Delleman syndrome with Goldenhar overlap.

Sir,

We report here an interesting case of a two and a half year-old boy who presented with features of Delleman syndrome with Goldenhar overlap. Delleman syndrome includes orbital cysts or microopthalmia, focal skin defects and central nervous system cysts, and/or hydrocephalus (oculocerebrocutaneous syndrome)[1] whereas Goldenhar syndrome includes a triad of epibulbar dermoid, accessory auricular appendages, and preauricular fistulae.[2] Various CNS, cardiac, vertebral, pulmonary, GIT, and facial defects have been later added to Goldenhar syndrome.[3]

This two and a half year-old boy presented with complaints of a large head, absent right eye, right ear, and right facial hemiatrophy. Examination revealed his head circumference to be 49 cm; the anterior and posterior fontanelles were open and tense. He had a 2 cm soft, nontender, nonpulsatile, transilluminant swelling with a cough impulse in the scalp, over the right medial parietal region. He had an absent right eye with partially formed eyelids but a normal left eye [Figure 1]. The right ear pinna was absent with no visible external auditory meatus. There was a skin tag in the region of the right ear whereas the left ear was low set and the pinna malformed with an abnormal preauricular skin tag. He had right facial hemiatrophy [Figure 2] and the palate was high-arched. He had a dimple in the midline lumbar region superior to the natal cleft with no skin tethering, hair tuft, lipoma, sinus, hyperpigmented patch, or spina bifida. There were no other anomalies or neurocutaneous markers. The fundus was normal in the left eye and there were no focal neurological deficits.

Figure 1

This clinical picture shows an absent right eye with partially formed eyelids and a normal left eye. The left ear is low set with a malformed pinna

Figure 2

This clinical picture shows that the right ear pinna is absent with no external auditory meatus seen. There is a skin tag seen in the region of the right ear. Right facial hemiatrophy also can be appreciated

CT of the brain [Figures 3a and b] showed obstructive hydrocephalus with dilated lateral and third ventricles but a normal fourth ventricle. The bony orbit was present on the right side although there was no globe seen within. The bony part of the right external auditory canal was not visualized. The patient underwent a medium-pressure, right, ventriculoperitoneal shunt. Postoperatively, the fontanelles became lax and the parietal scalp swelling also decreased in size. The child was asymptomatic at one year follow-up.

Figures 3a and b

CT brain showing obstructive hydrocephalus with dilated lateral and third ventricles and normal fourth ventricle

Oculocerebrocutaneous syndrome or Delleman syndrome is a multiple congenital anomaly syndrome characterized by orbital cysts, cerebral anomalies, and focal dermal hypoplasia.[1] A more severe form of oculocerebrocutaneous syndrome can have anophthalmia, congenital hydrocephalus, as well as cleft lip and palate. This is a rare and sporadic disorder and possible etiological hypotheses include the survival of a lethal mutation by mosaicism and external causal factors.[4] Disruption of the anterior neuroectodermal plate seems to be the most probable pathogenic mechanism. A primarily unilateral involvement of this syndrome has been emphasized.[4] A postzygotic or somatic mutation resulting in a mosaic state might account for the primarily ectodermal involvement, unilateral predominance, and the sporadic nature of this syndrome.[4] One report from India has been that of a 4 year-old male child who presented with oculocerebrocutaneous syndrome featuring focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst, and optic atrophy.[5] Cases of Delleman syndrome need to be differentiated from encephalo-cranio-cutaneous lipomatosis.[5]

Goldenhar syndrome, first described by Von Arct and later by Goldenhar, represent morphological abnormalities involving the first and the second branchial arches. Due to the anomalies of the eye, ear, and vertebral column, Goldenhar syndrome is also known as oculoauriculovertebral syndrome.[6] Goldenhar syndrome have also been reported with rare associations.[7] Definitive etiology has not been described—the proposed factors are abnormal mezoblastic development and abnormal embryonic vascular supply of the first arch.[8] Although most cases are sporadic, autosomal dominant and autosomal recessive modes of inheritance have been described. Trisomy of 7, 22 have been described in association with Goldenhar syndrome.[9] The syndrome usually has a male predominance and the right side is preferentially involved. Goldenhar syndrome needs to be differentiated from Treacher Collins and Pierre-Robin syndromes.[10]

In our case, the possibility of Dellemans syndrome with Goldenhar overlap was considered because of the absent right eye and hydrocephalus (features of Dellemans syndrome) and absent right ear, preauricular skin tags, and right facial hemiatrophy (features of Goldenhar syndrome). Multiple variants of these syndromes have been described, but, to the best of our knowledge, the combination of features described in our case has not been reported to date. A detailed clinical examination is required in these cases to document all the abnormalities and a multidisciplinary approach is usually required in the appropriate management and rehabilitation of these cases.