Retinopathies with Phacomatoses; Pathophysiology, Findings, Diagnosis and Treatment (Von Hippel-Lindau Disease, Tubular Sclerosis, Neurofibromatosis)

2021 ◽  
pp. 279-285
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Neurofibromatosis 1 ◽  
Pancreatic Cysts ◽  
Optic Glioma ◽  
Ocular Involvement ◽  
Protein Loss ◽  
Systemic Involvement ◽  
Von Hippel Lindau ◽  
Nerve Involvement

Phacomatosis is the general name for a group of diseases (Neurofibromatosis 1 (NF-1), Neurofibromatosis 2 (NF-2), Von Hippel Lindau, tuberous sclerosis, ataxia-telangiectasia, and Sturge Weber syndrome) that include different clinical syndromes characterized by eye, skin, neurological and oncological symptoms. They are formed as a result of tumor suppressor protein loss, which controls the abnormal growth of cells. Most of these diseases are autosomal dominant. Neurofibromatosis -1 is the most common type of phacomatosis. autosomal dominant passes. Skin (cafe au-lait = milk coffee stain, armpit, and inguinal freckles), ocular involvement, and nerve involvement (neurofibromas) are seen. In NF-2, in addition to NF-1, 8th cranial nerve involvement is present. In ocular involvement of neurofibromatosis, proptosis, strabismus, pulsatile exophthalmos, ptosis may occur due to neurofibromas. Hamartomas in iris (lisch nodules), posterior subcapsular cataract (more often in NF-2), retinal astrocytic hamartomas, and optic glioma can be seen. Von Hippel Lindau passes autosomal dominant. Brain (cerebellum) spinal cord, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, and renal or pancreatic cysts may occur as systemic involvement. Retinal hemangioblastomas can be seen in ocular involvement. Tuberous sclerosis passes autosomal dominantly. It is a disease in the group of phacomatosis, characterized by hamartomas affecting more than one organ, including the skin, central nervous system, lung, heart, and kidney. Multiple astrocytic hamartomas can be seen in ocular involvement. In conclusion, when these lesions are seen in the eyes, it is necessary to treat them with a multidisciplinary approach considering that systemic involvement may occur.

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 SKLEROSIS PADA ANAK

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Sandra Ayamiseba ◽  
Pieter L. Suling
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Diagnostic Criteria ◽  
Clinical Picture ◽  
Autosomal Dominant ◽  
Histopathological Examination ◽  
Skin Lesions ◽  
Systemic Involvement ◽  
The Us ◽  
Dominant Disease

Abstract: Tuberous sclerosis (TS) is an autosomal dominant disease associated with mutation of one of two different genes, TSC1 or TSC2. The typical clinical picture of TS cases is skin lesions, mental retardation, and epilepsy. According to the consensus of TS alliance, the US National Tuberous Sclerosis Association, in July 1998, the diagnostic criteria of TS are based on major and minor symptoms: two major symptoms, or one major and two minor symptoms. The management of the skin disorders such as angiofibroma with a cosmetic purpose can be done by using electrocauterization, dermabrasion, and excision. The prognosis depends on the systemic involvement. We reported a case of a male, aged 7 years, with 2 major symptoms of TS: facial angiofibroma that spreaded to his neck and back, and hypomelanotic macula on his back. The histopathological examination showed subepithelial keratosis associated with fibrocollagen tissue and teleangiectasis in the stroma, atrophy of sebacceous glands, without any malignancy. Conclusion: In this case, the diagnosis of tuberous sclerosis was based on anamnesis, clinical picture (two major symptoms), and histopathological examination. Electrocauterization could not be performed because the patient was incooperative. The prognosis was quo ad vitam, quo ad functionam, quo ad sanationam: dubia.Keywords: tuberous sclerosis, multiple hyperpigmented noduleAbstrak: Tuberous sklerosis (TS) merupakan suatu penyakit autosomal dominan yang dihubungkan dengan mutasi satu dari dua gen yang berbeda, yaitu TSC1 atau TSC2. Gambaran klinis yang khas pada kasus ini ialah lesi kulit, retardasi mental, dan epilepsi. Berdasarkan konsensus aliansi US National Tuberous Sclerosis Association pada Juli 1998 dirumuskan kriteria diagnostik berdasarkan adanya gejala mayor dan minor, yaitu dua gejala mayor; atau satu gejala mayor dan dua gejala minor. Prinsip pengobatan untuk kelainan kulit berupa angiofibroma dengan tujuan kosmetik yaitu dengan elektrokauter, dermabrasi, dan eksisi. Prognosis tergantung pada keterlibatan sistemik. Pada kasus ini ditemukan 2 gejala mayor yaitu angiofibroma pada wajah yang menyebar ke leher dan punggung serta makula hipomelanotik pada punggung. Pemeriksaan histopatologik jaringan menunjukkan hiperkeratosis subepitelial di lapisan epidermis. Tampak stroma jaringan ikat fibrokolagen dengan pelebaran pembuluh darah kapiler, kelenjar sebaseus atrofi, dan tidak didapatkan tanda-tanda keganasan. Simpulan: Pada kasus ini, diagnosis TS ditegakkan berdasarkan anamnesis, gambaran klinis (2 gejala mayor), dan pemeriksaan histopatologik. Penatalaksanaan dengan elektrokauter tidak dapat dilakukan karena pasien tidak kooperatif. Prognosis tergantung gejala klinis, quo ad vitam, quo ad functionam, quo ad sanationam: dubia.Kata kunci: tuberous sklerosis, nodul hiperpigmentasi multipel

