scholarly journals Ocular Manifestations in Neurocutaneous Syndromes with Emphasis on Neurofibromatosis – A Descriptive Observational Study

2021 ◽  
Vol 8 (9) ◽  
pp. 512-516
Author(s):  
Sija Sudha ◽  
Deepa Molathe Gopalan
Keyword(s):  
Tuberous Sclerosis ◽  
Positive Family History ◽  
Care Hospital ◽  
Phaces Syndrome ◽  
Ocular Manifestations ◽  
Study Results ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes ◽  
Ocular Finding

BACKGROUND Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the eye. Ophthalmic manifestations usually appear early in life and progress with time. The study was conducted to know the prevalence of ocular manifestations in neurocutaneous syndromes with emphasis on neurofibromatosis. METHODS This study was conducted in ophthalmology department at a tertiary care hospital during a period of 2 years among 30 patients. All phakomatoses referred from other specialty departments for ophthalmological evaluation and cases diagnosed in ophthalmology department during routine evaluation were included in the study. RESULTS Neurofibromatosis type 1 (NF-1) accounted for most of (66.67 %) the cases followed by Sturge Weber syndrome (SWS) (20 %). Majority (55 %) of NF-1 and 83.33 % of SWS and all patients of other phakomatoses were in the age group < 30 yrs. 55 % of NF-1 patients were males. 65 % of NF-1 patients gave positive family history. Lisch nodules, the most common ocular finding in NF-1 were present in 85 % of patients and of these 82 % were bilateral. Medullated nerve fibre was seen in 10 % of patients. Glaucoma was seen in 66.67 % of Sturge Weber syndrome patients. Conjunctional telangiectasia was seen in 16.67 % of Sturge Weber syndrome patients. Seizures and radiological features were seen in most patients with Sturge Weber syndrome. Megalocornea with normal intraocular pressure (IOP) was seen in both of our patients with posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACES syndrome). Eyelid coloboma, ectropion uvea, hyperchromia iridis & myopia was seen in one patient with PHACES syndrome. A case of tuberous sclerosis had many systemic features like calcified subependymal nodules, renal angiomyolipomas, skin features and the only ocular finding was hypopigmented iris spots. CONCLUSIONS Ophthalmologist has a role in early recognition of the neurocutaneous syndrome from specific ocular features (like Lisch nodule in NF-1), reducing ocular morbidity by timely treatment (of conditions like glaucoma) and prompt referral to concerned speciality for management of systemic involvement. KEYWORDS Neurofibromatosis, Sturge Weber Syndrome, Tuberous Sclerosis

scholarly journals Pattern of Presentation of Neurocutaneous Syndromes in a Tertiary Care Hospital of Bangladesh

2019 ◽  
Vol 43 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Gopen Kumar Kundu ◽  
Sanjida Ahmed ◽  
Shaheen Akhter ◽  
Md Nasir Hossain ◽  
Rana Kumar Biswas
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Ataxia Telangiectasia ◽  
Autism Spectrum ◽  
Care Hospital ◽  
Cutaneous Manifestations ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndrome ◽  
Neurocutaneous Syndromes

Background: Neurocutaneous syndromes (NCS) represent a group of central nervous system disorders associated with lesion in the skin, eye and possibly other visceral organs. Various cutaneous manifestations usually appear early in life, progress with time but neurological features generally present at a later age. The objective of this study is to observe the frequency of pattern and presentation of various forms of neurocutaneous syndrome. Methodology: A descriptive cross sectional study was conducted at department of Paediatric Neurology of Bangabandhu Sheikh Mujib Medical University(BSMMU), Dhaka, Bangladesh from March, 2015 to February, 2016. Children (3month to 8 years) with NCS, diagnosed on the basis of standard diagnostic criteria for different NCS were included and compared. Results: Among of 27 children,16 (59.26%) boys, 09(40.74%) girls with neurocutaneous syndrome, mean age of presentation was 38.67±18.57 (range 3 month to 84 months). The various forms of NCS observed were Tuberous sclerosis complex (48.14%), Ataxia telangiectasia (29.62%), Sturge Weber Syndrome (14.81%), Neurofibromatosis1(3.7%) and Linear nevus syndrome (3.7%). In Tuberous sclerosis complex , most common feature was facial angiofibroma ( 92.30%), Hypomelanotic macule (76.90%), Shagreen patch (76.90%). In Ataxia telangiectasia, commonest presentation was ataxia 8(100%) followed by ocular telangiectasia (62.50%). In Sturge weber syndrome, commonest presentation was facial capillary malformation (100%). Neurofibromatosis patient presented with café-au-lait spot (100%). Common systemic manifestations of NCS were found in TSC and those were multicystic kidney disease (30.76%), autism spectrum disorder (15.38%) & attention deficit hyperactivity disorder (7.69%). Conclusion: In our study, the commonest neuro-cutaneous syndrome is tuberous sclerosis complex and it’s cutaneous manifestation is facial angiofibroma Bangladesh J Child Health 2019; VOL 43 (1) :15-20

