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Presented byDR. AZMERY SAIMADR.MOHTARAMA MOSTARIDR. CHITNARAYAN SAHResident (Neonatology)
BANGABANDHU SHEIKH MUJIB MEDICAL UNIVERSITY(BSMMU), DHAKA.
INTRODUCTION Heterogeneous group of disorders characterized by the
abnormalities of integument and CNS.
Mostly familial.
Defect in differentiation in primitive ectoderm (nervous system, eyeball, retina, and skin) .
• The disorders refered to as phakomatoses are notable for their dyspalstic nature and tendency to form tumor in various organs, particularly the nervous system.
• Bielschowsky observed these characteristics features in NF and TSC, and van der Hoeve called particular attention to these disorders and named the disease category the ‘phakomatoses’ (Greek phakos means mole or birthmark).
Various syndromes include-
• Neurofibromatosis• Tuberous Sclerosis• Sturge- Weber Syndrome• Von Hippel- Lindau Syndrome• Ataxia-telangiectasia • Linear nevus Syndrome• PHACE Syndrome• Hypomelanosis of Ito• Incontinentia pigmenti
NEUROFIBROMATOSIS
• NF comprises two distinct disorders, genes for which are located on different chromosomes.
• NF1 and NF2 are autosomal dominant.• 50% of cases having no family history.• NF1 is also called Von Recklinghausen disease.• NF2 is also called bilateral acoustic neurofibromatosis
• Cellular elements derived from the neural crest (i.e., Schwann cells, melanocytes, and endoneurial fibroblasts, the natural components of skin and nerves) proliferate excessively in multiple foci.
NEUROFIBROMATOSIS TYPE 1
• Most prevalent type• Incidence of 1/3,000• Autosomal dominant disorder• Over half the cases are sporadic, representing De novo
mutations.• Chromosome region 17q11.2• Encodes a protein also known as Neurofibromin.
DIAGNOSTIC CRITERIA OF NF TYPE 1
Diagnosed when any 2 of the following 7 features are present:• (1) Six or more Cafe-au-lait macules (macules >5 mm in
prepubertal patients and >15 mm in postpubertal patients )• (2) Axillary or inguinal freckling .• (3) Two or more iris Lisch nodules• (4) Two or more neurofibromas or 1 plexiform neurofibroma• (5) A distinctive osseous lesion such as Sphenoid dysplasia ,
thinning long bone cortex + pseudoarthrosis. • (6) Optic gliomas low-grade astrocytomas. • (7) A first-degree relative with NF- 1
Cafe-au-lait macules• Hallmark of neurofibromatosis
almost 100% of patients.• Present at birth but increase in
size, number, and pigmentation, especially during first few years of life.
• Predilection for the trunk and extremities but sparing the face.
Axillary or inguinal freckling• Multiple hyperpigmented areas
2-3 mm in diameter.• Skinfold freckling usually
appears between 3 and 5 years of age.
• Frequency greater than 80% by 6 year of age.
• High correlation with neurofibromatosis when six or more freckles are present in the axilla.( Crowe sign)
Two or more iris Lisch nodules• Pigmented hamartomatous nevus
(type of benign tumor) affecting iris.
• Best identified by a slit-lamp examination.
• Present in >74%• Prevalence increases with age.Only 5% of children <3 yr of age.42% among children 3-4 yr of age. 100% of adults ≥21 yr of age.
neurofibroma
• Neurofibroma- benign tumors arising from Peripheral nerve.
• Small, rubbery lesions with a slight purplish discoloration of overlying skin.
• Plexiform neurofibromas are usually evident at birth and result from diffuse thickening of nerve trunks that are frequently located in the orbital or temporal region of the face.
