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Research ArticleOriginal Article
Open Access

Central nervous system manifestations of tuberous sclerosis complex

A single centre experience in Qatar

Munira Aden, Mahmoud O. Fawzi, Debra Prosser, Muhammad Ather, Mehak Raja, Moegamad A. Ederies, Khalid Al-Kharazi and Ata U. Maaz
Saudi Medical Journal November 2024, 45 (11) 1245-1252; DOI: https://doi.org/10.15537/smj.2024.45.11.20240444
Munira Aden
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
BSc, MSc
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Mahmoud O. Fawzi
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
MBBCH, ABP
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Debra Prosser
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
MSc
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Muhammad Ather
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
DPM, MRCPsych
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Mehak Raja
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
ArBHS, FRCR
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Moegamad A. Ederies
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
FRCS, FRCR
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Khalid Al-Kharazi
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
MD, FRCSEd
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Ata U. Maaz
From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
MBBS, FRCPCH
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  • For correspondence: [email protected]
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Article Figures & Data

Tables

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    Table 1

    - Patients and disease characteristics (N=38).

    Characteristicsn (%)
    Gender
    Male19 (50.0)
    Female19 (50.0)
    Age at diagnosis, median (range)4 (0-72)
    Age group
    Up to 4 months20 (52.6)
    4-12 months14 (36.8)
    Over 12 months4 (10.5)
    Diagnosis
    Qatar24 (63.1)
    Elsewhere14 (36.9)
    Family history
    Yes10 (26.3)
    No28 (73.7)
    Genetic analysis
    Mutation in TSC11 (2.6)
    Mutation in TSC233 (86.8)
    Genetic studies negative4 (10.5)
    Presentation
    Infantile spasms14 (36.8)
    Seizures (other than infantile spasms)18 (47.3)
    Developmental delay5 (13.1)
    Cardiac rhabdomyoma8 (21.0)
    Hypopigmented spots5 (13.1)
    Major criteria for TSC
    Hypomelanotic nodules29 (76.3)
    Angiofibroma20 (52.6)
    Ungual fibroma0 (0.0))
    Shagreen patch7 (18.4)
    Retinal hamartoma5 (13.1)
    Cortical dysplasia29 (76.3)
    Subependymal nodules37 (97.3)
    SEGA10 (26.3)
    Cardiac rhabdomyoma16 (42.1)
    LAM0 (0.0)
    AML22 (57.8)
    Minor criteria for TSC
    Confetti lesions4 (10.5)
    Dental enamel pits2 (5.3)
    Intra-oral fibroma2 (5.3)
    Retinal achromic patch0 (0.0)
    Multiple renal cysts29 (76.3)
    Non-renal hamartomas4 (10.5)
    Neuro-imaging features
    Tubers37 (97.3)
    SEN37 (97.3)
    SEGA10 (26.3)

    Values are presented as numbers and percentages (%).

    TSC: tuberous sclerosis complex, SEGA: subependymal giant cell astrocytoma, LAM: lymphangioleiomyomatosis, AML: angiomyolipoma, SEN: subependymal nodules

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      Table 2

      - Presenting clinical and radiological features for all patients with tuberous sclerosis.

