AJNR Am J Neuroradiol 1995; 16:1076-1079. Insurance products are issued by: John Hancock Life Insurance Company (U.S.A.), Boston, MA 02116 (not licensed in New York) and John Hancock Life Insurance Company of New York, Valhalla, NY 10595. Downs SM, van Dyck PC, Rinaldo P, et al. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. J Clin Ultrasound. The mechanism that regulates the brain cell reproduction and multiplication is, for reasons that are poorly understood, thrown out of synchronization so that the number, type and location of brain cells are abnormal. Seizures can begin in very early infancy and are often drug-resistant. B, Axial T2-weighted image shows asymmetry of the pons and hemicerebellum. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. The surface of the brain normally has many ridges or folds, called gyri. Hemimegalencephaly (HME) is a rare congenital malformation of cortical development, usually associated with developmental delay and severe epilepsy. Schilling LP, Kieling RR, Pascoal TA, Kim HI, Lee MC, Kim YH, Paglioli E, Neto PR, Costa JC, Palmini A. Epilepsia. No asymmetry was noted in the trigeminal nerves. Learn about symptoms, cause, support, and research for a rare disease. Flores-Sarnat L, Sarnat HB, Dvila-Gutirrez G, Alvarez A.Hemimegalencephaly: part 2. Hemimegalencephaly is caused by a spontaneous mutation which occurs on the mTORpathway at approximately the third week of gestation. It is primarily a proliferative disorder of embryonic origin. Treatments in stage 1 may include physical therapy to improve balance and address muscle stiffness. Agid R, Lieberman S, Nadjari M, Gomori JM. Alexander disease (AD) is a rare leukodystrophy characterized by progressive neurologic impairment, typically affecting infants and children but occasionally presenting in adults. Sources1. B, Coronal T1-weighted image reveals findings similar to those in A (arrow). Seizures in association with HME often begin in early infant life including an association with infantile spasms. It is important to note here that seizures in childhood, especially if they begin in early infancy, can be catastrophicto the childs development. It causes severe seizures, which are often frequent and hard to control. The seizures usually do not decline in severity or number with medical treatment and in some cases they may exceed 50 or more per day. The enlarged hemisphere exhibits hamartomatous characteristics with dysplastic and disorganized cell arrangements and atypical cell morphology. 55 Kenosia Avenue Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly. J Child Neurol. However, tumor risk in . We evaluated the images obtained at first MR imaging examination. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, often associated with cognitive or behavioral disabilities. Semin Pediatr Neurol. Some children may not have any seizures associated with hemimegalencephaly. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population. Anti-seizure medications usually are not effective and surgery is often recommended to control the seizures. NORD is a registered 501(c)(3) charity organization. We retrospectively reviewed MR imaging findings for patients with hemimegalencephaly in 2 institutions. The first case was characterized in 1949 by W. S. Alexander, who described developmental delay, megalencephaly, vomiting, and continuous . 'Royal Free Hospital'. Hemimegalencephaly (HME) is a rare neurological condition in which one-half of the brain, or one side of the brain, is abnormally larger than the other. Molecular pathogenesis of focal cortical dysplasia and hemimegalencephaly. All patients were hospitalized for intractable epilepsy between January 1998 and December 2005, and detailed examinations were performed to determine whether surgical treatment was indicated. One patient had no intellectual disability, while one had mild, and three severe intellectual disability. No other abnormal findings were detected in the subdural or subarachnoid space, except for an arachnoid cyst in the contralateral middle fossa in 1 patient. Accessibility Abnormal cerebellar folia were observed on the ipsilateral side in 6 patients (20%) and on the contralateral side in 3 patients (10%). The life expectancy is calculated by adjusting remaining life expectancy directly and not mortality . These surgeries are typically performed by a neurosurgeon trained in epilepsy surgery. Hemimegalencephaly: what happens when children get older? National Institute of Neurological Disorders and Stroke. Families can contact us directly, or be referred by their doctor or hospital. Crino PB. A and B, Coronal T2-weighted images demonstrate abnormal folia in both ipsilateral and contralateral cerebellar hemispheres. The right cerebral hemisphere was affected in 15 patients, and the left cerebral hemisphere, in 15 patients as well. Surface Studio vs iMac - Which Should You Pick? Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. Expectancy definition, the quality or state of expecting; expectation; anticipatory belief or desire. Suite 500 NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment. Cephalic Disorders Fact Sheet. Phone: 203-263-9938 Trigeminal nerve enlargement was detected on neither side. It may involve all or part of the cerebral hemispheres and can be bilateral or unilateral. Four patients had hemimegalencephaly associated with neurocutaneous syndromes, while one patient had isolated hemimegalencephaly. A minority might have seizure control with medicines, but most will need removal or disconnection of the affected hemisphere as the best chance. Hemimegalencephaly (HME), also know as unilateral megalencephaly, is a rare malformation characterized by the enlargement of one side of the brain. In either case, as a consequence of this size and structural differences, the enlarged brain tissue causes frequent seizures, often associated with cognitive or behavioral disabilities. The late Taeun Chang, M.D., former director of the Neonatal Neurology and Neonatal Neurocritical Care Program, and Monica Pearl, M.D., director of the Neurointerventional Radiology Program, developed the stroke-inducing approach several years ago as an alternative to traditional epilepsy surgery for infants less than 3 months of age. Skin involvement may take months or years after birth to appear. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. Hemimegalencephaly is a rare malformation involving one side of the brain. Submit only on articles published within 6 months of issue date. Clinical aspects of hemimegalencephaly by means of a nationwide survey. The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. 2008 Dec;15(4):190-3. doi: 10.1016/j.spen.2008.10.010. Your role and/or occupation, e.g. 18008 Bothell Everett Hwy SE # F, Bothell, WA 98012. Sasaki M, Hashimoto T, Furushima W, et al. Epub 2012 Apr 16. Dr. Andrade has nothing to disclose. It offers a websiteand Yahoo! <span> <h5>Objective</h5> <p>Drugresistant epilepsy (DRE) during the first few months of life is challenging and necessitates aggressive treatment, including . Some can attain near normal intellectual development if seizures are controlled. [10095][10096] It may occur alone or in association with other syndromes such asProteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome. Most are able to walk and talk, but not all. It can be isolated or associated with several neurocutaneous syndromes; less frequently, it also involves the brain stem and cerebellum. 1779 Massachusetts Avenue [10095] [10096] It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome . Four patients had hemimegalencephaly associated with neurocutaneous syndromes, while one patient had isolated hemimegalencephaly. Changing lives of those with rare disease. robert kraft granddaughter. The estimates confirm the trend for longevity: lifespans are getting longer. Olfactory nerve enlargement and cerebral deep and superficial vascular dilations were often observed, though optic nerve enlargement was rare. Complete or anatomic hemispherectomy involves disconnecting one side of the brain from the other and extracting the abnormal hemisphere. 2012 Jan-Feb;41(1):11-9. doi: 10.1067/j.cpradiol.2011.06.003. Note, GARD cannot enroll individuals in clinical studies. Disclaimer : The rough estimates of life expectancy were based on aggregated analysis of mortality data stratified by selected factors. National Library of Medicine Pediatr Radiol. Alobar and semilobar: usually lethal within the first year of life. In rats, Grandparents, siblings, and others may join the group only with the permission of the parents of the child first. The structure of the brain on the affected side may be markedly abnormal or show only subtle changes. 1900 Crown Colony Drive Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. Reduction in life expectancy can be up to 2 years for people with a diagnosis of idiopathic/cryptogenic epilepsy, and the reduction can be up to 10 years in people with symptomatic epilepsy. Hemimegalencephaly in a patient with a neurocutaneous syndrome. The disorder occurs because the cells of one hemisphere of the brain grow much more rapidly than do the corresponding cells of the other half of the brain (hamartomatous overgrowth of one hemisphere). Nervous system diseases are usually diagnosed and treated by neurologists. The youngest reported case is 41 days; however, we know an infant as young as 28 days has had hemispherectomy surgery for hemimegalencephaly. Children with this disorder may have a large . Epidemiology of hemimegalencephaly: a case series and review. Anyone from the U.S. can register with this free program funded by NIH. For children less than 3 months of age who have seizures that do not stop with seizure medications, this procedure can be possible. That's the largest decrease over a two-year span since the 1920s. 