Oculocerebrocutaneous (Delleman) Syndrome: Report of Two Cases

Abstract

We describe two cases of oculocerebrocutaneous syndrome (OCCS) or Delleman syndrome, characterized by congenital anomalies that involve the skin, orbit, and central nervous system (CNS). Complete MRI studies of the orbit, CNS and the entire spinal region must be performed in these cases. New MRI techniques can show cortical malformations, such as polymicrogyria, lissencephaly, or abnormal disposition of cortical sulci and gyri. Lesions can be bilateral or unilateral, as occurred in our patients. In one case, the ocular, skin, cerebral, and cerebellar lesions involved mainly the same side, whereas in the second case, all anomalies were generalized and the patient also showed skin hypopigmented lesions distributed bilaterally. Both patients show severe encephalopathy and Dandy-Walker malformation. One case is blind and shows generalized hydrocephalus, and the other one has vision through an eye, and has complete agenesis of the corpus callosum and severe disorder of neuronal migration and cortical organization with polymicrogyria and abnormal cortical sulci and gyri in a cerebral hemisphere. Our second case shows arachnoid cysts in both temporal, retrocerebellar, and spinal (D₈ - D₁₁) regions, and lipoma in the pontomedullary and spinal (D₄ - D₇) regions. The latter features correspond more to ECCL than to OCCS. The overlap between the two syndromes is unquestionable and it is possible that they constitute different manifestations of the same disorder.

Key words

Oculocerebrocutaneous syndrome (OCCS) - Delleman syndrome - encephalocraniocutaneous lipomatosis (ECCL) - Haberland syndrome - neurocutaneous diseases - spinal lipomatosis - encephalopathy - cerebral malformations

References

• 1 Al-Gazali L I, Donnai D, Berry S A, Say B, Mueller R F. The oculocerebrocutaneous (- Delleman) syndrome.  J Med Genet. 1988;  25 773-778
• 2 Delleman J W, Oorthuys J WE. Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity?.  Clin Genet. 1981;  19 191-198
• 3 Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis.  Arch Neurol. 1970;  22 144-155
• 4 Hennekam R C. Scalp lipomas and cerebral malformations: overlap between encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome.  Clin Dysmorphol. 1994;  3 87-89
• 5 Landenheim J, Metrick S. Congenital microphthalmos with cyst formation.  Am J Opthalmol. 1956;  41 1059-1062
• 6 McCandless S E, Robin N H. Severe oculocerebrocutaneous (- Delleman) syndrome: overlap with Goldenhar anomaly.  Am J Med Genet. 1998;  78 282-285
• 7 Moog U, de Die-Smulders C, Systermans J MJ, Cobben J M. Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.  Clin Genet. 1997;  52 219-225
• 8 Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G. Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases.  Am J Neuroradiol. 1999;  20 173-176
• 9 Tambe K A, Ambekar S V, Bafna P N. Delleman (- oculocerebrocutaneous) syndrome: few variations in a classical case.  Eur J Pediatr Neurol. 2003;  7 77-80
• 10 Valencia I, Carapeto F J, Ventura P, Samper M P, Rodriguez G, Pérez-Gonzalez J M. et al . Encephalocraniocutaneous lipomatosis: neurologic manifestations.  J Child Neurol. 2003;  18 725-729