.2 Focal Apopecia with Focal dermal hypoplasia

MRI brain at age one month revealed left intracerebral cyst communicating with dilated left lateral ventricle (Fig. 3). Brain surface overlying cyst showed pachygyria (posterolateral and medial aspect of parieto-occipital region). In addition MRI showed mal-development of corpus callosum, lipoma in left basitemopral region and archanoid cyst in the left temporal lobe. Follow up MRI brain at age 2 years showed increase in the size of the cyst.


Fig. 3. MRI showing left intracerebral cyst.

Chromosomal analysis revealed normal male karyotype with no detectable abnormality.

Delleman syndrome (syn: occulo-cerebrocutaneous syndrome) is a rare sporadic syndrome characterised by orbital cysts. micropthalmia/anopthalmia, focal skin hypoplasia and skin tags, and cerebral malformations. Delleman syndrome show over-lapping clinical features with other syndromes like Goldenhar syndrome, encephalo-craniocutaneous lipomatosis and Goltz syndrome. All the reported cases are sporadic with no risk of recurrence in the siblings. No etiological cause has been found yet. Proposed hypothetical molecular pathology are autosomal dominant gene-lethal gene survival by somatic mosaicism, and twin spotting-coexistence of focal dermal hypo-plastic/hyperplastic lesion. In this case surgery for hydrocephalus is indicated to prevent further neurological damage and poor outcome.

S.J. Patil,
Shubha R. Phadke,

Department of Medical Genetics,
SGPGIMS, Raebareli Road,
Lucknow 226 014 (UP), India.
E-mail: shubha@sgpgi.ac.in
 

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