• Plexiform neurofibromas may produce overgrowth of an extremity and a deformity of the corresponding bone
• 5-13% risk of malignant transformation
Distinctive Osseous lesion• Sphenoid Dysplasia• Scoliosis is Most Common• Cortical thining of long bones
with or without pseudoarthrosis
SYSTEMIC FEATURES OF NF1
• Dysplasia of renal and carotid arteries• Systemic hypertension – Renal artery stenosis and
pheochromocytoma• Cerebral artery dysplasia- Moyamoya syndrome• Arterial aneurysms• Short stature and Macrocephaly with normal-sized ventricles• Precocious puberty may become evident in the presence or
absence of lesions of the optic chiasm and hypothalamus • Pheochromocytoma, Rhabdomyosarcoma, Leukemia, and
Wilms tumor
NEUROLOGICAL FEATURES OF NF1
Optic nerve Glioma• Most common CNS tumor• Seen 15% - Unilateral or
bilateral• Progressive vision loss, optic
atrophy, pain or proptosis• Precocious puberty- chiasmatic
optic nerve tumor• Children age >10 years with
NF-1 undergo annual ophthalmologic examinations
NEUROLOGICAL FEATURES OF NF 1
• Ependymomas, Meningiomas and Astrocytomas• Neurofibromas, Schwannomas
• Other MRI Abnormalities • Areas of increased T2 signal intensity (UBOs)• – 43 - 79 % of NF1 in pediatric age group in BG, Thalamus, brainstem and
cerebellum• – Most- multiple, no mass effect.• – Path- atypical glial infiltrate, and areas of microcalcificaiton, and areas of
dysmyelination and spongy changes in WM around lesion
NEUROFIBROMATOSIS 2 (NF-2)• Rarer condition• Incidence of 1/25,000• NF2 gene (also known as merlin or Schwannomin), located on
chromosome 22q1.11• Posterior subcapsular lens opacities are identified In about 50%
of patients with NF-2• Bilateral acoustic neuromas - most distinctive feature (In
contrast with NF-1 – optic gliomas).
DIAGNOSTIC CRITERIA OF NF TYPE 2
May be diagnosed when 1 of the following 3 Features is present:1. Bilateral vestibular schwannomas2. First degree relative with NF-2 and unilateral vestibular
schwannoma 3. First degree relative with NF-2 and any 2 of the following:
Meningioma, Schwannoma, Glioma, Neurofibroma, or Posterior subcapsular lenticular opacities
Bilateral Acoustic Neuromas• Hearing loss • Unsteadiness • Headache • Facial weakness • More commonly in 2nd and
3rd decade.
Subcapsular opacity- 50% of cases of NF-2
LABORATORY TESTS
• Genetic testing is available. Results can only tell if an individual is affected but cannot predict the severity of the disease.
IMAGING STUDIES
• MRI with gadolinium is the imaging study of choice in both NF1 and NF2 patients. MRI increases detection of optic gliomas, tumors of the spine, acoustic neuromas, and “bright spots”
TREATMENT
• Primarily supportive• AEDs for seizures• Surgery for accessible tumors• Orthopedic procedures for bony deformities• Routine MRI studies to screen for optic gliomas in non
symptomatic children
Schwannomatosis• Is a more recently recognized entity characterized only by
the occurance of schwannomas on cranial and spinal nerves other than the vestibular nerve.
• Often manifests with pain or nerve compression.
• The gene responsible designated INI1 (SMARCB1) and encodes a protein component of a chromatin remodeling complex. Located on chromosome 22.
• Symptomatic tumors are treated surgically.
ATAXIA-TELANGIECTASIA• Autosomal recessive disorder,• Gene associated with AT (ATM) is a large gene located at
chromosome 11q22-23, • Prevalence - 1 in 40,000 to 1 in 100,000.• Begins in early childhood as a slowly progressive ataxia. • Telangiectasias (dilated small blood vessels),
immunodeficiency, and cellular sensitivity to ionizing radiation develop later.
CUTANEOUS FEATURES
• Telangiectasias - develop at age of 3 to 6 years.
• Hypertrichosis and occasional gray hairs.• Progeric changes such as poikiloderma, loss of subcutaneous
fat, and sclerosis• Abnormal radiosensitivity- basal cell carcinomas in young • Cutaneous granulomas
NEUROLOGICAL FEATURES
• Ataxia - first manifestation of AT, appears in the second year of life.
• Truncal ataxia predominates, require a wheelchair by the age of 12 years.
• Limb ataxia, intention tremor, and segmental myoclonus• Choreoathetosis , Progressive dystonia of the fingers may
appear in second and third decades of life. • Abnormal eye movements - impaired voluntary ocular motility;
nystagmus and apraxias of voluntary gaze such as disorders of smooth pursuit and limitation of upgaze
• Progressive distal muscular atrophy and fasciculations, • Loss of vibration and position sense
IMMUNODEFICIENCY AND CANCER RISK
• 10% to 15% of patients with AT develop a lymphoid malignancy by early adulthood.
