Adult-Type Metachromatic Leukodystrophy Mimicking Multiple Sclerosis
Bibliographic record
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).
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".