Neurocutaneous syndromes

2011 ◽  
Author(s):  
Robert Grant
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Weber Syndrome ◽  
Von Hippel Lindau Disease ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.

scholarly journals Periodontal Management of Sturge-Weber Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Butchibabu Kalakonda ◽  
Koppolu Pradeep ◽  
Ashank Mishra ◽  
Krishnanjaneya Reddy ◽  
Tupili Muralikrishna ◽  
...  
Keyword(s):  
Oral Manifestations ◽  
Port Wine Stain ◽  
Scaling And Root Planing ◽  
Port Wine ◽  
Ocular Abnormalities ◽  
Parietal Lobes ◽  
Gingival Enlargement ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

Sturge-Weber syndrome (SWS) is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma), and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

P168 Epileptic seizures and control of epilepsy in children with tuberous sclerosis and Sturge Weber syndrome

2009 ◽  
Vol 13 ◽  
pp. S72
Author(s):  
L. Cvitanovic-Sojat ◽  
M. Malenica ◽  
R. Gjergja-Juraski ◽  
M. Pavlovic ◽  
A. Bocan
Keyword(s):  
Tuberous Sclerosis ◽  
Epileptic Seizures ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
And Control

The Ocular Manifestations of the Sturge-Weber Syndrome

1992 ◽  
Vol 29 (6) ◽  
pp. 349-356 ◽  
Author(s):  
Timothy J Sullivan ◽  
Michael P Clarke ◽  
J Donald Morin
Keyword(s):  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Epilepsy and Sleep Disorders

2016 ◽  
pp. 141-160
Author(s):  
Christopher H. Hawkes ◽  
Kapil D. Sethi ◽  
Thomas R. Swift
Keyword(s):  
Sleep Disorders ◽  
Tuberous Sclerosis ◽  
Fatal Familial Insomnia ◽  
Lipoid Proteinosis ◽  
Weber Syndrome ◽  
Epileptic Attack ◽  
Sturge Weber Syndrome ◽  
Refractory Seizures ◽  
Frontal Lobe Seizures ◽  
Wake Transition

This chapter lists diagnostic clues that allow identification of various syndromes by inspection alone, such as tuberous sclerosis, Sturge Weber syndrome, lipoid proteinosis, Angelman’s syndrome, and Rett syndrome. Guides to localization and lateralization are provided, as well as the main causes of refractory seizures. Characteristic EEG patterns found in epilepsy and sleep disorders are illustrated. Diagnostic clues associated with non-epileptic attack disorders are described. Handles are exemplified for the major sleep-related disorders, such as sleep–wake transition disorder, frontal lobe seizures, night terror, catathrenia, Klein-Levine syndrome, fatal familial insomnia, and sleep paralysis.

scholarly journals Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhengping Hu ◽  
Jian Cao ◽  
Eun Young Choi ◽  
Yun Li
Keyword(s):  
Retinopathy Of Prematurity ◽  
Retinal Vessel ◽  
Male Infant ◽  
Clinical Findings ◽  
Choroidal Hemangioma ◽  
Ocular Manifestations ◽  
Weber Syndrome ◽  
Postmenstrual Age ◽  
Sturge Weber Syndrome ◽  
Endothelial Growth Factor

Abstract Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

Epilepsy and Sleep Disorders

2019 ◽  
pp. 148-170
Author(s):  
Christopher H. Hawkes ◽  
Kapil D. Sethi ◽  
Thomas R. Swift
Keyword(s):  
Sleep Disorders ◽  
Tuberous Sclerosis ◽  
Rett Syndrome ◽  
Lipoid Proteinosis ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Refractory Seizures

This chapter lists Handles that would allow identification of various disorders associated with seizures by inspection alone, such as tuberous sclerosis, Sturge-Weber syndrome, lipoid proteinosis, Angelman’s syndrome, and Rett syndrome. Other diagnoses require further detail from the history and examination. Guides to localization and lateralization are provided, and the main causes of refractory seizures are detailed. The problem of non-epileptic attacks is addressed and characteristic EEG patterns are illustrated. Handles for the major sleep-related disorders are exemplified.

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