• T-cell malignancies are more common than B-cell tumors• Dysgerminoma, gastric carcinoma, liver carcinoma,
retinoblastoma, and pancreatic carcinoma.• Nonlymphoid tumors, primarily carcinomas, represent
approximately 20% of all malignancies. • Cerebellar astrocytoma, medulloblastoma, and glioma
• Frequent sinopulmonary infection- Recurrent or chronic sinusitis, bronchitis, pneumonia, and chronic progressive bronchiectasis
LABORATORY DIAGNOSIS• α-fetoprotein level - elevated in all patients with AT screening
diagnostic test.
• Approximately 80% have decreased serum immunoglobulin—IgA, IgE, or IgG, especially the IgG2 subclass
• Karyotype: high incidence of chromosomal breaks, especially on chromosome 14.
• Brain imaging - cerebellar atrophy.
Axial section shows cerebellar atrophy
TREATMENT• Supportive, no effective treatment to date • Surveillance for infections and neoplasms • Infections should be treated vigorously• IVIG• Minimize radiation as may induce further chromosomal damage
and lead to neoplasms
PROGNOSIS• 67% of children die by age 20, typically from infection or
neoplasm
TUBEROUS SCLEROSIS (Bourneville’s disease)
• TSC is an extremely heterogeneous disease with a wide clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and a lack of seizures, often within the same family.
• Disease affects many organ systems other than skin and brain, including heart, kidney, eyes, lungs, and bone.
• Prevalence of 1 per 6000 to 9000 individuals.
• In infants, seizures and cardiac involvement presenting signs.
• Whereas dermatological, pulmonary, or renal involvement may lead to diagnosis in older individuals.
• Autosomal dominant trait with variable Expression.• Spontaneous genetic mutations occur in 65% of the Cases.• Molecular genetic studies have identified 2 foci
• TSC1 and TSC2 genes are tumor suppressor Genes.
• Both are involved in a key pathway in the cell that regulates protein synthesis and cell size.
• Loss of either tuberin or hamartin results in the formation of numerous benign tumors (Hamartomas)
DIAGNOSTIC CRITERIA
A. GENETIC DIAGNOSTIC CRITERIA• Identification of Mutation in either TSC1 or TSC2• 10% to 25% of TSC patients have no mutation ( normal result
does not exclude TSC)
B. CLINICAL DIAGNOSTIC CRITERIA• Definite diagnosis: at least two major or one major plus 2 minor
features
Major features1. Cortical tuber.2. Subependymal nodules3. Subependymal giant cell astrocytoma4. Facial angiofibromas 5. Ungual or periungual fibromas6. Hypomelanotic macules (≥3)7. Shagreen patch8. Multiple retinal hamartomas9. Cardiac rhabdomyoma10. Renal angiomyolipomas 11. Pulmonary lymphangioleiomyomatosis.
Minor features:1. Cerebral white matter migration line.2. Multiple dental pits3. Gingival fibroma.4. Bone cysts.5. Retinal achromatic patch.6. Confetti skin lesions.7. Nonrenal hamartomas.8. Multiple renal cysts.9. Hamartomatous rectal polyps.
• Seizures - various types occur in 80% to 90% of patients.• Most common cause of infantile spasms • Cognitive impairment & autism spectrum disorder.
• Neuropathological lesions of TSC include subependymal nodules (SENs), cortical and subcortical hamartomas (tubers), areas of focal cortical hypoplasia, and heterotopic gray matter.
NEUROLOGICAL FEATURES
• Seizures of various types occur in 80% to 90% of patients. Most develop during the first year postpartum, which is an indicator for autism and poor cognitive development.
• TSC is the most common cause of infantile spasms, and one-third of children with TSC develop them.
• Children with infantile spasms have more cortical lesions demonstrated by magnetic resonance imaging (MRI) and are more likely to exhibit long-term cognitive impairment.
• For many, vigabatrin has been a more effective treatment option than adrenocorticotropin hormone (ACTH).
• The prevalence of autistic spectrum disorders is 25% to 50% and equal between boys and girls.
• Subependymal giant-cell astrocytomas (SEGAs) develop in 6% to 14% of patients with TSC.
• Unlike the more common cortical tubers and SENs, giant-cell astrocytomas can enlarge and cause symptoms of increased intracranial pressure.
• Giant-cell tumors are usually benign but locally invasive, and early surgery can be curative.
FLAIR image shows cortical tuber along with subependymal nodule
Cortical tubersLocation- Parietal, occipital
Sub ependymal nodules• Location-Caudothalamic
groove of lateral ventricle.