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Standard obstetric care and delivery. and H.O., with 19 and 21 years of experience with MR imaging, respectively). Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a part of a cerebral hemisphere. Sometimes, parents and healthcare providers notice that a baby has an enlarged head at birth or within the first few months of life. 1 in 100,000 births. The main characteristics of HI are hypopigmented skin areas along the lines of Blaschko, which appear as streaks and patches. This can help a child live long and have lesser seizures. Patients in whom seizure onset occurred after the 7 years of age had better seizure control and psychomotor development in adulthood than patients in whom seizure onset occurred in the first year of life. We would like to hear your feedback as we continue to refine this new version of the GARD website. The surgical procedure may involve "functional hemispherectomy" in which the nerves and tissue connecting one side of the brain to the other are severed, but the abnormal hemisphere remains within the skull. It does not mean that the average person living in 1200 A.D. died at the age of 35. [10095][10097] The cause of hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry. Asymmetric vascular dilations in the ipsilateral cerebral hemisphere, compared with the contralateral hemisphere, were noted in 12 of the 30 patients (40%). Dr. Lozano has received personal compensation for activities with Medtronic Inc., Boston Scientific Corp., Johnson & Johnson, and St Jude Medical. Submissions should not have more than 5 authors. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Download entire table "Life expectancy at birth and at age 65, by province and territory, three-year average". Ipsilateral olfactory nerve enlargement, dilated cerebral vessels, hemicerebellar hypertrophy, and abnormal architecture of the cerebellar folia were often observed, though ipsilateral optic nerve enlargement and hemihypertrophy of the brain stem were rare. There are several different forms of hydrocephalus: communicating hydrocephalus, non-communicating hydrocephalus or obstructive hydrocephalus, internal hydrocephalus, normal pressure hydrocephalus, and benign hydrocephalus. Changing lives of those with rare disease. Other data access options: Developers. Generate Your Personal Report. MR images were obtained on a 1T (Magnetom Impact; Siemens, Erlangen, Germany) or 1.5T imager (Signa; GE Healthcare, Milwaukee, Wis). Stopping seizures as soon as possible is imperative. Of these, 14 had confirmed hemi-hemimegalencephaly and 5 were dysplastic in quadrants other than the posterior. In 1865, the average person born in the area of present-day Pakistan could expect to live to just under the age of 26 years old. See more. Sequences included T1-weighted images (TR/TE, 300624/915 ms; FOV, 220 220 and 220 165; section thickness, 4- to 7-/0.5- to 1.7-mm gap; matrix, 256 224 and 256 256; NEX, 2), T2-weighted images (TR/TE, 40004200/95121 ms; FOV, 220 220 and 220 165; section thickness, 3-to 6-/0.5- to 1.7-mm gap; matrix, 256 224, 256 256, and 512 448; NEX, 2 or 3), fluid-attenuated inversion recovery (FLAIR) images (TR/TE/TI, 800010002/104158/22002500 ms; FOV, 220 220; section thickness, 5- to 6-/1- to 2.5-mm gap; matrix, 256 192, 256 256, and 512 432; NEX, 1), inversion-recovery images (TR/TE/TI, 40004210/3285/120150 ms; FOV, 220 220 and 220 165; section thickness, 3- to 4-/0.3- to 2-mm gap; matrix, 256 256 and 512 432; NEX, 2 or 3), and 3D high-resolution sagittal T1-weighted fast low-angle shot (gradient-echo images) (TR/TE/TI, 1970/3.9/110 ms; flip angle, 15; FOV, 315 315; effective section thickness, 1.2 mm; slab thickness, 177 mm; 3D partitions, 144 sections; matrix 512 228; NEX, 1). Talk to a trusted doctor before choosing to participate in any clinical study. We have presented various morphologic abnormalities occurring outside the involved hemisphere, detected on MR imaging in 30 patients with hemimegalencephaly. The current life expectancy for U.S. in 2023 is 79.11 years, a 0.08% increase from 2022.; The life expectancy for U.S. in 2022 was 79.05 years, a 0.08% increase from 2021.; The life expectancy for U.S. in 2021 was 78.99 years, a 0.08% increase from 2020. It can include various types of cortical dysplasias such as polymicrogyria , pachygyria . Our results can be explained by the findings of their study. This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. Web page addresses and e-mail addresses turn into links automatically. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria . C, Coronal T2-weighted image reveals asymmetry of the olfactory nerves (arrow), as well, with the left one slightly larger than the right at the exit zone (arrowhead). Am J Med Genet A. The UCLA Hemimegalencephaly Program. Traditionally, hemimegalencephaly has been considered a primary neuroblast migratory . Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature. The cerebrospinal fluid accumulates in the skull and puts pressure on the brain tissue. eCollection 2017. Neurology. Definition and History. In rare cases, syndromic hemimegalencephaly caninclude facial infiltrating lipomatosis,Proteus syndrome, and issues with collagen which may lead to hyperextensible joints and other challenges. Last update:September 30, 2012 www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm Accessed on:February 2, 2012. Hemimegalencephaly may occur as an isolated or sporadic brain malformation or it may be associated with other neurodevelopmental syndromes. Because it is a spectrum condition (meaning there is a broad range of presentation, from mild to severe) it can often go undetected in utero. Neuropathology suggests a disorder of cellular lineage. The cause of Hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry. and transmitted securely. Malformations of cortical development and epilepsy in adult patients. The prognosis for children with hemimegalencephaly is poor. For example, a person's life expectancy is affected by personal factors like family history, environment, diet, and even age and sex. Cytoarchitecture (how the neurons are stacked) is one type of deformity. Reductions in life expectancy are highest at the time of diagnosis and diminish with time. and apply to letter. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. . Clipboard, Search History, and several other advanced features are temporarily unavailable. Megalencephaly is characterized by an abnormally large, heavy, and poorly functioning brain. A and B, Coronal T2-weighted images demonstrate a diffusely enlarged right olfactory nerve from the exit to the distal portion (arrows). In some sources, it is equated to hemispheric infarction, whereas in other sources . Fax: 203-263-9938, Washington, DC Office Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. In addition, ictal ECD SPECT and cerebral 2-[18F]fluoro-2-deoxy-D-glucose positron-emission CT were performed in 10 patients. MLINY101121760-1 2012 Jun;21(5):377-84. doi: 10.1016/j.seizure.2012.03.009. Interpretation: Lobar: life expectancy may be normal but usually with severe developmental delay and . An 8-month-old girl with right hemimegalencephaly. J Child Neurol. Most children with hemimegalencephaly have some level of intellectual disability. CONCLUSION: Ipsilateral olfactory nerve enlargement, cerebral vascular dilations, cerebellar enlargement, and bilateral or ipsilateral abnormal architecture of the cerebellar folia are often associated with hemimegalencephaly. The estimates are not intended to predict exactly how many additional years an individual will live. No asymmetry of the brain stem is noted. 2005;20:337-41. 2005;65:777-78. Hemimegalencephaly: A Study of Abnormalities Occurring Outside the Involved Hemisphere, Olfactory nerve hypertrophy: a clue to the presence of ipsilateral megalencephaly, Adult hemimegalencephaly associated with multiple cerebral aneurysms, Klippel-Trenaunay syndrome with hemimegalencephaly, retroperitoneal lymphangioma and double inferior vena cava, Application of Automatic Segmentation on Super-Resolution Reconstruction MR Images of the Abnormal Fetal Brain, Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation, Diagnostic Utility of 3D Gradient-Echo MR Imaging Sequences through the Filum Compared with Spin-Echo T1 in Children with Concern for Tethered Cord, Thanks to our 2022 Distinguished Reviewers, Copyright American Society of Neuroradiology. delayed speech . Some may have homonymous hemianopsia, a visual impairment where half the visual field is lost. [10095][10096], 1900 Crown Colony Drive Specchio N, Kahane P, Pasquier B, Tassi L, Guerrini R. Resective surgery for epileptogenic dysembryoplastic neuroepithelial tumor in hemimegalencephaly. There are no reported cases of two or more children with hemimegalencephaly in one family. NORD is a registered 501(c)(3) charity organization. Design Epilepsy Behav Case Rep. 2017 Mar 1;7:45-48. doi: 10.1016/j.ebcr.2017.02.002. All of these findings were detected on the affected side, though abnormal cerebellar folia were noted on both sides. This condition is caused by a change in the genetic material (DNA). The International League Against Epilepsy has excellent resources for neurologists which should be reviewed here. Lippincott Williams & Wilkins. The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. Satoa N, Yagishitac A, Obad H, et al. Switzerland. Currently GARD aims to provide the following information for this disease: A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Hemimegalencephaly is a rare malformation involving one side of the brain. The site is secure. These syndromes arise as a result of complex genetic activities such as single or multiple gene mutations. It is often associated with polymicrogyria or agyria . We investigated morphologic abnormalities occurring outside the affected hemisphere by MR imaging in a large series of patients with hemimegalencephaly. Hemi-Hemimegalencephaly or Posterior Quadrantic Dysplasia, a Rare Cause of Focal Epilepsy in an Otherwise Healthy Young Woman: A Case Report. Hemimegalencephaly may also occur in association with Sotos syndrome and Alexander disease. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Yes, it is curable when received the right kind of attention from the correct doctor groups. J Child Neurol. Change a child's life forever. 'MacMoody'. Over the past 160 years, life expectancy (from birth) in the United States has risen from 39.4 years in 1860, to 78.9 years in 2020. Five patients were included in the study (three males, two females; mean age 23 y 9 mo [SD 6 y 1 mo], range 18-34 y). Hemihypertrophy can be mild to severe and can sometimes a risk of tumors of the kidneys and other organs. Hung PC, Wang HS. Thus, when detected, HME should prompt a search for other syndromic diagnoses. Examination by MRI is usually sufficient to confirm a suspected case of HME. What is the life expectancy for someone with epilepsy? heritage commons university of utah. Functional outcomes are closely tied to seizure control and whether the brain malformation is present on both sides of the brain. In: Rimoin D, Connor JM, Pyeritz RP, Korf BR. This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking. Enter multiple addresses on separate lines or separate them with commas. The researchers found life expectancy in the United States had been increasing for several decades, rising from 69.9 years in 1959 to 78.9 years in 2014. A, Axial FLAIR image shows an asymmetrically enlarged left optic nerve (arrow). Its team of pediatric surgical epileptologists, pediatric epilepsy neurosurgeon (Chima Oluigbo, M.D. This disorder affects more males than females. Sabry MA, Mochida GH, Walsh CA. Targeted gene expression analysis in hemimegalencephaly: activation of beta-catenin signaling. Unauthorized use of these marks is strictly prohibited. 2004;62:2214-20. [1] Its prevalence ranges from 1 to 3 cases/1000 epileptic children and 1-14% among those with cortical developmental abnormalities. 2002 May;17(5):373-84; discussion 384. All serial images obtained for each patient were reviewed at the same time. 1 min read; Jun 05, 2022; Bagikan : parade of homes matterport . United Nations projections are also included through the year 2100. The Hemimegalencephaly Family Support Network is the worlds largest support group for parents of children with hemimegalencephaly. The mutations causing these disorders can be inherited or occur randomly during fetal development. Fourteen patients were operated upon and, of these, 6 were seizure free for at least two years; 2 had at least an 85% reduction of seizures; 4 had a reduction of at least 50% in seizures; and 2 patients showed no significant change after surgery. Hemimegalencephaly (HME) is an uncommon congenital malformation of the brain characterized by the overgrowth of one hemisphere. Depending on the severity of the enlargement, clinical manifestations may include macrocephaly, colpocephaly, epilepsy, and impaired psychomotor development. HME is a rare neurological migration disorder resulting in the enlargement of one hemisphere. The Life Expectancy Calculator bases its calculations of your overall Life . Hung PC, Wang HS. J Clin Ultrasound. Merritts Neurology. Curr Probl Diagn Radiol. Cortical Malformation & Cephalic Disorder Foundation. [10095] Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Tammy Tsuchida Neurophysiologist Neonatal Neurologist, Monica Pearl Director, Neurointerventional Radiology ProgramRadiologist. 2004;45:1375-82. The Life Expectancy Calculator can determine your longevity based on details determined by your lifestyle. The left nerve is not enlarged. Fig 1. Genetic disorders of cerebral cortical development. Two patients required surgical treatment for seizures in childhood. That's life expectancy at birth, a figure dramatically influenced by infant mortalitypegged at the time as high as 30%. We do not capture any email address. 1779 Massachusetts Avenue Abstract. Crino PB. There are two main types of clinical studies: People participate in clinical trials for a variety of reasons. An enlarged head in infants and increased cerebrospinal fluid pressure are frequent findings but are not necessary for the diagnosis of hydrocephalus. It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome.