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What is Port wine stain of the face, seizures, hemiparesis, intracranial calcification and glaucoma are features of? and explain in detail?
Ans. c (Sturge-Weber syndrome) (Ref. Harrison's medicine 17th/Chapter 379; IADVL 2nd/ pg l68)PHAKOMATOSES (NEUROCUTANEOUS SYNDROMES = NEUROECTODERMAL DYSPLASIAS)# Autosomal dominant:- Neurofibromatosis (von Recklinghausen synd)# Not autosomal dominant:- Encephalotrigeminal angiomatosis (Sturge-Weber synd)- Tuberous sclerosis (Bourneville synd)- Retinocerebellar hemangioblastoma (VHL synd)- Neurocutaneous melanosis- Ataxia-telangiectasiaSTURGE-WEBER SYNDROME (ENCEPHALOTRIGEMINAL ANGIOMATOSIS)# Classical triad:- Facial portwine stain in distribution of VI (trigeminal nerve), present at birth and unilateral; may cross midline.- Mentral retardation- Seizures# Ocular features:- Ipsilateral glaucoma,- Buphthalmos,- Strabismus and- Loss of vision,# CT SCAN:- "Tram-track" or S-shaped intracranial calcifications, seen after the age of 2 years.- Ipsilateral Choroid plexus and venous angiomas with leptomeningeal angiomatoses over the parietoccipital lobes.VON HIPPEL-LINDAU DISEASE# Mutation of the von Hippel-Lindau (VHL) gene on chromosome 3p, a tumor-suppressor gene, causes this disorder.# Associated tumors:- Hemangioblastomas (Erythropoietin producing) - cerebellum, retina, medulla, spinal cord- Renal cysts 60%; Pancreatic, epididymis, or liver cysts- Renal cell carcinoma 45%- Pheochromocytoma (NIH Type 2a or 2b)- Islet cell tumors; Endolymphatic sac tumors; Serous adenomasTUBEROUS SCLEROSIS (BOURNEVILLPS DISEASE)# Autosomal dominant# Classical clinical triad of = EPIlepsy, LOw IQ, Adenoma sebaceum (EPDLOIA).# 'Ash leaf' macule - the earliest cutaneous sign & results in poliosis (circumscribed patch of gray-white hair)# Hamartomas involving many organs# Cardiac rhabdomyomas# Angiomyolipomas of kidneys, liver, adrenals, and pancreas (Angiomyolipomas are the most common renal abnormality, occur bilaterally, are often multiple, and are usually asymptomatic)# Brain -- periventricular subependymal nodules- Cortical tubers- 15% develop subependymal giant cell astrocytoma (SEGA) - the foramen Munro tumor# Lungs - LAM (Lymphangioleomyomatosis) and pulmonary interstitial fibrosisNEUROFIBROMATOSIS TYPE 1 (VON RECKLINGHAUSEN'S DISEASE)# NF1 is characterized by cutaneous neurofibromas, pigmented lesions of the skin called cafe au lait spots, freckling in non-sun-exposed areas such as the axilla, hamartomas of the iris (Lisch nodules), and pseudoarthrosis of the tibia.# Neurofibromas present as multiple, palpable, rubbery, cutaneous tumors.# Aqueductal stenosis (hydrocephalus), scoliosis, short stature, hypertension, epilepsy, & mental retardation may occur.# Patients with NF1 are at T risk of developing nervous system neoplasms, including plexiform neurofibromas, optic pathway gliomas, ependymomas, meningiomas, astrocytomas, and pheochromocytomas.# Mutation of NF1 gene on chromosome 17 causes von Recklinghausen's disease. The NF1 gene is a tumor-suppressor gene; it encodes a protein, neurofibromin, which modulates signal transduction through the ras GTPase pathway.NEUROFIBROMATOSIS TYPE 2 (MISME Complex)# bilateral vestibular schwannomas in >90% of individuals who inherit the gene.# Predisposition for the development of Meningiomas, gliomas, and Schwannomas of cranial and spinal nerves.# In addition, a characteristic type of cataract, juvenile posterior subcapsular lenticular opacity, occurs in NF2.# Multiple cafe au lait spots and peripheral neurofibromas occur rarely.# This syndrome is caused by mutation of the NF2 gene on chromosome 22q; NF2 encodes a protein called neurofibromin 2, schwannomin, or merlin, with homology to a family of cytoskeletal proteins that includes moesin, ezrin, and radixin.