      No.GenderAge at diagnosis (months)PresentationFHGeneticsEpilepsy (E-CHESS score)DDLDTubers (dominant lobe)Mineral-izationSENSEGA
      1.M1Fits, RMNoTSC2Yes (7)YesYesYes (right temporal lobe)PartialForamen of Monro (b/l)Yes
      2.M6FitsNoTSC2Yes (8)YesYesYes (right Frontotemporal lobe)NoForamen of Monro (L)Yes
      3.F6Fits, DDNoTSC2Yes (7)YesYesYes (none)NoFrontal horn (R)Yes
      4.F4IS, HSNoTSC2Yes (8)YesYesYes (both frontal lobes)NoForamen of Monro (b/l)No
      5.M3Fits, LDNoTSC2Yes (7)YesYesYes (none)PartialFrontal horn (R)Yes
      6.F0 NoTSC2NoNoNoYes (both frontal lobes)NoForamen of Monro (R)Yes
      7.M11ISNoTSC2Yes (11)YesNoYes (left temporoparietal lobes)NoLateral ventricles (b/l)No
      8.M0ISNoTSC2NoNoNoYes (none)NoForamen of Monro (R)No
      9.M1RMYesTSC2Yes (7)YesYesYes (right Parieto-occipital lobe)PartialForamen of Monro (L)No
      10.M7ISYesTSC2Yes (8)YesYesYes (none)PartialForamen of Monro (b/l)No
      11.F12HSYesTSC2NoNoYesYes (none)NoFrontal horn (R)No
      12.F1FitsYesTSC2Yes (8)YesYesYes (none)PartialFrontal horn (left)No
      13.M6IISYesTSC2Yes (9)NoYesYes (none)PartialLateral ventricles (b/l)No
      14.M2FitsYesTSC2Yes (8)YesYesYes (none)PartialLateral ventricles (b/l)No
      15.M10ISNoTSC2Yes (10)YesYesYes (none)PartialForamen of Monro (L)No
      16.M2ISNoTSC2Yes (8)YesYesYes (left frontal lobe)PartialLateral ventricles (b/l)No
      17.F12FitsNoTSC2Yes (8)YesYesYes (none)NoForamen of Monro (b/l)Yes
      18.M4FitsNoTSC2Yes (8)YesYesYes (none)NoForamen of Monro (b/l)Yes
      19.F9DD, RM, ISNoTSC2Yes (11)YesYesYes (left temporal lobe)PartialLateral ventricles (b/l)No
      20.F1HS, RM, ISNoTSC2NoNoNoYes (none)PartialLateral ventricles (b/l)No
      21.F2IS, RMNoTSC2Yes (8)YesYesYes (none)NoForamen of Monro (L)Yes
      22.M72FitsNoTSC2Yes (9)NoNoYes (left temporal lobe)PartialForamen of Monro (L)Yes
      23.F2ISNoTSC2Yes (8)YesYesYes (none)NoForamen of Monro (b/l)No
      24.F24FitsNoTSC2Yes (6)YesYesYes (left frontal lobe)PartialFrontal horn (L)No
      25.M1RM, LDYesTSC2NoYesYesYes (all left sided lobes)PartialLateral ventricles (b/l)No
      26.F2IS, DDNoTSC2Yes (9)YesYesYes (none)NoFrontal horn (R)Yes
      27.M4FitsNoTSC2NoYesYesYes (none)PartialForamen of Monro (R)Yes
      28.F11FitsYesTSC2Yes (6)YesYesYes (none)NoLateral ventricles(B/l)No
      29.F2RM, HSNoTSC2Yes (9)NoNoYes (none)NoNoneNo
      30.F9FitsNoTSC2Yes (7)NoNoYes (none)NoFrontal horn (R)Yes
      31.M3FitsNoTSC2Yes (8)NoNoYes (none) Lateral ventricles (b/l)No
      32.F12Fits, LDYesNoneYes (9)NoYesYes (left parietal lobe)PartialLateral ventricles (b/l)No
      33.M36FitsYesNoneNoNoNoYes (none)NoForamen of Monro (b/l)No
      34.M0HSNoTSC2NoNoNoYes (none)PartialForamen of Monro (b/l)Yes
      35.M36DDNoNoneNoNoYesYes (right frontal lobe)PartialForamen of Monro (b/l)No
      36.F9FitsNoTSC 1Yes (5)NoNoYes (both frontal lobes)NoNoneNo
      37.F2RM, ISNoTSC2Yes (8)NoNoYes (left frontal lobe)NoLateral ventricles (b/l)No
      38.F8FitsNoNoneYes (8)YesYesYes (left frontal and right occipital lobes)PartialForamen of Monro (R)No

      DD: developmental delay, LD: learning disabilities, E-CHESS: early childhood epilepsy severity score, SEN: subependymal nodules, SEGA: subependymal giant cell astrocytoma, b/l: bilateral, M: male, F: female, RM: rhabdomyoma, IS: infantile spasm, HS: hypopigmented spots, FM: Foramen of Monro, LV: lateral ventricle, FH: frontal horn, L: left, R: right

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        Table 3

        - Frequency of tuberous sclerosis associated neuropsychiatric disorders features among tuberous sclerosis patients (n=29).

