|
Afawaz lebanon |
"Familial" Congenital Cerebral Hemiplegia With Normal Ct Scan
Abstract The Origin Of Congenital Cerebral Hemiplegia Is Predominantly Prenatal . Cerebrovascular Accident Is The Most Frequent Etiology . It Is Usually A Sporadic Disorder And Frequently Secondary To Porencephaly That Is A Function Of The Timing Of The Insult Rather Than Of The Nature Of The Insult. Although Congenital Cerebral Hemiplegia Is Usually A Static Disease, It Could Have A Progressive Course Or Even A Spontaneous Remission. Familial Porencephaly And Congenital Hemiplegia Have Been Described .This Paper Is To Report For The First Time A Typical Congenital Cerebral Hemiplegia With Normal Ct Scan In Two Sisters Of Parents With First Degree Consanguinity . The Etiopathogenesis Of Congenital Cerebral Hemiplegia With Review Of The Literature Will Be Discussed . Key -Words Congenital Cerebral Hemiplegia - Etiopathogenesis - Familial Cases - Ct Scan. Hémiplégie Cérébrale Infantile "Familiale" Avec Scanner Normal Résumé L 'Origine De L'hemiplégie Cérébrale Infantile Est À Predominance Prénatale. Une Lésion Cérébrovasculaire Est L'etiologie La Plus Fréquente. Elle Est Essentiellement Une Maladie Sporadique Et Fréquemment Secondaire À Une Porencéphalie Qui Dépent Plutôt De La Date De La Lésion Que De La Nature De La Lésion . Bien Que L'hémiplegie Cérébrale Infantile Soit Habituellement Une Maladie Fixée, Elle Peut Avoir Une Nature Progressive Ou Même Une Remission Spontanée . La Porencephalie Familiale Avec Hémiplegie Congénitale A Été Bien Décrite . Le But De Ce Travail Est De Rapporter Pour La Première Fois , Une Hémiplégie Cérébrale Infatile Avec Scanner Normal Chez Deux Soeurs De Parents Cousin -Germains. L'étiopathogénie De L'hemiplégie Cérébrale Infantile Avec Revue De La Littérature Sera Discutée . Mots -Clés Hémiplégie Cérébrale Infantile - Etiopathogénie - Cas Familiaux -Scanner. Introduction Congenital Cerebral Hemiplegia (Cch) Is Defined As A Static Unilateral Neurological Motor Deficit With Abnormal Posture, Movement And Tone (5,14,18). It Accounts For About 25-40% Of All Types Of Cerebral Palsy(32) Although The Definite Etiology Of Cch Is Not Very Well Established (3,32,51),It Seems To Be Prenatal More Than Perinatal (1,3,4,9,10,17,19,21,24,27,29,32,44,45) And Cerebrovascular Accident Is The Most Common Etiology (4,13,24,27,28,48). Cch Is Frequently Secondary To Porencephaly, Both Are Usually Sporadic Disorders With Little Evidence Of Hereditary Cause (6,9,10,14,18,). Congenital Porencephaly May Be A Primary Dysmorphogenesis Or It May Result From An Acquired Disruptive Process (6,8,34,38,49,51). If The Occurrence Of Cch With Porencephaly (3,4,6,7,16,18,24,28,48,51) Is Usually Suggestive Of Cerebrovascular Accident (4,6,7,13,24,27,28), The Mechanism Of This Arterial Occlusion Still Not Yet Understood (25,27,28,49) . Sporadic Cch With Normal Cerebral Ct Scan Is Very Well Known (7,13,16,24,27,28,42) , And The Presence Of : Unilateral Porencephaly, Unilateral Ventricular Enlargement (Uve)And Many Other Different Morphological Cerebral Ct Scan Aspects In Cases Of Cch Have Been Described (3,4,6,7,18,24,27,28,51) ;Uve Is Being Considered The Most Common Lesion Seen In Familial Cases (51). Familial Porencephaly With Cch (6,18,51) Or With Other Different Neurological Disorders (2,6,40) Have Been Described. But Cch Perse With Normal Ct Scan In Siblings Of Parents With First Degree Consanguinity Has Not Been Described