White matter lesions• Location-alone lines of
neural migration
SEGA• 6-14%
DERMATOLOGIC AND DENTAL FEATURES
Hypomelanotic macules (Ash leaf spots)• Observed in about 90% of
individuals• Typically appear at birth or
infancy
Facial Angiofibromas (adenoma sebaceum)• About 75% of TSC patients• Between ages 2 and 5 years.
Ungual fibromas• About 20% overall • Adults
Shagreen patch• Shagreen patch consists of
roughened,raised lesion with orange peel consistency located in the lumbosacral region.
• Seen in 50% of individuals• Onset in the first decade
CARDIOVASCULAR FEATURES
Cardiac rhabdomyoma• Major feature• Benign tumors of heart that
are rarely observed in non-TSC–affected individuals
• Most frequently located in the apex of left ventricle.
• Observed in TSC-affected individuals during fetal life
• Prenatal presence of a cardiac rhabdomyoma is associated with a 75–80% risk of TSC
Pulmonary features• Lymphangioleiomyomatosis• Interstitial expansion of the
lung with benign-appearing smooth muscle cells that infiltrate all lung structures
• 30–40% of female TSC patients
• Multifocal micronodular pneumocyte hyperplasia (MMPH)
• Clear cell tumor of the lung
Renal features• Angiomyolipomas• Benign tumors composed of
vascular, smooth muscle, and adipose tissue
• 75- 80% of TSC patients older than 10 years of ages.
• By the third decade of life,it may cause lumber pain & hematuria,rarely cause sudden retroperitonial bleeding.
“ Confetti” skin lesions• Numerous 1- to 3-mm
hypopigmented macules scattered over arms and legs
• 3% in children to about 58% overall
Dental enamel pits• Multiple, randomly
distributed pits in dental enamel
• 100% of adult TSC patients
Intraoral fibromas• Occur in about 20–50% of individuals • Gingival fibromas• May also be observed on the buccal or labial mucosa and even the
tongue
OPHTHALMOLOGIC FEATURESMultiple retinal hamartomas• 30–50% of TSC• Do not cause problems with
vision
Retinal achromic patch• Areas of hypopigmentation
on the retina• 39% of TSC patients
Endocrine features• Hamartoma • Adrenal angiomyolipoma • Thyroid papillary adenoma• Angiomyolipoma or
fibroadenoma in the pituitary gland, pancreas, or gonads
Gastrointestinal features• Liver angiomyolipomas• Hamartomatous rectal polyps
MANAGEMENT• MRI of Brain every 1-3 years,renal imaging(USG,CT
orMRI) done every 1-3 years & neuradevelopmental assessment in the 1st decade.
• Management;• MRI of brain every 1-3 years,renal imaging(USG,CT or
MRI) every 1-3 years &neurodevelopmental assessment.
PHACE SYNDROME• Female predominance.• Unknown underlying pathology.• 29 children with PHACE Syndrome 44% had language
delay,36% gross motor delay,8% fine motor delay,52% had abnormal neurologic exam with speech abnormalities.
• Propanolol is starting for the treatment of infantile hemangiomas associated with PHACE Syndrome.
STURGE WEBER SYNDROME• Sturge-Weber syndrome (SWS) is a sporadic vascular disorder
and consists of a constellation of symptoms and signs including a facial capillary malformation (port-wine stain), abnormal blood vessels of the brain (leptomeningeal angioma) and abnormal blood vessels of the eye leading to glaucoma..
• Incidence 1/50,000 live birth.
ETIOLOGY• Somatic mutation of GNAQ gene.• Anomalous development of the embryonic vascular bed in the
early stages of facial and cerebral development.• Low flow angiomatosis of the leptomeninges appears to result
in a chronic hypoxic state leading to cortical atrophy and calcifications.
CUTANEOUS FEATURES
Nevus (port-wine)• Involves the upper face and
eyelid .• Usually obvious at birth; • Reactive hypertrophy of
adjacent bone and connective tissue
• Tends to be unilateral.• Incidence 8-33% with SWS.
OCULAR FEATURES
Glaucoma • Risk has two age peaks, first in infancy and second in late
childhood. • Periodic measurement of the intraocular pressure is mandatory,
particularly when the nevus is near the eye.
• Amblyopia and buphthalmos (enlarged globe) • Choroid angiomas or heterochromasia of the iris ipsilateral to
the nevus.
NEUROLOGICAL FEATURES
• Epileptic seizures- 75% to 90% and develop in most patient in the first year of life.
