فهرست نشریات علمی دسترسی آزاد ایران

How to Cite This Article: Jabbehdari S, Rahimian E, Jafari N, Sanii S, Khayatzadeh Kakhki S, Nejad Biglari H. The Clinical Features and Diagnosis of Metachromatic Leukodystrophy: A Case Series of Iranian Pediatric Patients. Iran J Child Neurol. Summer 2015;9(3):57-61.AbstractObjectiveMetachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolicdiseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency.Materials & MethodsEighteen patients diagnosed as metachromatic leukodystrophy in the NeurologyDepartment of Mofid Children’s Hospital in Tehran, Iran between 2010 and2014 were included in our study. The disorder was confirmed by clinical,EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings alongwith neurometabolic and genetic assessment from reference laboratory in Iran.We assessed age, gender, past medical history, developmental status, clinicalmanifestations, and neuroimaging findings of 18 patients with metachromaticleukodystrophy.ResultsFrom 18 patients, 80% were offspring from consanguineous marriages. A familyhistory of metachromatic leukodystrophy disease was positive for four patients.Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. ConclusionMLD is an inheritance metabolic disorder, which was confirmed by theassessment of arylsulfatase A enzyme function, peripheral blood leukocyte thatassessed in a referral laboratory in Iran.