        TAND featuresPresentAbsentPercentages (%)
        Temper tantrum52417.24%
        Aggressive outbursts82127.59%
        Anxiety1283.45%
        Depressed mood82127.59%
        Self-injury1283.45%
        Difficulties paying attention181162.07%
        Overactivity/hyperactivity111837.93%
        Impulsivity82127.59%
        Absent or delayed onset of language to communicate21872.41%
        Poor eye contact131644.83%
        Repetitive behaviours32610.34%
        Sleep difficulties42513.79%
        Difficulties with eating52417.24%
        Extreme shyness1283.45%
        Mood swings111837.93%
        Repeating words or phrases over and over again2276.90%
        Difficulties getting on with peers111837.93%
        Very rigid or inflexible about how to do things72224.14%
        Restlessness or fidgetiness1283.45%
        ASD121642.86%
        ADHD72224.14%
        Intellectual disability20968.97%
        Reading191065.52%
        Writing20968.97%
        Spelling20968.97%
        Mathematics191065.52%
        Multitasking121741.38%
        Memory151451.72%
        Visuo-spatial tasks111837.93%
        Cognitive flexibility101934.48%
        Low self-esteem of the patient1283.45%
        Family stress92031.03%
        Relational difficulties of the patient62320.69%

        Values are presented as numbers and percentages (%).

        TAND: tuberous sclerosis complex associated neuropsychiatric disorders, ASD: autistic spectrum disorder, ADHD: attention deficit hyperactivity disorder

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          Table 4

          - Severity of epilepsy and response to therapy using the “early childhood epilepsy severity score” (N=30).

          Seizure characteristicsn (%)
          Frequency*
          No seizures10 (33.3)
          Weekly14 (46.6)
          Daily6 (20.0)
          More than daily0 (0.0)
          Time period
          Less than one month8 (26.6)
          1-6 months6 (20.0)
          More than 6 months16 (53.3)
          No of seizure types*
          125 (83.3)
          24 (13.3)
          31 (3.3)
          Anticonvulsants
          None3 (10.0)
          1-215 (50.0)
          312 (40.0)
          Response to treatment
          Complete cessation19 (63.3)
          Partial cessation8 (26.6)
          No response3 (10.0)
          E-CHESS score
          2-79 (30.0)
          More than 721 (70.0)

          Values are presented as numbers and percentages (%).

          E-CHESS: early childhood epilepsy severity score

          • ↵* Seizure types: infantile spasms: 14, tonic/clonic:12, absence: 5, atonic: 3, tonic: 3, focal: 3, myoclonic:2, behaviour arrest: 2, and no epilepsy: 8.

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        Central nervous system manifestations of tuberous sclerosis complex
        Munira Aden, Mahmoud O. Fawzi, Debra Prosser, Muhammad Ather, Mehak Raja, Moegamad A. Ederies, Khalid Al-Kharazi, Ata U. Maaz
        Saudi Medical Journal Nov 2024, 45 (11) 1245-1252; DOI: 10.15537/smj.2024.45.11.20240444

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        Central nervous system manifestations of tuberous sclerosis complex
        Munira Aden, Mahmoud O. Fawzi, Debra Prosser, Muhammad Ather, Mehak Raja, Moegamad A. Ederies, Khalid Al-Kharazi, Ata U. Maaz
        Saudi Medical Journal Nov 2024, 45 (11) 1245-1252; DOI: 10.15537/smj.2024.45.11.20240444
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        Keywords

        • epilepsy
        • infantile spasms
        • subependymal nodules
        • SEGA
        • TAND

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