Hypomelanotic Macules Research Articles

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series

ObjectiveWe describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits...

The tuberous sclerosis complex: a review of the literature

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, this leads to dysregulation of the mechanistic target of rapamycin (mTOR) pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs, including the brain and skin. Clinical manifestations encompass a wide range of mainly neurological and dermatological symptoms, often presenting during early childhood and posing diagnostic challenges due to phenotypic variability. Recent advancements in diagnostic criteria, genetic testing, and imaging techniques have facilitated earlier diagnosis and increased disease incidence awareness. Neurologically, TSC commonly presents with cortical tubers, subependymal nodules (SENs), and epilepsy, with seizure control being paramount in preventing long-term neurodevelopmental sequelae. Dermatologically, hypomelanotic macules, facial angiofibromas, and ungual fibromas are hallmark features, often causing significant psychological distress due to disfigurement. Management of TSC requires a multidisciplinary approach, with emerging therapies such as mTOR inhibitors showing promise in addressing both neurological and dermatological manifestations. Early intervention, including epilepsy surgery and targeted treatments for skin lesions, is essential for optimizing outcomes and improving the quality of life for patients with TSC. Continued research into novel therapeutic modalities holds potential for further enhancing the management and prognosis of this complex disorder.

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.

Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review

BackgroundTuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.Case presentationA 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, “confetti” skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.ConclusionsWe report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.

Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended. We aimed to elucidate the state of knowledge of patients/caregivers and physicians on individual disease manifestations. We further examined whether the association to a TSC centre has an impact on the comprehensive consideration of potential disease manifestations. Therefore, a survey was performed in a cohort of German TSC patients and their physicians. Complete information was available for 94 patients with a median age of 18 years [range 1–55] and a sex distribution of 53.2% (male): 48.8% (female). Using almost identical questionnaires for patients/caregivers and their respective physician, there was a good correlation for disease assessments associated with relevant morbidity and mortality like epilepsy, renal angiomyolipoma, cardiac rhabdomyomas or intellectual disability. Correlation was moderate for several neuropsychiatric disorders and only poor for hypomelanotic macules, dental pits or retinal achromic patches. Estimation of overall disease severity using a numeric rating scale correlated highly significantly (Pearson correlation coefficient = 0.767; p < 0.001) between patients/caregivers and physicians. In general, physicians more likely quoted items as ‘unknown’ than patients (822 answers vs. 435 answers in the respective groups). Questionnaires completed by physicians who were associated with a specialized TSC centre declared a significantly lower proportion of items as unknown (mean 8.7% vs. 20.5%; p < 0.001). These findings indicate that patients treated by specialized TSC centres seem to obtain a more comprehensive surveillance. Furthermore, it shows that there were reasonable surveillance strategies in general and sufficient patient/caregiver interaction and education in the examined cohort. However, for the most prominent disease characteristics there was a good awareness within both the patients/caregivers and the physicians group.

Tuberous sclerosis complex, Clinic and pathology manifestations, Mini -review

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibroma, ungual fibromas, shagreen patch, and ‘confetti’ skin lesions). There is a criterion for tuberous sclerosis complex that consists of 11 major and 6 minor clinical features that diagnosis occurs based on it. The best way for a definitive diagnosis of TSC in a patient is by using genetic tests and histopathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. In an aggressive tumor, hydrocephalus, rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcomes. Brain and kidney involvement in this disease is life-threatening. Brain involvement in these patients can lead to extensive neuropsychological complications, so the aim of this study is a concise review of the variable manifestations of this disease with a focus on the histopathological findings of brain involvement.

Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex

To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.

Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.

Facial Neurocutaneous Markers and their Clinical Profile- A Case Report

Cutaneous birth marks are heterogeneous group of congenital skin lesions with a high diagnostic value. A good clinician by looking at the skin, eye and face can diagnose conditions like Neurofibromatosis type 1 (NF1), Tuberous Sclerosis Complex (TSC), Ataxia-telangiectasia, Von Hippel-Lindau disease, Sturge-Weber Syndrome (SWS) and others. The author reports in the present case series, six cases presenting with one or more of the following seven different types of facial neurocutaneous markers like Café-au-lait Macules (CALM), neurofibromas, facial angiofibromas, forehead plaque, hypomelanotic macules (ash-leaf) on the trunk and extremities, capillary malformation in the face (port-wine stain) and ocular telangiectasia. Using these cutaneous markers as red alerts, the authors did a focused clinical examination, ophthalmic and auditory evaluation, neuroimaging, renal and cardiac evaluation to come to a diagnosis. This helped us in detecting clinical syndromes like NF1, TSC, SWS and unveiled the hidden morbidities like hypertension, intracranial tumours, intracardiac rhabdomyoma, glaucoma and others ocular abnormalities. The present case series emphasises on the need for all Paediatrician and Ophthalmologist, to develop a clinical eye to identify neurocutaneous markers in children, who may arrive at their clinic with various problems for early diagnosis and treatment of various neurocutaneous syndrome and their co-morbidities.