Previously. Family Study And Patients The Patients Whom I Examined For The First Time On 10-10-1990,Are Two Sisters Of Neurologically Healthy Lebanese Parents With First Degree Paternal Consanguinity .The Parents Did Not Try To Get Another Pregnancy And With No History Of Miscarriage. According To Their Parents The Children Improve Clinically With Time. Neither Paternal Nor Maternal Grand Parents ,Who Were Not Available For Neurological Examination, Are Said To Have Any Neurological Difficulties . Case 1 B.K. Is A Nine Year -Old Girl .Her Pre-Perinatal History Was Normal. She Was The Product Of Full Term ( Ft ) Pregnancy, Appropriate For Gestational Age (Aga) Baby .Her History Started Since The Age Of Seven Months When The Parents Noted That She Did Not Take Objects With The Right (R) Hand. Now She Has A R. Circumduction Since Walking Which Occurred At 21 Mo. Of Age .The R. Upper Limb Is Smaller And Spastic With Astereognosis .The R. Foot Is Slightly Smaller With , Babinski ,Brisk Deep Tendon Reflexes (Dtr) And Spastic Triceps . She Has No Seizure, Microcephaly Or Congenital Anomalies , But She Has A Slight Delay .The Neurological Examination Of The Left Side Is Normal . Her Cerebral Ct Scan And Karyo-Type Are Normal. Case 2 H.K. Sister Of Case 1, A Seven Year -Old Girl, With Insignificant Pre - Perinatal History. She Was The Product Of (Ft) Pregnancy, (Aga) Baby .Her History Started At Six Months Of Age When She Presented Tendency To Take Objects Only With The Left (L) Hand .She Still Has A R. Circumduction On Walking Which Occurred At 18 Mo. Of Age. The R. Upper Limb Is Smaller And Maintained In Flexion, Adduction And Internal Rotation With Dystonic Volontary Prehension . She Has Babinski , Brisk Dtr And Spastic Triceps Of The R. Foot Her Intelligence Is Normal. She Has No Seizures , Microcephaly Or Congenital Anomalies.The Neurological Examination Of The Left Side Is Normal .Her Cerebral Ct Scan and Karyotype Are Normal Discussion The Actual Improvement In Obstetrical And Neonatal Care Did Not Eliminate Or Decrease The Incidence Of Cch (3,29,31,) . According To The Majority Of Authors, The Origin Of Cch Seems Now To Be Prenatal More Than Perinatal (1,3,4,17,19,21,24,27,29,31,32,44,45) . This Could Be Supported By Predominance Of The Following Risk Factors In Some Series: Maternal Mental Retardation (31), Congenital Malformation (29,31,32,36,43) And Intrauterine Growth Retardation (11,17,27,36,44,45), Suggesting That Prenatal Development Has Been Compromised (36,44,45) . Cerebrovascular Accident, Especially In The Territory Of The Middle Cerebral Artery (Mca), Appears To Be The Most Common Etiology (3,4,7,13,24,26,28,48) .But The Mechanism Of This Arterial Occlusion Still Not Yet Understood (25,27,28,48) . Cerebrovascular Autoregulation In The Newborn Is A Very Labile And Vulnerable Process In Relation To Hypoxia And Hypercapnia (47).. Thus Intrauterine Asphyxia Will Lead To The Loss Of This Particular Phenomenon And Make The Cerebrovascular Circulation Dependent On The Systemic Arterial Blood Pressure, Resulting In Ischemia Or Hemorrhage(27). This Ischemic Accident Which Occurs Usually Between Six And Seven Months, Could Be Also Due To Placental Embolism Or Fetal Cerebral Arteritis (26,27). Cch Is Usually Secondary To Congenital Porencephaly That May Be A Primary Dysmorphogenesis Or That May Result From An Acquired Disruptive Process Usually Occurring In The Prenatal Or Neonatal Period(8,34,38,48). The