Multifocal Pancreatic Neuroendocrine Neoplasms In Tuberous Sclerosis: A Rare Case

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S77-S77
Author(s):  
N C Jadhav ◽  
D L Gang
Keyword(s):  
Tuberous Sclerosis ◽  
Neurofibromatosis Type ◽  
Abdominal Ultrasound ◽  
Biologically Active ◽  
Pancreatic Tumors ◽  
Neuroendocrine Neoplasms ◽  
Ki 67 ◽  
Pancreatic Neuroendocrine Neoplasms ◽  
Von Hippel Lindau ◽  
Multifocal Disease

Abstract Casestudy: Pancreatic neuroendocrine neoplasms (PanNEN) are rare accounting for 2-5% of pancreatic tumors. Although mostly sporadic, 10-20% are associated with inherited syndromes, notably MEN-1, Von Hippel- Lindau disease, neurofibromatosis type 1, and tuberous sclerosis (TS). When compared to sporadic cases, PanNEN in hereditary syndromes occur at a younger age, are often multifocal, cystic, and may show characteristic microscopic patterns. TS is an autosomal dominant multi-system disorder with mutations involving TSC1 or TSC2 genes which function as tumor suppressors by inhibiting mTORC1 kinase. PanNEN is observed in 1.5-1.8% of patients with TS and no surveillance guidelines for the assessment of pancreatic lesions are established. Compared to other syndromes, PanNEN associated with TS are solitary. To our knowledge, only two cases of multifocal PanNEN in TS patients have been reported. We present a case of a 67-year-old gentleman with a history of TS also affecting two daughters. He presented to the emergency department with severe abdominal pain. Abdominal ultrasound suggested acute appendicitis and an incidental 2.0 cm solid lesion was noted in the head of the pancreas. Follow-up MRI revealed two additional non-cystic masses in the pancreatic tail. Endoscopic ultrasound-guided biopsy of a tail lesion revealed monomorphic tumor cells with stippled chromatin without cytologic atypia. Immunohistochemical staining was positive for synaptophysin and chromogranin. Ki-67 labelling index was under 1%. Diagnosis of a well-differentiated neuroendocrine tumor (G1) was made. The patient denied symptoms of the carcinoid syndrome and no biologically active hormones were detected. Gallium PET scan revealed multiple foci of radiotracer uptake throughout the pancreas in addition to those described on MRI. Although PanNEN are rare in TS, malignant behavior has been reported. This case reinforces the importance of early detection through active surveillance, especially as surgical options may be limited in multifocal disease.

Von Hippel-Lindau Syndrome Presenting as Pancreatic Cysts

2001 ◽  
pp. 325-330
Author(s):  
F. Scolari ◽  
B.F. Viola ◽  
L. Grazioli ◽  
R. Maiorca
Keyword(s):  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

scholarly journals Two Cases of Tuberous Sclerosis With Multiple Rhabdomyoma Succumbing to Sudden Cardiac Death

2021 ◽  
pp. 263246362110124
Author(s):  
Manjappa Mahadevappa ◽  
Vikram Patil ◽  
K.S. Poornima ◽  
Sowmya Velamala ◽  
B.V. Guruprasad
Keyword(s):  
Sudden Cardiac Death ◽  
Tuberous Sclerosis ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Organ Systems ◽  
Dominant Condition ◽  
Variable Penetrance

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It is characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac involvement is marked by the presence of multiple rhabdomyomas and in some cases arrhythmias. In the absence of symptoms, rhabdomyomas require no specific treatment. However, cardiac arrhythmias are unpredictable and may be the cause of sudden cardiac death in some cases. Although treatment is mainly symptomatic, drugs like rapamycin have shown promise in the regression of astrocytomas and angiofibromas. Here, we are reporting two cases of tuberous sclerosis of which one succumbed to arrhythmias and the other to possible sudden cardiac death.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals Atypical presentation of Goldenher syndrome- a rare scenario

2014 ◽  
Vol 9 (4) ◽  
pp. 51-54
Author(s):  
C Lath ◽  
S Sen ◽  
M Mondal ◽  
D Maiti ◽  
R Singh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Chromosomal Analysis ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Medical Sciences ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

scholarly journals Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations

2018 ◽  
pp. bcr-2018-226662
Author(s):  
Tiago Maio ◽  
José Lemos ◽  
Jorge Moreira ◽  
Filipa Sampaio
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Nerve Palsy ◽  
Autosomal Dominant ◽  
Obstructive Hydrocephalus ◽  
Abducens Nerve ◽  
Signs And Symptoms ◽  
Optic Discs ◽  
Expansive Lesion ◽  
Binocular Diplopia

The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. She had right abducens nerve palsy, pale oedema of both optic discs and retinal hamartomas. An obstructive hydrocephalus caused by an intraventricular expansive lesion was identified in brain CT.Observation by the ophthalmologist is indicated in all confirmed or suspected cases of tuberous sclerosis to aid in clinical diagnosis, monitoring of retinal hamartomas or identification of poorly symptomatic papilloedema.

Massive postoperative ascites following pancreatic cysts fenestration in a patient with von Hippel-Lindau disease

2008 ◽  
Vol 32 (11) ◽  
pp. 910-913
Author(s):  
S. Gaujoux ◽  
B. Terris ◽  
J. Bertherat ◽  
V. Vilgrain ◽  
P. Ruszniewski ◽  
...  
Keyword(s):  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease
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