LINC-13. Subependymal giant cell astrocytoma in a child with tuberous sclerosis complex: a case report

INTRODUCTION: Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder causing the formation of hamartomas in many organs, including the brain. It is generally benign but can block the flow of cerebrospinal fluid that increases intracranial pressure and leads to severe neurologic and behavioural changes. Subependymal giant cell astrocytoma (SEGA) occurs in 10-15% of TSC patients. Routine brain surveillance is important to look for SEGA in all TSC patients. CASE: We report a girl who was previously diagnosed with TSC at the age of two. She had hypomelanotic macules, facial angiofibroma, and a shagreen patch. Her first brain magnetic resonance imaging (MRI) was normal. She had routine consultation until she complained of recurrent headaches, walking instability, and seizures six years later. Her brain MRI showed a solid heterogenous intraventricular mass suggestive SEGA, with multiple subcortical hyperintense lesions (subcortical tubers), and hydrocephalus. She underwent emergency ventriculoperitoneal shunt (VP shunt) and tumor removal surgery. The histopathology examination matches SEGA, World health organization (WHO) grade I. It consists of polygonal to spindle cells with abundant eosinophilic cytoplasm. There are also large to multinucleated cells. After surgery, she had significant clinical improvement, and the seizure was controlled with valproic acid. CONCLUSION: It is essential to do brain evaluation using brain scan or MRI every 1-3 years as surveillance recommendation in all TSC patients. Early detection dramatically increases the chance of giving early treatment or surgery to lower complications and provide better outcomes.Keywords: Subependymal giant cell astrocytoma, tuberous sclerosis complex, surveillance, early diagnosis

Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.

BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with systemic organ involvement. So far, only a few TSC families in China have been reported. Therefore, more data on the clinical and genetic features of TSC families are required.Materials and MethodsWe retrospectively analyzed 12 TSC family probands and their family members. Next-generation sequencing (NGS) has been applied to confirm the type of TSC mutation along with a detailed physical examination.ResultsIn this study, twenty-seven patients in 12 TSC families were reported, including 12 male and 15 female patients, aged 8–67 years. Skin lesions were detected among all patients with TSC, including 25 cases of facial angiofibromas, 18 cases of hypomelanotic macules, 15 cases of ungual fibromas, and 13 cases of shagreen patch. Other clinical features were also revealed: 14 cases of renal angiomyolipoma, 6 cases of subependymal nodules (SENs), and 3 cases of lymphangioleiomyomatosis. All twenty-seven patients with TSC were tested by NGS. Totally, TSC2 mutations were reported in 19 cases (7 frameshift mutations, 10 nonsense mutations, and 2 missense mutations), TSC1 mutations were reported in 4 cases (4 nonsense mutations), and 4 cases were genetically negative. The novel causal mutations (TSC2: c.208dup, c.1874C > G, c.1852del) identified in three families were first reported in TSC.ConclusionOur findings expand the mutation spectrum of patients with TSC in China. The clinical characteristics can vary among patients with TSC with the same pathogenic mutation. The genetic results and summary of clinical features of 12 TSC families contribute to a more accurate diagnosis and further genetic counseling.

