|Year : 2018 | Volume
| Issue : 3 | Page : 191-194
Delleman syndrome: A case report from West Africa - features and the challenges of management
Mary Ugalahi1, Bolutife Olusanya1, Oluyemi Fasina1, Mukaila Seidu1, Ademola Adekanmi2
1 Department of Ophthalmology, University College Hospital, Ibadan, Nigeria
2 Department of Radiology, University College Hospital, Ibadan, Nigeria
|Date of Web Publication||26-Sep-2018|
Department of Ophthalmology, University College Hospital, University of Ibadan, Ibadan
Source of Support: None, Conflict of Interest: None
Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a large area of alopecia and scalp hypoplasia involving the left frontoparietal region. Transfontanelle ultrasound scan did not reveal any intracranial cyst. Cranial computerised tomography subsequently revealed characteristic cerebral malformations of Delleman syndrome. This report demonstrates clinical and computed tomographic features of a case of Delleman syndrome with emphasis on the usefulness of transfontanelle ultrasonography in assessing for life-threatening intracerebral cysts or hydrocephalus, particularly in resource-limited settings, where neuroimaging is not readily available or affordable.
Keywords: Delleman, oculocerebrocutaneous syndrome, West Africa
|How to cite this article:|
Ugalahi M, Olusanya B, Fasina O, Seidu M, Adekanmi A. Delleman syndrome: A case report from West Africa - features and the challenges of management. Niger Postgrad Med J 2018;25:191-4
|How to cite this URL:|
Ugalahi M, Olusanya B, Fasina O, Seidu M, Adekanmi A. Delleman syndrome: A case report from West Africa - features and the challenges of management. Niger Postgrad Med J [serial online] 2018 [cited 2019 Feb 20];25:191-4. Available from: http://www.npmj.org/text.asp?2018/25/3/191/242206
| Introduction|| |
Oculocerebrocutaneous syndrome was first described by Delleman and Oorthuys in 1981 in a report of two cases.,,, It is a rare disorder with about 50 cases reported in the literature. There is a male preponderance but no known racial predilection. It has no definite pattern of inheritance, but somatic mosaicism has been postulated.,,
The syndrome manifests with a constellation of neuroectodermal defects which generally include periorbital skin tags, eyelids abnormalities, microphthalmia, orbital cysts, focal alopecia, hypoplastic or aplastic cutis and cerebral features which are commonly intracranial cysts and corpus callosum agenesis.,,,, Similar features are seen in Goldenhar syndrome; however, the skin tags are peri-auricular. Encephalocraniocutaneous lipomatosis and Hueber syndrome are other differential diagnoses of Delleman syndrome. A combination of Delleman and Goldenhar syndrome occurring in a single patient has been reported in the literature.
This is the first case of Delleman-Oorthuys syndrome reported from West Africa to the best of our knowledge, and we report the challenges we encountered in the management of the patient.
| Case Report|| |
An 8-month-old female who was delivered to a 33-year-old woman and a 40-year-old man in a nonconsanguineous union. Both parents are Nigerians of African descent. She presented at our clinic with a history of a fleshy mass covering the left eye since birth. The mass had remained static in size without protrusion of the eyeball.
Her mother received antenatal care, and there was no history of exposure to teratogens or a history of febrile illness during pregnancy. The baby was delivered full term. It was by spontaneous vaginal delivery and the neonatal period was uneventful. There was no history of seizures or a rapid increase in head size. Developmental milestones were within normal limits and she was standing with support at 8 months of age. There was no history of similar complaints in the older sibling or any family members.
Ocular examination revealed good fixation in the right eye and an aversion to occlusion of the right eye which connotes poor vision in the left eye. She had normal anterior and posterior segments in the right eye. In the left eye, there was an upper eyelid coloboma, associated with periorbital skin tags around the lateral canthus associated with mild lagophthalmos. There was an epibulbar dermoid involving the temporal conjunctiva and the temporal 4/5th of the cornea (extending clockwise from 11 to 7 o'clock). The epibulbar dermoid precluded a view of the anterior and posterior segments of the left eye [Figure 1]. There was neither deviation nor restriction of eye movement in the left eye.
|Figure 1: The left epibulbar dermoid involving the temporal conjunctiva and the temporal 4/5th of the cornea (from 11 to 7 o'clock, clockwise). The upper lid coloboma is seen at the junction of the medial third and lateral two-thirds of the upper eyelid. Periorbital skin tags are seen around the lateral canthus|
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On systemic examination, there was a large area of alopecia measuring about 12 cm × 11 cm over the left frontoparietal region of the scalp, extending to the vertex with associated punched out areas of the skin (hypoplasia cutis) [Figure 2]. The occipito-frontal circumference was 45 cm which was normal for her age, and there was no focal neurologic deficit. Other systems including the genitalia and limbs were essentially normal.
|Figure 2: The area of alopecia measuring about 12 cm by 11cm over the left parietal-occipital region of the scalp and extending to the vertex. An area of hypoplasia cutis is indicated by the arrow|
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An orbital ultrasound scan (USS) showed no orbital cysts. Both right and left globes had normal findings on ultrasonography with no obvious pathology of the lens or posterior segment of the left eye. Neuroimaging was requested at presentation, but due to the lack of health insurance and financial constraints, parents could not afford it. As an alternative, a transfontanelle cranial ultrasound was performed which did not reveal any intracranial cyst or hydrocephalus [Figure 3].
|Figure 3: Transfontanelle Ultrasound scan picture showing sagittal mid-line image of the brain. There was no obvious intracranial cyst or hydrocephalus|
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A clinical diagnosis of Delleman syndrome was made. Her parents were counselled on the need for neuroimaging to confirm the absence of severe intracranial abnormalities; the poor visual prognosis of the left eye and the need for excision of the epibulbar dermoid for cosmetic reasons and possible improvement in vision, though the prognosis is poor in this regard.
