The First International Congress Of Egyptian
Society Of Child Neuropsychiatry.
Sharm el sheikh 26/02/2003

Ataxia Telangiectasia Presenting As Abdominal Tumor

Purpose: The Purpose Of This Abstract Is To Report For The First Time That Ataxia - Telangiectasia Can Present As Malignant Tumor Before The Appearance Of Ataxia.

Introduction: Ataxia Telangiectasia Is An Autosomal Recessive Disease Characterized By Hypersensitivity Of ADN To Ionized Radiation, Which Is A High Risk Of Malignancy And Progressive Cerebellar Degeneration .
It Manifests Mainly By Progressive Cerebellar Ataxia, Associated Disturbed Ocular Motility, Conjunctival Telangiectasia And Extrapyramidal Manifestation .

Method: M. T. Is A Five Years Old Boy With A Normal Developmental History. Parents Have Maternal First Degree Consanguinity. The Patient Was Seen For Seizures That Started One Month Following Abdominal Surgery For Acute Intestinal Obstruction Preceded By Two Weeks Of Diarrhea . Histo- Pathological Studies Revealed Burkitt Lymphoma. So Chimiotherapy Including Intrathecaly Was Initiated Before The Appearance Of Seizures . It Is Important To Mention That The Patient Has Never Consulted Previously For Abnormal Gait Or Any Neurologic Complain .The Detailed Neurologic Exam Of The Patient Revealed : Normal Intelligence, No Neurological Asymmetry, No Ataxia, No Ocular Motor Disturbance, No Finger -To-Nose Test Anomalies , No Dystonia , No Dysarthria. The Patient Runs And Hops On One Foot But Tandem Gait Was Difficult. Surprisingly A Prominent Horizontal Bilateral Conjunctival Telangiectasia Was detected.
So The Family History Displayed The Presence Of An Eleven Years Old Brother With Progressive Abnormal Gait, And The Neurologic Exam Was Strongly In Favor Of Ataxia Telangiectasia .
Brain MRI Which Is Normal In The Patient Showed That His Brother Suffers Marked Cerebellar Atrophy . Alpha Fetoproteine In The Proband And His Brother's Plasma Was Elevated Respectively: 162 IU/ml, 211 IU/ml N.V.(0-15) .
After Six Months Of Follow Up The Patient Display Some Gait Instability That Progress During The Next three Years To Frank Cerebellar Ataxia .

Discussion: Ataxia Telangiectasia Usually Start After A Normal Age Of Walking By Cerebellar Ataxia. The Disease Becomes Fully Blown When The Child Reaches Between 4 And 5 Years Of Age When The Ocular Telangiectasia Are Constant .
In Half Of The Cases, Respiratory Infections Are The Presenting Manifestations. Malignancy, Usually Lymphoma, Which Complicates The Disease In 10- 38 % Of The Cases May Manifest Itself Before The Age Of 15 years .
Atypical Forms Without Telangiectasia Or With Peripheral Neuropathies Have Been Described .

Conclusion: Ataxia is Consistently The First Classical Cause Of Consultation in Ataxia - Telangiectasia. Malignancy Is Usually A Late Manifestation And It Is A Main Cause Of Death But The Present Paper Proved That Ataxia - Telangiectasia Should Be Researched In Case Of Lymphoma, Hodgkin, Leukemia, Burkitt Lymphoma Even In The Absence Of Ataxia.
Tandem Gait Could Be Considered a Sensitive Test For Cerebellar Ataxia .