Clinical Appearance of Vitiligo and Piebaldism: A Review Article

Introduction: Vitiligo is idiopathic hypomelanosis characterized by the presence of white macules that can expand. Can affect all parts of the body that contain melanocyte cells, for example, hair and eyes. The cause is unknown, various trigger factors are often reported, for example emotional crisis and physical trauma. Pathogenesis of vitiligo still unclear, there is an association between vitilligo and Hashimoto’s thyroditis, pernicious anemia, and hypoparathyroid melanocytes found in the serum of 80% of vitiligo patients. Moreover, there is disease that similar to vitiligo, called piebaldism. Patches of skin that do not contain pigment that is found at birth and persists for life.The disease is inherited autosomally, due to differentiation and possibly the melanoblast membrane. Discussion: Inheritance of vitiligo can involve genes related to the biosynthesis of melanin, the response to oxidative stress and autoimmune regulation. The macula is white with a diameter of several millimeters to several centimeters, round or oval with defined boundaries, with no other epidermal changes. Hypomelanotic macules are sometimes seen in addition to apigmented macules. In vitiligo macules can be found macules with normal pigmentation or hyperpigmentation called perifollicular repigmentation. Occasionally there is a raised edge of the lesion, erythema and itching, which is called inflammatory. Piebaldism is In the form of skin patches that do not contain pigment on the forehead, median or paramedian, accompanied by white hair. White patches are sometimes also found on the upper chest, abdoment and legs. Normal skin color or hypermelanosis there are areas that are hypomelanosis. Ultrastructural investigation showed no visible melanocytes and melanosomes in hypomelanotic areas. On the other hand, hypemelanotic islets are found with melanocytes that produce melanosomes normally, but if abnormal spheric milanosomes and granules are found, abnormal spherical and ganular melanosomes are also found. Conclusion: It is distinguished from vitiligo which usually does not appear at birth, the shape and distribution are also different. On piebaldism. In piebaldism accompanied by white forlock and the presence of islets with normal pigments in hypomelanotic areas. Differentiated from the nevus with depigmentosus, in the nevus the number of melanocit is normal. If piebaldism is accompanied by abnormalities in the distance of the two pupils or is accompanied by deafness, then the possibility of Waardenburg syndrome should be considered.

Congenital Pigmentary Anomalies in the Newborn

Congenital pigmentary anomalies may be evident at birth or soon after, with some birthmarks becoming apparent later in infancy or early childhood. It is important to recognize various pigmentary anomalies in the neonate, most of which are benign but a subset of which are associated with cutaneous morbidity or systemic ramifications and require further evaluation. This review will focus on pigmentary mosaicism, congenital melanocytic nevi, nevus spilus, dermal melanocytosis, and pigmentary anomalies associated with neurofibromatosis type 1 (café au lait spots, freckling, plexiform neurofibromas, nevus anemicus), tuberous sclerosis (hypomelanotic macules), and incontinentia pigmenti.

Distribution of hypomelanotic macules in tuberous sclerosis complex: A retrospective cohort study

Distribution of hypomelanotic macules in tuberous sclerosis complex: A retrospective cohort study

24988 Spectrum of facial angiofibromas in 85 patients with tuberous sclerosis complex in a tertiary hospital. Retrospective study and revision of the literature

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple hamartomas in different organs. Classic triad, found exclusively in 29% of patients, involves facial angiofibromas, mental retardation, and epilepsy. Dermatologic manifestations appear in 90% of patients, including facial angiofibromas, fibrous cephalic plaques, hypomelanotic macules, Koebner tumours, and shagreen patches.

Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama.

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). Skin biopsy is commonly performed to assert the diagnosis of TSC when the clinical aspect is atypical. Histopathology of TSC cutaneous lesions have been poorly reported until now. In this article, we review the histologic features described in the literature and share our experience of TSC skin biopsies in our pediatric hospital specialized in genetic disorders. Both hypomelanotic lesions and cutaneous hamartomas (angiofibroma/fibrous cephalic plaques, ungual fibromas, shagreen patches) are discussed, including the recent entity called folliculocystic and collagen hamartoma, with a special emphasis on helpful clues for TSC in such lesions.

Molecular-Genetic Characteristics and Genotype-Phenotype Correlations in Bulgarian Patients with Tuberous Sclerosis Complex

Abstract Objective The aim of the study was to determine the molecular-genetic characteristics of the autosomal dominant systematic disorder Tuberous Sclerosis Complex (TSC1 and TSC2) in Bulgarian patients and to derive some genotype-phenotype correlations. Material and Methods In total 42 patients/families with suspected clinical diagnosis of TSC were analyzed. We used direct sequencing and MLPA for the TSC1 and TSC2 gene analysis. Results In 38 families (90.5%) we confirmed the suspected clinical diagnosis – 15 with TSC1 (35.7%) and 23 (54.8%) with TSC2. In 4 families (9.5%) pathogenic variants were not found. In all 38 patients with proven diagnosis of TSC, we found 38 different mutations, 15 of which (39%) were detected for the first time by our research group. The mutation “hotspots“ in TSC1 gene are exons 9, 15, 17 and 18, where 73% of the TSC1 mutations are localized, while the TSC2 gene mutation “hotspots“ are exons 13 and 34, with 22% of the mutations situated there. In the TSC2 patients the common clinical findings include subcortical tubers, epilepsy with generalized tonic-clonic seizures, subependymal giant cell astrocytoma, facial angiofibromas, ungual fibromas, cardiac rhabdomyomas and renal angiomyolipomas, while in the TSC1 patients typically cortical tubers, cortical dysplasia and subependymal nodules were registered. In patients with aggressive frameshift and nonsense TSC1 and TSC2 mutations commonly hypomelanotic macules, cortical and subcortical tubers, cortical dysplasia, epilepsy with different types of seizures were found. Renal angiomyolipomas and cysts were detected mainly in patients with large deletions. Shagreen patches and intellectual disability were typically registered in equal degree in patients with frameshift, nonsense and missense mutations. Conclusion Although some genotype-phenotype correlations were derived, there is a great inter- and intrafamilial clinical variability in TSC, so it is impossible to predict the course of the disease on the basis of the detected molecular defect. The obtained results helped us to develop a diagnostic algorithm for proper molecular-genetic diagnostics which permits adequate genetic counseling, prophylaxis and treatment in the affected TSC families.

