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

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

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 Tuberous sclerosis complex associated neuropsychiatric disorder in children: experience sharing from a tertiary care hospital

2021 ◽  
Vol 8 (6) ◽  
pp. 961
Author(s):  
Kanij Fatema ◽  
Mizanur Rahman ◽  
Shaheen Akhter ◽  
Roushan Jahan
Keyword(s):  
Psychiatric Disorders ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Early Onset ◽  
Tertiary Care Hospital ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Autism Spectrum ◽  
Psychiatric Evaluation ◽  
Care Hospital

Background: Tuberous sclerosis complex (TSC) is a genetic disorder where there is multisystem involvement. Most important manifestations are neurological and psychiatric disorders. These disorders should be detected timely and addressed adequately. The common psychiatric disorders are autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), intellectual disability (ID), learning disorder etc. This study has been done to describe the pattern of psychiatric disorders in children with TSC.Methods: This is an observational study taken place in a tertiary care hospital taken place on Children of 0-18 years of age. The study subjects were 84 patients with TSC. Detail history and physical examination had been done along with neuroimaging, EEG and target organs screening. Different psychometric tool was used for psychiatric evaluation.  Results: Total 84 patients were included in this study, mean age was 7+3.96 years, 54% were female. Physical finding were as follows: ash leaf spot, shagreen patch, adenoma sebaceum, cafe au lait spot, rhabdomyoma, renal cyst and angiomyolipoma etc.  Seventy patients had epilepsy, most common being focal epilepsy (45.7%), 17.1% had epileptic spasm. Fifty percent patients had developmental delay. Regarding psychiatric disorders, most common disorder was ADHD in 27.38%, ASD in 23.81% and both in 10.71%. ID was found in 20.24% study subjects. Early onset of seizure was associated with more psychiatric disorders.Conclusions: Neuropsychiatric manifestations of TSC are diverse and often are poorly addressed. The most commonly found disorders in this study were ADHD, ASD and ID. Early onset of seizure was associated with the psychiatric disorders in TSC.

scholarly journals Transition into adulthood: Tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis

Epilepsia ◽  
2014 ◽  
Vol 55 ◽  
pp. 29-33 ◽  
Author(s):  
Elizabeth A. Thiele ◽  
Tiziana Granata ◽  
Sara Matricardi ◽  
Harry T. Chugani
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Rasmussen Encephalitis ◽  
Weber Syndrome ◽  
Transition Into Adulthood ◽  
Sturge Weber 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.

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