tuberus sclerosis
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Transcript of tuberus sclerosis
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Case PresentationDr.Yassin
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History
• 22 months old girl .
• K/C of tuberous sclerosis, cardiac rhabdomyoma, seizure disorder.
• Admitted with uncontrolled seizure.
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Perinatal history
• nearterm , product of C-section, twin B, apgar score 8 and 8 at 1st and 5th .
• Discharge with mother in good condition.
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Past History
• Past history: patient presented initially at age of 6 months with Hx of multifocal myoclonus (flexion spasm) mainly in the upper extremities, unresponsiveness, lasting for 1 min followed by post-ictal sleep.
• Diagnosed to have TSC .started on tegrtol and phenobarbitone. At age of one year tegretol was replaced with keppra.
• Then became generalized, with staring lastinf for few seconds no post ictal 5-7 times aday
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Medication
• Keppra 350 mg 12hourly. 67mg/kg/day
• Phenobarbitone 65 mg daily. 6mg/kg/day
• Viagabatrin 250 mg 12 hourly (just started)
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Developmental History
• Says mama and dada.• No concern on vision and hearing.• Crawal, walking holding forniture unsteady
gait.• Wave byebye.• Respond to her name.• Not following simple order.
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Family history
• Consangious marriage.
• Twin A also tuberous sclerosis.
• Family history of brain tumor.
• No family history of seizure disoder.
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On exam
• Looks well , not dysmorphic
• Wt:10.4kg <5th Ht:89 cm.50th
• HC: 45.5 cm 5-10th
• 4 hypo pigmented lesion on left inner and outer thigh and trunk ranging from 5 mm to 2 cm.
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On exam
• CNS: normal power, tone ,reflexes,and cranial nerves.
• Unsteady gait.
• CVS: s1+s2+0
• RS: chest clear.
• GIT: abdomen soft no organomegally.
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Investigation (in the past)
• ECHO: small rhabdomyoma.
• Renal US: WNL.
• EEG: slowing 2-3 hz slow waves complexes at biparital reigon.
• Brain CT: multiple faint hypodense in left parietal area.
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Investigation • Renal US: WNL.
• Brain MRI:multiple subependymal hemartomas and subcortical tubers associated with broad gyri. Three of the subependymal hemartoms
• Findings are suggestive of tuberous sclerosis .
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Short talk on
Tuberous sclerosis
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Tuberous sclerosis complex (TSC)
• One of the neurocautenous syndroms.
• multisystemic disease affects many organ systems other than the skin and brain, including the heart, kidney, eyes, lungs, and bone.
• a prevalence of 1/6,000 newborns.
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Genitics
• inherited as an autosomal dominant .• Spontaneous mutations occur in 2/3 of the
cases.
• Molecular genetic studies have identified 2 foci for TSC: the TSC1 gene is located on chromosome 9q34, and the TSC2 gene is on chromosome 16p13.
• The TSC1 gene encodes a protein called hamartin. The TSC2 gene encodes the protein tuberin.
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Clinical Manifestations
• Definitive TS is diagnosed when at least 2 major
• or 1 major plus 2 minor features are present .
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MAJOR FEATURES OF TUBEROUS SCLEROSIS COMPLEX
• Cortical tuber• Subependymal nodule• Subependymal giant cell astrocytoma• Facial angiofibroma or forehead plaque• Ungual or periungual fibroma (nontraumatic)• Hypomelanotic macules (>3)• Shagreen patch• Multiple retinal hamartomas• Cardiac rhabdomyoma• Renal angiomyolipoma• Pulmonary lymphangioleiomyomatosis
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MINOR FEATURES OF TUBEROUS SCLEROSIS COMPLEX
• Cerebral white matter migration lines• Multiple dental pits• Gingival fibromas• Bone cysts• Retinal achromatic patch• Confetti skin lesions• Nonrenal hamartomas• Multiple renal cysts• Hamartomatous rectal polyps
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Eye lesion
• Retinal lesions consist of 2 types: • 1- hamartomas (elevated mulberry lesions
or plaquelike lesions).• 2- white depigmented patches (similar to
the hypopigmented skin lesions).
• In KKSH :report two infants with tuberous sclerosis who initially were considered to have retinoblastoma
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CNS lesions• The characteristic brain lesion is a cortical tuber ..
• Subependymal nodules are lesions found along the wall of the lateral ventricles where they undergo calcification and project into the ventricular cavity, producing a candle-dripping appearance.
• these benign lesions can grow into subependymal giant cell astrocytomas (SEGAs).
• These tumors can grow and block the circulation of cerebrospinal fluid (CSF) around the brain and cause hydrocephalus
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other neurologic manifestations• cognitive impairment.• autism spectrum disorders.• Epilepsy .• infantile spasms and a hypsarrhythmic
electroencephalogram.
• seizures may be difficult to control and, at a later age, they may develop into myoclonic epilepsy
• • Drug of choice for infantile spasms associated
with TSC: is vigabatrin.• Topiramate, lamotrigine , valproate, and
(ACTH)/steroids are also useful.
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Skin Lesions • (ash leaf) :More than 90% of cases show the
typical hypomelanotic macules an on the trunk and extremities.
• a Wood ultraviolet lamp used for better view.
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Skin Lesions• Facial angiofibromas develop in late
childhood .
• they appear as tiny red nodules over the nose and cheeks .
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Skin Lesions• A shagreen patch is also characteristic of
TSC and consists of a roughened, raised lesion with an orange-peel consistency located primarily in the lumbosacral region
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Skin Lesions• Subangual fibroma: During adolescence or
later, small fibromas or nodules of skin may form around fingernails or toenails in 15-20% of the TSC patients
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Cardiac lesion
• Approximately 50% of children with TSC have cardiac rhabdomyomas.
• although they can cause congestive heart failure and arrhythmias, they tend to slowly resolve spontaneously.
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Kideny lesion
• angiomyolipomas
• The kidneys in 75-80% of patients >10 yr of age have angiomyolipomas that are usually benign tumors.
• Single or multiple renal cysts .
• End-stage renal disease .
• Fanconi Syndrome (2 case report in KSA)
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treatment• Epilepsy: anti-epeleptic.• focal cortical resection, corpus callosotomy, or
vagus nerve stimulation.• Infantile spasm: vigabatrin.• Rhabdomyomas: supportive.• Angiomyolipomas: nothing. unless lesion
becomes larger than 4 cm . transcatheter tumor embolization.
• Subependymal nodules: nothing• (SEGAs) : need surgical intervention??.• everolimus can be used if surgery failed.
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Follow up
• brain MRI every 1-3 yr.
• renal imaging (ultrasound, CT, or MRI) every 1-3 yr.
• neurodevelopmental monitoring.
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Take home message
• Diagnosis of TSC relies on a high index of suspicion when assessing a child with infantile spasms or myoclonic epilepsy.
• As many as 50% of people with TSC have normal intelligence no more triad
• Don’t forget to exam the eye after vigabatrin
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THANK YOU