Tuberous Sclerosis Complex: Early Screening and Infant Outcome in NICU.

We describe the clinical and genetic features, drug use and neuropsychiatric disorders of infants diagnosed with tuberous sclerosis complex (TSC) within 3 months of age at a neonatal intensive care unit (NICU) to better understand the different outcomes from early screening. In this retrospective study, we consisted of 42 infants with a definitive TSC diagnosis by genetic criteria (TSC1 = 8, TSC2 = 34). The different phenotypes and outcomes between patients with TSC1 and TSC2 mutations were analyzed. The most common initial presenting features of TSC were cortical tubers on magnetic resonance imaging (50%), hypomelanotic macules on skin (47.61%) and spasm (42.85%), when they were diagnosed. Following disease progression to time of follow-up 1 year later, we found that the rate of epilepsy increased from 42.85% to 75.61% and that of cardiac rhabdomyoma increased from 28.57% to 43.9%. The median age at first presentation was 7.84 ± 1.88 months. We also found that 54.83% of patients on medication were seizure free for over 1 year, and that 43.9% of patients have intellectual disability. In total, 42 variants of TSC were detected, including 12 novel variants. We found no evidence of an association between different clinical features and their outcomes among patients with different gene mutations. Early diagnosis of TSC in NICU opens a window of opportunity for early, more effective treatment of epilepsy as well as reduces the risk of neurological conditions.

NEUROCUTANEOUS SYNDROMES: EVALUATION OF CLINICAL AND NEURORADIOLOGICAL FINDINGS

OBJECTIVE: Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are the most common neurocutaneous syndromes. The purpose of this study is to evaluate the clinical and neuroradiological manifestations of patients diagnosed with NF1, TSC, and SWS.MATERIAL AND METHODS: In our clinic, records of 15 patients with NF1, TSC, and SWS were retrospectively reviewed between December 2017 and May 2019. Clinical and neuroradiological manifestations of patients were detailed.RESULTS: 15 patients consisting of 9 NF1, 5 TSC, and 1 SWS were determined between the ages of 9 days and 13,83 years (5 females and 10 males). All NF1 patients had café-au-lait spots. One (11.1%) with lisch nodules, one (11.1%) with optic glioma, one (11.1%) with epilepsy, two (22.2%) with macrocephaly, two (22.2%) with hydrocephalus, one (11.1%) with optic glioma and seven (77.7%) with family history were established. All TSC patients had hypomelanotic macules and epilepsy. It was indicated cardiac rhabdomyoma in 3 (60%) patients, angiomyolipoma in one (20%) patient and polycystic kidney in one (20%) patient. The patient with SWS was showed available of facial angioma, glaucoma, and epilepsy. It was pointed UBOs (unknown bright objects) with 6 (66.6%) patients, 2 (22.2%) patients with hydrocephalus, one (11.1%) patient with subependymal nodule and one (11.1%) patient with optic glioma in NF1 patients. Brain magnetic resonance imaging of all TSC patients showed cortical/subcortical tubers and two patients with subependymal nodules. Cortical and parenchymal atrophy and calcification were presented in cranial computed tomography of the patient with SWS.CONCLUSIONS: Clinical and neuroradiological manifestations of neurocutaneous syndrome are guidance for diagnosis so that detailed examination and neuroradiological perspective on neurocutaneous diseases will provide convenience in diagnosis and follow-up.

Tuberous sclerosis with attention deficit hyperactivity disorder- A case report

A patient with tuberous sclerosis and attention deficit hyperactivity disorders is reported. He presented with generalized tonic-clonic seizures, skin lesions, restlessness, irritability, hyperactivity and impulsivity since 4 years. He had also developed hyperactivity and impulsivity for the past 2 years. Examination showed Shagreen patches and multiple hypomelanotic macules. MRI brain revealed multiple cortical tubers and sub-ependymal nodules. The condition is briefly discussed. Keywords: Tuberous sclerosis, Attention deficit hyperactivity disorder, Tuberous sclerosis associated neuropsychiatric disorders