Commonest Of The Acquired Causes Of Porencephaly Is Cerebrovascular Occlusion (12,24,34), However Infection, Vascular Disruption, Trauma, Severe Maternal Hypoxia, Central Nervous System Hemorrhage Or Embolism, Ventricular Puncture And Periventricular Intracerebral Hemorrhage In Premature Have Also Been Reported (15,23,30,49). Uve, Which Is The Other Commonest Lesion Seen By Ct Scan In Cch (48), Seems To Be Secondary To Deep White Matter Destruction Resulting From Venous Hemorrhage (7,24). It Has Been Suggested That In Cases Of Cch With A Normal Ct Scan, The Lesion Might Be At The Level Of The Brain Stem (28). In At Least One Of The Present Cases (1) With Astereognosis Which Is Of Cortical Origin (28) ,This Probability Could Not Be Considered. In Contrast, In Very Low Birth Weight Infants, Postnatal Risk Factors, Such As The Older Mother With An At Risk Fetus (Abnormality Or Cardiotocography And Growth Retardation) And An Infant With Serious Illness (Hyaline Membrane Disease, Pneumothorax ,Ventriculoperitoneal Shunt, Fits, Septicemia), Have Been Reported To Be The Origin Of Cch With Periventricular Leucomalacia(11). The Presence Of Mental Retardation (Mr) In Some Cases Of Cch (3,4,17,24,33) Indicates That The Other Hemisphere Is Not Spared (3,17,27,28). Therefore The Stimulation Of The Intact Limb Will Elicit Abnormal Somatosensory Evoked Potentials (3,16). Thus, In These Cases With Mr, The Lesion May Not Be A Simple Single Unilateral Cerebrovascular Accident. The Situation May Become Less Clear In Some Cases With No Mr But With Asymmetrical Bilateral Ventricular Dilatation (28). Contradiction Is Also Present Concerning The Outcome Of Cch In Some Instances: "Mental Deterioration" When Associated With Severe Epilepsy (3,4,24,27) And Progressive Pressure Porencephaly Necessitating A Ventriculo-Peritoneal Shunting (7,18,27,41) Or Spontaneous Remission In Others (31,32,42). If The Ability Of Early Brain Development To Remodel And Change In Function And Structural Form Following Prenatal Lesion (37) Could Explain The Good Hand Function Despite An Extensive Contralateral Hemispheric Lesion In Some Cases (28) Or The Spontaneous Remission In Others, But This Latter Evolution Could Be Explained Also On The Basis That The Lesion In These Cases Of Cch Is Already One Of Transient Neurologic Dysfunction As Yet Idiopathic In Origin ,Like Any Other Transient Neurological Disorder, Especially In Cases With "Full Normal Structure" By Brain Imaging . On One Hand, The Absence Of, Cavitation By Ct Scan Does Not Exclude Focal Lesion In The Distribution Of Mca (22,35,39), Since The Perinatal Insult May Result In Neurological Sequelae That Are More Severe Than Might Be Predicted From The Extent Of Injury Recognized By The Usual Brain Imaging Or Neuropathological Techniques (46) . On The Other Hand, Cavitation Is Not Principally A Function Of The Nature Of The Insult But Rather Of The Timing Of The Insult That Strikes During A Time Period From Approximately Six Months Of Gestation To The First Postnatal Weeks Or Months (48). The Most Common Lesions Seen By Ct Scan In Cases Of Cch Are: 1-Porencephaly Usually In The Territory Of Mca With Or Without Ipsilateral Ventricular Enlargement (3,4,6,7,9,13,16,24,28,50). 2-Uve With Or Without Ipsilateral Hemiatrophy , Paraventricular Cavities Or Calcifications And Bilateral Cortical Atrophy (3,4,6,13,16,18,24,28) . However Other And Different Ct Scan Aspects Have Been Described:
The Review Of The Literature Reveals Other Familial Cases Of Cch, But With Abnormal Ct Scan: Haar Et Al 1975(18) Described Four Individuals With L Sided Cch In Four Generations . The Three Living Affected Individuals Examined By Ct Scan All Had R Cerebral Atrophy And Enlargement Of The R Lateral Ventricle .The Disorder Appears To Be Inherited As An Autosomal Dominant Trait With Transmission Through An Unaffected Individual. Another Family Described By Karen - Nelson, Had Four Affected Members Similar To Haar's Cases Except That The Young Male Proband, His Brother, Sister And Maternal Uncle Were All Born With R Hemiparesis (18). Subsequently, Berg Et Al (1982) (6), In Studying Familial Porencephaly In Two Families, Reported Three Siblings: Two Unilateral Porencephaly, Cch And Seizures And A Third With Bilateral Porencephaly ,Spastic Quadriplegia And Mr. A Paternal Aunt ,Uncle And Grand Mother Also Have Had Cch Since Childhood .The Second Family Showed Two Siblings With Unilateral Porencephaly , Microcephaly , Mr, Seizures And No Motor Deficit . More Recently Zonana Et Al (1985) (50) , Have Evaluated Two Families With Six Members Affected With Cch And With Autosomal Dominant Inheritance , Five Of Whom Have Been Shown To Have Unilateral Congenital Porencephaly And Ipsilateral Ventricular Enlargement .The First Family Study Showed Three Patients With L. Porencephaly And R. Cch: Two Siblings Also Had Major Motor Seizures But Normal Mental Development.The Third Patient Is A PaternalUncle. The Father Of The Two Siblings Was Neurologically And Radiologically Normal, But A Learning Disability Had Been Noted During His School Years Though He Is Of Normal Intelligence. The Second Family Study Showed A Father And His Son With L. Cch And R. Porencephaly Both Have Normal Intelligence And No Seizures, But The Father Has Problems With Dyslexia . Another Paternal Uncle's Son Has Had R.Cch. In Both Families There Is A Variable Expression And Penetrance Of The Disease. The Same Side Involvement In The Present Family As Well As In Each Of The Other Affected Offsprings Is A Question That Cannot Be Fully Answered Form The Information Available (18,50). The Clinical Picture And Course Of The Present Cases Appear To Be The Same As That Of The Sporadic Ones As Has Been Noted In Other Familial Cases (18,50) . The Small Number Of The Present Cases Which Are Possible Single Generation Disease And The Lack Of Sufficient And Detailed Clinical Information About The Different Members Of The Different Generations Of The Patients' Pedigree, Make The Interpretation Of Genetic Origin Very Difficult. An Environment (Familial, Non Genetic )Etiology ,With Different Individual Susceptibility May Not Be Completely Ruled Out. Conclusion Cch, Which Is Usually A Sporadic Disorder, Appears To Be An Heterogenous Group With Ante-Peri Postnatal Risk Factors . Prenatal Cerebrovascular Insult Seems To Be Responsible In The Majority Of Cases. The Last Trimester Of Pregnancy Would Appear To Be The Highest Risk Period Of Cch With Porencephaly Which Is The Most Common Lesion Seen By Ct Scan .The Underlying Lesion Is More Complex Than What Could Be Seen In Ct Scan. Familial Cases Have Almost The Same Clinical, Radiological And Perhaps Course Features As The Sporadic Cases. Article Reçu Le 26/8/93 -Accepté Pour Publication Le 7/3/94 . -Tirés À Part :Dr. Ali Fawaz , P.O.Box 99/25 Beirut-Lebanon . References
|
|
Copyright © 2004 Allomails.COM. All rights reserved.
|