نمای بالینی و تشخیص بیماری کاناوان، یک سری بیمار ایرانی

کریم زاده, پروانه and جعفری, نرجس and نژاد بیگلری, حبیبه and رحیمیان, الهام and احمدآبادی, فرزاد and نعمتی, حمید and ناصحی, محمد مهدی and غفرانی, محمد and ملامحمدی, محمد (1393) نمای بالینی و تشخیص بیماری کاناوان، یک سری بیمار ایرانی. Iranian journal of child neurology ــ 8 (3). pp. 66-71. شاپا 1735-4668

Text - Published Version

Official URL: http://journals.sbmu.ac.ir/index.php/ijcn/article/...


The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients.

English Abstract

OBJECTIVE: Canavan's disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population. MATERIAL & METHODS: 45 patients were referred to the Pediatric Neurology Department of Mofid Children's Hospital in Tehran-Iran from 2010-2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study. Magnetic Resonance Spectrometry (MRS) and neuro metabolic assessment from a referral laboratory in Germany confirmed that 17 patients had Canavan's disease. RESULTS: Visual impairment, seizure, hypotonia, neuro developmental arrest, and macrocephaly were the most consistent findings in the patients in this study. Assessments of neuro developmental status revealed that 13 (76%) patients had neuro developmental delays and 4 (24%) patients had normal neuro development until 18 months of age and then their neuro developmental milestones regressed. In this study, 100% of cases had macrocephalia and 76% of these patients had visual impairment. A history of seizures was positive in 8 (47%) patients and began around 3 months of age with the most common type of seizure was tonic spasm. EEGs were abnormal in all epileptic patients. In ten of the infantile group, we did not detect elevated level of N-acetylaspartic acid (NAA) in serum and urine. However, the MRS showed typical findings for Canavan's disease (peaks of N-acetylaspartic acid). CONCLUSION: We suggest using MRS to detect N-acetylaspartic acid as an acceptable method for the diagnosis of Canavan's disease in infants even with normal serum and urine N-acetylaspartic acid levels.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده مسئول :نرجس جعفری
نویسنده :حبیبه نژاد بیگلری
نویسنده :الهام رحیمیان
نویسنده :فرزاد احمدآبادی
نویسنده :حمید نعمتی
نویسنده :محمد مهدی ناصحی
Additional Information:Indexed in: PubMed/Pubmed Central , EMBASE , Scopus , ISC(Islamic World Science Citation Center) , CABI(Bibliographic database), IMEMR (Index Medicus for Eastern Mediterranean Region) , Index Copernicus, EBSCO (CINAHL) , Proquest (CSA: In Neuroscience Database), DOAJ , Google scholar , SID(Scientific Information Database) •Iranmedex , Magiran , IranJournal (RiceSt)
کلیدواژه ها (انگلیسی):Canavan’s disease, diagnosis. N- Acetylaspartic acid, Magnetic Resonance Spectrometry
Subjects:WL Nervous system
WN Radiology . Diagnostic Imaging
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:6413
Deposited By: Dr Farzad Ahmadabadi
Deposited On:21 Dec 1393 05:29
Last Modified:21 Dec 1393 05:30

Repository Staff Only: item control page

Document Downloads

More statistics for this item...