• Seizure type typically focal tonic –clonic contralateral to the side of the facial capillary malformation.
• Intellectual disability – present at least 50% in late childhood.
• Focal neurological deficits- Transient stroke-like episodes or visual defects, headache,hemiparesis.
• Developmental delay.
DIAGNOSTIC STUDIES
• Skull radiograph –Intracranial calcification in occipitoparietal region.
• MRI of brain ; leptomeningeal angioma. • White matter abnormalities are common and are thought to be a
result of chronic hypoxia. • Often, atrophy is noted ipsilateral to the leptomeningeal
angiomatosis.• Calcifications can be seen best with a head CT• Ophthalmologic evaluation examining for glaucoma.
Functional imaging• PET- reduced metabolism of the brain adjacent to the
leptomeningeal lesion • SPECT- reduced perfusion of the affected brain. • Both PET and SPECT often reveal vascular changes extending
well beyond the area of abnormality depicted by CT
Cerebral arteriography – • Useful in atypical patients or prior to surgery for epilepsy. • Veins are more abnormal than the arteries, with enlarged,
tortuous, subependymal, and medullary veins and sparse superficial cortical veins.
• Gadolinium-enhanced axial T1 fluid-attenuated inversion
• recovery (FLAIR) images of a 15 mo old with Sturge-Weber syndrome
• shows leptomeningeal enhancement in left hemisphere.
• CT scan of a patient with Sturge-Weber syndrome
• showing unilateral calcification and underlying atrophy of a cerebral hemisphere.
TREATMENT
• symptomatic and multidisciplinary
• Treat seizure
• Resection of a localized brain vascular lesion or hemispherectomy
• Prevent stroke • Because of the risk of glaucoma, regular measurements of intraocular
pressure with a tenonometer is indicated.
• Pulsed-dye laser therapy often provides excellent clearing of the port-wine stain,
VON-HIPPLE LINDAU DISEASE• Autosomal dominant trait with variable penetrance and delayed
expression
• Incidence of 1/36,000 newborn.
• Caused by germ line mutations in the VHL tumor suppressor gene located on 3p25–26
• Affects many organs, including the cerebellum, spinal cord, retina, kidney, pancreas, and epididymis
• Median age of presenting first clinical feature is 20-25 years.• Earliest detected manifestation – capillary haemangioma of
retina.• Probability of developing retinal capillary haemangioma and
CNS haemangioblastoma is 80%• 60% probability for developing RCC• Both sexes affected equally
NEUROLOGICAL FEATURES
Hemangioblastomas - cerebellum in approximately half of patients , followed by spinal and medullary sites. • Begin in the second decade of life.• Symptoms of cerebellar and brainstem hemangioblastomas- headache,
ataxia, nausea and vomiting, and nystagmus • Spinal hemangioblastomas - conus medullaris and the cervicomedullary
junction are most common sites –present with abnormalities of proprioception and disturbances of gait and bladder dysfunction.
Endolymphatic sac tumors - 10% to 15• Sometimes they are bilateral. • Symptoms - abrupt change in hearing accompanying hemorrhage or
vertigo and tinnitus
• Magnetic resonance imaging showing hemangioblastomas in cerebellum and in spinal cord.
OCULAR FEATURES
Retinal hemangioblastomas• Seen in 50-60% • 50% multiple• Usually asymptomatic
• Hemorrhage leading to retinal injury and detachment,
• Glaucoma, uveitis, macular edema, and sympathetic ophthalmitis lead to visual loss.
SYSTEMIC FEATURES
• Renal Cysts - present in more than half of individuals • RCC- develops in more than 70% of patients and is the leading
cause of death. • Pheochromocytoma - occur in 7% to 19% , may be bilateral
and occur outside the adrenal glands. • Cyst adenomas of pancreas and epididymis
Management
• Geetic counselling.• Regular follow-up and appropriate imaging studies are
necessary to identify lesions that may be treated at an early stage.
• For cystic cerebellar lesion with a vascular mural nodule; Total surgical removal of the tumor is curative.
• Retinal angiomas are treated with photocoagulation and cryocoagulation, and both have produced good results.
HYPOMELANOSIS OF ITO• Incontinentia pigmenti achromians
• Heterogeneous and complex neurocutaneous disorder affecting skin, brain, eye, skeleton, and other organs.
• Third most frequent neurocutaneous disease after NF1 and tuberous sclerosis complex.
• HI is usually a sporadic disorder
CUTANEOUS FEATURES
Hypopigmented whorls, streaks, and patches• Present at birth and tend to
follow Blaschko lines,• Usually multiple, involve
several body segments• Unilateral or bilateral.
NEUROLOGICAL FEATURES
• Neurological abnormalities - 50% to 80% • Seizures - Approximately half of patients with HI have seizures,
usually with onset in the first year of life. Focal seizures are most common.
• Intellectual disability • Macrocephaly
IMAGING
• Generalized cerebral or cerebellar hypoplasia• Neuronal migration anomalies, hemimegalencephaly, and
lissencephaly. • Extensive periventricular white-matter lesions , Small
periventricular cysts and gray-matter heterotopias • About a third of patients with HI have normal cranial MRI
studies.
SYSTEMIC FEATURES
• Seen in 50% to 70% of patients 1. Ocular - microphthalmia, , corneal opacities, cataract, optic
atrophy, retinal detachment, and pigmentation anomalies of the retina.
2. Musculoskeletal anomaly – hemihypertrophy, short stature, pectus carinatum and excavatum, cleft palate, butterfly vertebrae, scoliosis, and clinodactyly and polysyndactyly.
3. Dental anomalies- conical or hypoplastic teeth, hypoplastic dental enamel, and cleft lip and palate.
4. Cardiac defects - tetralogy of Fallot, pulmonary stenosis, and septal defects.
Diagnosis
• Diagnosis made by clinical evaluation• careful evaluation with a Wood's lamp may help confirm the
diagnosis.• Additional genetic testing.• CT scan or MRI shows structural abnormalities.
Management
• Counselling • Symtomatic• The characteristic skin abnormality (hypopigmentation) of
hypomelanosis of Ito tends to darken or fade without treatment. Some individuals may use cosmetics to hide or darken these areas.
INCONTINENTIA PIGMENTI (Bloch-Sulzberger syndrome)
• This rare, heritable, multisystem ectodermal disorder features dermatologic, dental,CNS and ocular abnormalities.
• The phenotype is produced by functional mosaicism caused by random X-inactivation of an X-linked dominant gene that is lethal in males (IKBKG [inhibitor of kappa B kinase gamma, previously NEMO] gene).
• Female >>male
CUTANEOUS FEATURES
• Characteristic pigmentation occurs on the skin.
• Clinically classified into 4 stages.1. Inflammatory stage (blister)- neonatal period 2. Verrucous stage - infancy 3. Pigmented stage - childhood and adulthood 4. Regression stage (atrophic and hypopigmented).
• The 3rd or pigmentary stage is the hallmark of incontinentia pigmenti.
• Blisterlike and verrucous stage
• Hyperpigmented stage
OCULAR FEATURES
• Develop in about one third cases.
• Strabismus is most common followed in frequency by cataract, glioma and microphthalmos ,neovascularization, optic nerve atrophy.
• Increased risk of retinal detachment -most likely to occur in early childhood.
Dental features
• Dental anomalies, which are present in up to 80% of patients and are persistent throughout life, consist of
• Late dentition,• hypodontia,• conical teeth, and impaction.
NEUROLOGICAL FEATURES
• seizures,• intellectual disability,• hemiplegia,• hemiparesis, • Spasticity• microcephaly• cerebellar ataxia, • In up to 30% of affected children.
Diagnosis• Diagnosis of incontinentia pigmenti is made on clinical
grounds,• Wood’s lamp examination may be useful in older children and
adolescents to highlight pigmentary abnormalities.• molecular testing.
Linear Nevus Syndrome
• sporadic condition is characterized by a facial nevus and neurodevelopmental abnormalities.
• The nevus is located on the forehead and nose and tends to be midline in its distribution.
• It may be quite faint during infancy but later becomes hyperkeratotic, with a yellow-brown appearance.
Linear Nevus Syndrome
• Two thirds of the patients with linear nevus syndrome demonstrate associated neurologic findings, including cortical dysplasia, glial hamartomas, and low-grade gliomas. Cerebral and cranial anomalies, predominantly hemimegalencephaly and enlargement of the lateral ventricles, were reported in 72% of cases.
• The incidence of epilepsy has been reported as high as 75% and intellectual disability as high as 60%.
• Focal neurologic signs including hemiparesis and homonymous hemianopia may also be seen.
REFERENCES
• Nelson Test book of pediatrics 20th edition.• Swaiman neurology.• Uptodate. Com• Medscape. Com• Most of the figure and imaging from patient of paediatric
neurology department, BSMMU
