Presentation
At the time of presentation, the child has abnormally protruded eyes with coloboma of middle 1/3 of right upper lid, and medial 1/2 of left upper lid; an abnormal skin fold present below the malformed left lid. [ncbi.nlm.nih.gov]
We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. [semanticscholar.org]
In the following article we present a case, reviewing the main features of the disease. Case Report A male newborn patient was evaluated for genetic syndrome. He presented microphthalmos in the right eye and coloboma in the lower lid [Figure 1]. [ijo.in]
[…] were present since birth. [ijpd.in]
Entire Body System
- Developmental Delay
In these cases, the left side is involved twice as often as the right side.[1][2] Additional findings may include rib and vertebral anomalies and craniofacial anomalies.[1][2][3]Developmental delay and intellectual disability may be present and can vary [rarediseases.info.nih.gov]
Developmental milestones were evidently delayed. A thorough general and systemic examination did not reveal any abnormality except for decreased muscle strength. [ncbi.nlm.nih.gov]
Affected children may demonstrate psychomotor retardation, seizures, and developmental delay. [ijpd.in]
- Epilepsy
Connect More Community Arthritis Chikunguniya Diarrhea Depression Epilepsy Fever Brain Haemorrhage Glaucoma Gastritis Hernia Hair Fall Hair Loss Heart Surgery Cancer Headache High Blood Pressure Impotence Infertility-female Jaundice Breast Cancer Joint [ask4healthcare.com]
Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]
Epilepsy Behav. 2005 May. 6(3):440-3. [Medline]. Ayer RE, Zouros A. Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr. 2011 Sep. 8(3):316-20. [Medline]. [emedicine.medscape.com]
- Pallor
[…] the repeat region on chromosome 14q11.2 #164300 OGUCHI DISEASE Congenital stationary night blindness, golden yellow fundus in light that disappears in dark adaptation (Mizuo-Nakamura phenomenon) AR SAG, GRK1 #258100, #613411 OPTIC ATROPHY Optic nerve pallor [eyewiki.aao.org]
Gastrointestinal
- Failure to Thrive
Most newborns die by the age of 4-5 years old owing to chronic respiratory infections, which cause severe failure to thrive and developmental delays. Treatment is based on an individual's symptoms and includes supportive care. [news-medical.net]
Eyes
- Strabismus
hypertelorism, optic atrophy AD FGFR2 #123500 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME) Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy AD FGFR3 #612247 CUTIS LAXA, DEBRE TYPE Strabismus, myopia, [eyewiki.aao.org]
References Am J Ophthalmol. 1985 Feb 15;99(2):142-8 - PubMed Clin Genet. 1984 May;25(5):470-2 - PubMed Clin Genet. 1984 May;25(5):464-9 - PubMed Clin Genet. 1981 Mar;19(3):191-8 - PubMed J Pediatr Ophthalmol Strabismus. 1985 Jan-Feb;22(1):6-12 - PubMed [pubmed.ncbi.nlm.nih.gov]
J Pediatr Ophthalmol Strabismus 2008;45:181-3. 2. Ortiz-Basso T, Vigo R, Iacouzzi S, Prémoli J. Delleman (oculocerebrocutaneous) syndrome: Case report. Indian J Ophthalmol 2014;62:741-3. [ PUBMED ] [Full text] 3. Arora V, Kim UR, Khazei HM. [npmj.org]
Skin
- Alopecia
It was observed that the child had temporoparietal alopecia over the right side [Figure 1]. [jcor.in]
He had periorbital skin appendages associated with frontal and parietal alopecia. Overlying skin on these regions showed patches of focal dermal hypoplasia. [ijpd.in]
There were focal patches of alopecia with dermal hypoplasia of scalp [Figure 2b and c]. Hyperpigmented patches were seen on the right side of the chest, abdomen and back with a slight extension onto the nape and right arm [Figure 2a]. [ncbi.nlm.nih.gov]
He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp. Read this article (multiple options) Trending Papers [read.qxmd.com]
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. [npmj.org]
- Hyperpigmentation
Modifications of skin are mainly characterized by the existence of areas where skin is missing or poorly developed (aplasia or dermal focal hypoplasia ), alternating with regions in which appear skin folds of brown or red color(hyperpigmentation) especially [enotes.com]
[…] cornea of both eyes (black arrows) (b and c) periocular skin tag (white arrow), and colobomas of right upper lid and left upper lid (white arrows) (a) Hyperpigmented patches involving right side of chest, abdomen and right arm (black arrows) (cutaneous hyperpigmentation [ncbi.nlm.nih.gov]
Musculoskeletal
- Muscle Weakness
synophrys X-linked ARX #300004 PSEUDOEXFOLIATION SYNDROME Glaucoma, white flaky deposits on anterior lens and pupillary border of iris, iris transillumination defects, pigmented granules on trabecular meshwork, poor pupillary response in dilation, weak [eyewiki.aao.org]
Psychiatrical
- Psychomotor Retardation
Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally. Syndrome may go unrecognized, so silent neuroectodermal abnormalities may be present. [accessanesthesiology.mhmedical.com]
Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally. [accesspediatrics.mhmedical.com]
retardation, seizures, and developmental delay. [ijo.in]
It is also known that individuals with this condition may experience seizures, intellectual disability, delayed developmental milestones, or psychomotor retardation. [jcor.in]
Affected children may demonstrate psychomotor retardation, seizures, and developmental delay. [ijpd.in]
Face, Head & Neck
- Frontal Bossing
He had frontal bossing with depressed nasal bridge [Figure 1a] and also slight protrusion of tongue. There were focal patches of alopecia with dermal hypoplasia of scalp [Figure 2b and c]. [ncbi.nlm.nih.gov]
An alopecic frontal plaque with frontal bossing could also be seen [Figure 1].{Figure 1} A dermoid cyst measuring 5 mm was found over the iris and pupil, resulting in a sclerocornea and blindness of the left eye [Figure 2]. [go.gale.com]
- Pierre Robin Syndrome
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 [pediatricneurosciences.com]
- Depressed Nasal Bridge
He had frontal bossing with depressed nasal bridge [Figure 1a] and also slight protrusion of tongue. There were focal patches of alopecia with dermal hypoplasia of scalp [Figure 2b and c]. [ncbi.nlm.nih.gov]
Neurologic
- Seizure
Watch for seizure activity under anesthesia, which may manifest as unexpected autonomic changes. Muscle relaxants may mask seizure activity. [accessanesthesiology.mhmedical.com]
He also developed tonic-clonic seizures after 3 months of age which still continued but decreased in frequency, and the last episode was 2 days before the presentation. [ncbi.nlm.nih.gov]
Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally. [accesspediatrics.mhmedical.com]
Electroencephalogram is useful in those who manifest with seizures. [journals.sagepub.com]
Owing to the cerebral malformations and seizures associated with this syndrome, prolonged anesthesia can be difficult. [10] We, therefore, recommend the use of a sclerosing agent for conservative management of orbital cysts. [ijo.in]
- Cerebral Calcification
calcification are more specific for ECCL, which are unknown in Delleman syndrome, and the absence of orbital dermoids, which are a characteristic feature of Delleman syndrome. [ncbi.nlm.nih.gov]
- Delayed Milestone
milestones) and cutaneous anomalies (focal dermal hypoplasia, alopecia, periorbital skin tags). [n.neurology.org]
- Convulsions
The formation of cutaneous appendages in the periocular region is a characteristic. [4],[5] Neurological anomalies can be manifested by convulsions and psychomotor development disorders. [ijo.in]
Workup
We also recommend a detailed neurological workup in these children; and if a cerebral or cerebellar manifestation such as hydrocephalus is present, it warrants urgent neurological opinion for surgery to prevent further neurological damage. [ijo.in]
Conclusion We recommend a detailed neurological workup in all such cases; and if a cerebral or cerebellar abnormality like hydrocephalus is detected, it necessitates an urgent neurosurgical opinion, to prevent any further damage. [ijpd.in]
X-Ray
- Posterior Fossa Cysts
(b) Left-sided posterior fossa cyst communicating with the fourth ventricle (yellow arrow). (c) Colpocephaly. (d) Note the absence of the corpus callosum. Figure 3. Brain MRI scans. (a–c): T 2 -weighted images; D: T 1 -weighted image. [journals.sagepub.com]
Treatment
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]
Filter Patient Select city Select gender OR Textual Search OCULOCEREBROCUTANEOUS SYNDROME/DELLEMAN SYNDROME Community Posts Female 8, Want to know the best treatment of delleman syndrome problem in pondicherry. [ask4healthcare.com]
Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. [rarediseases.org]
Multidisciplinary treatment approach and long-term neurological follow-up are recommended in these patients. [jcor.in]
Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]
Prognosis
[…] in vision, though the prognosis is poor in this regard. [npmj.org]
Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]
Prognosis The prognosis appears to correlate with the progression of neurologic lesions, either directly or secondary to complications from drug and surgical therapies. Many patients with Haberland syndrome lead normal lives. [emedicine.medscape.com]
Prognosis is generally good in otherwise uncomplicated cases without any systemic involvement; however, some severe cases may require several surgical interventions as early as from birth. [ajnr.org]
Etiology
The condition does not appear to be transmitted hereditary, but is rather a result of spontaneous mutation in the absence of etiologic agents clearly determined. [enotes.com]
To date, around 38 cases have been reported with most of them being males in neonatal/infantile period and somatic mosaicism being suggested as the possible etiology. Treatment is symptomatic. References 1. Moog U, Jones MC, Bird LM, Dobyns WB. [n.neurology.org]
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 [pediatricneurosciences.com]
No etiological cause has been found as yet. It may also show overlapping clinical features with other syndromes like Goldenhar syndrome, encephalo-cranio-cutaneous lipomatosis and Goltz syndrome. [ijpd.in]
Epidemiology
You might also be interested in Internal medicine Occurrence/Epidemiology This section has been translated automatically. <100 cases are described Differential diagnosis This section has been translated automatically. [altmeyers.org]
Introduction History Cause and symptoms Epidemiology Case reports Diagnosis and treatment References Further reading Cerebro-oculo-facio-skeletal syndrome or COFS is a rare neurodegenerative disease with an autosomal recessive pattern of inheritance. [news-medical.net]
Epidemiology Frequency Approximately 60 patients are reported in the literature. No epidemiological data on the frequency of the disorder are available. Race No clear racial predilection exists. [emedicine.medscape.com]
Pathophysiology
Pathophysiology Mechanism causing the anomalies is poorly understood. Abnormal development in week 5 or 6 of gestation could explain most of the symptoms. [accesspediatrics.mhmedical.com]
Pathophysiology The pathogenesis of Haberland syndrome remains unknown. Dysgenesia of the cephalic neural crest and the anterior neural tube is a most widely accepted theory of the pathogenesis of Haberland syndrome. [emedicine.medscape.com]
Clubbing: an update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance. J Am Acad Dermatol. 2005;52(6):1020-1028.PubMedGoogle ScholarCrossref [jamanetwork.com]
Prevention
We also recommend a detailed neurological workup in these children; and if a cerebral or cerebellar manifestation such as hydrocephalus is present, it warrants urgent neurological opinion for surgery to prevent further neurological damage. [ijo.in]
Surgical correction of limbal dermoids should be performed as early as possible to prevent amblyopia. Even if the patient has no perception of light in either eye, enucleation is never a procedure of choice. [cyberleninka.org]
Conclusion We recommend a detailed neurological workup in all such cases; and if a cerebral or cerebellar abnormality like hydrocephalus is detected, it necessitates an urgent neurosurgical opinion, to prevent any further damage. [ijpd.in]