Year: 2009
Type: article
Study design: Case Report
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA).It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves 1 .The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 16) and adult-type (after age 16) 1 .The disorder has different clinical presentations depending on the age at onset.Most patients with adult-type MLD present psychiatric symptoms and a schizophrenia-like condition 2,3 .More recent reports indicate that dementia together with pure neurological symptoms are also prominent [3][4][5] .Before examination by magnetic resonance imaging (MRI) or ASA activity dosage, the patients are often misdiagnosed as having schizophrenia, affective disorder, or personality disorder.We report a patient with an adult-type MLD, in which the clinical course and neuroimaging results could suggest the diagnosis of multiple sclerosis (MS). CASE REPORTA 44-year-old woman presented a history of primary sterility.There were no family history of neurological or mental disease, nor had she had any previous episodes of neurotrauma or infection.The patient worked as a medical secretary.She was initially seen at the age of 18 years because of two episodes of generalized tonic and clonic seizures treated with Phenobarbital and patient was seizures-free since this date.In December 2003, the patient gradually developed a lack of interest, social withdrawal, blunted affect and she could not take care of her home and work.She showed signs of inappropriate giggling.In May 2005, when she first visited our department she became untidy and disinhibited.She lost depth of feeling and had no insight into her illness.She was less worried and had the feeling of euphoria.She had difficulty with abstract thinking and problem solving.At any time of the disease evolution, there was no hallucination or paranoid delusion and neither had she had any episodes of visual, or sensory nor motor disturbances.Neurological examination showed pyramidal features in all limbs without paresis (she had brisk reflexes in four limbs with bilateral Babinski sign).Cranial nerves examination, cerebellar, sensory, and gallbladder functions were all normal.Ophthalmologic examination and ocular funds were also normal.On the mini mental state examination, she scored 13 (perfect score: 30).
Institutions: University of Monastir, Hôpital Farhat Hached
Language: French
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2015691301