A follow-up visit 4 months later showed that she was still free of any neurological deficit and seizures. In addition, she was walking well with no gait abnormality. No enlargement of the head was reported, and the cutaneous features remained the same. The occipito-frontal circumference was 47 cm which was normal for her age.
A cranial computerised tomography scan performed at the age of 1 year revealed disparity in the sizes of the cerebral hemispheres with prominence and widening of the sulci, the cerebrospinal fluid (CSF) spaces, the basal cisterns and the Sylvian fissure in the left hemisphere as well as dilated frontal and occipital horns of the left lateral ventricle [Figure 4]. These features were in keeping with left cerebral atrophy.
|Figure 4: Cranial computerized tomography images obtained at the age of 1 year (a) coronal image showing left fronto-parietal lobe atrophy and dilatation of the frontal horn of left lateral ventricle (b) coronal image shows midline cystic collection communicating with the basal cistern. Left Parieto-occipital lobe cerebral atrophy is also noted (c) sagittal image showing agenesis of the splenium of the corpus callosum and hypoplasia of the body, genu and rostrum as well as left fronto-parieto-occipital lobe cerebral atrophy (d) is an axial image that shows dilated occipital horn of the left lateral ventricle|
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In addition, there was agenesis of the splenium of the corpus callosum and hypoplasia of the body, genu and rostrum with intracranial cystic collection between the bodies of the lateral ventricles communicating with the CSF in the basal cistern [Figure 4]. There was the prominence of the cerebellopontine cistern and cistern Magna [Figure 4]. The midbrain, cerebellum and fourth ventricle all appeared normal. Irregular bone densities in the posteromedial aspect of the left orbit were also observed.
| Discussion|| |
The cutaneous and brain malformations seen in this patient are in accordance with the features of Delleman syndrome. Unilateral involvement as seen in this patient is the more common pattern of presentation. The occurrence in this patient appears sporadic as there is neither a family history nor consanguinity in her parents. Similarly, most of the previous reports have been sporadic cases. Notwithstanding, genetic studies would be useful in this family for better characterization of the genetic mutation that resulted in the anomaly.
We find it remarkable that the patient, at 1 year of age, has no neurologic deficit in spite of the degree of intracranial maldevelopment detected in neuroimaging. This is similar to an earlier case report in which the neurologic deficit observed was less severe than the intracranial abnormalities. Nevertheless, a long-term follow-up with close monitoring of our patient is necessary as neurological symptoms may develop as she grows older.
Varying degrees of phenotypic severity of Delleman Syndrome have been reported in the literature.,, Therefore, the absence of an orbital cyst in our patient does not rule out Delleman syndrome. A review of 16 patients revealed that not all patients with Delleman syndrome have orbital cysts. Other entities we considered as differential diagnoses in this patient include encephalocraniocutaneous lipomatosis, Haberland, Goldenhar and Goltz syndromes. The cerebral malformations in our patients are, however, characteristic of Delleman syndrome.
The diagnosis and management of this patient were hampered by challenges related to financial constraints. This was especially due to lack of health insurance. A common scenario in our environment where health insurance coverage is poor and health care is financed through out-of-pocket expenses by a majority of the populace. In the absence of finances for a magnetic resonance imaging or computerised tomography of the brain, a transfontanelle cranial USS was performed to enable us to detect hydrocephalus at presentation.
We advocate the use of transfontanelle cranial ultrasound for the evaluation of similar patients in settings where health care financing may be a challenge. This would enable early detection of ominous intracranial features while more expensive neuroimaging studies are being awaited. The yield of USS has been revealed to be high in the diagnosis of intracranial cysts or hydrocephalus in neonates. A large intracranial cyst or hydrocephalus requires urgent surgical care as these may be life-threatening.
In spite of this usefulness for early detection of deadly large intracranial lesions, transfontanelle USS has some limitations and cannot be solely relied on for the evaluations of these patients. For instance, transfrontanelle ultrasound did not detect the cerebral malformations in our patient. This limitation may be due to the resolution of the ultrasound used. In addition, cranial ultrasound has limited use in older children who no longer have patent fontanelles.
| Conclusion|| |
To the best of our knowledge, we report the first case of Delleman Syndrome in West Africa, a rare congenital birth defect and the challenges encountered in its diagnosis in a resource-limited setting. Given the financial burden of health care costs on our patients, investment in health care is vital, and the need for better and wider coverage of the health insurance scheme in our country cannot be overemphasised. We also recommend the provision of free health care for children who are particularly vulnerable in our population dynamics.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
The authors would like to thank University College Hospital, Ibadan, Nigeria.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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