Neurocognitive Decline and Motor Regression in a 34-Year-Old Woman

Sumaira Nabi, MBBS; Zakir Jan, MBBS, FCPS Neurology; Muhammad Irshad, MBBS, FCPS Neurology


April 23, 2018

The juvenile form of MLD has its onset between ages 4 and 12 years. In these cases, the clinical course is a protracted one, and manifestations vary from peripheral nerve involvement to learning disability and behavioral dysfunction. The mean survival period is 7-9 years.[7]

The adult variant of MLD is quite rare and has a slowly progressive course, with a mean survival of at least 12 years.[4] The most common presenting symptoms of the adult form, which begins in the late teens, are mental deterioration and behavioral abnormalities. The other symptoms of adult MLD include emotional lability; psychiatric symptoms, such as delusions or hallucinations; ataxia; extrapyramidal signs; progressive dementia; epileptic seizures; and signs of peripheral neuropathy.[7] The patient in this case initially had psychotic features and remained under the care of psychiatrists, having been diagnosed with schizophrenia.

Hyde and colleagues,[8] in a review of 129 published case reports on MLD, found psychosis to exist in 53% of patients with juvenile and adult-onset MLD, often as the initial manifestation of the disease. The investigators concluded that psychiatric symptoms, such as complex auditory hallucinations and bizarre delusions, are significant characteristics of MLD, presenting in patients aged 12-30 years. The report indicated that disruption of corticocortical and corticosubcortical connections, particularly in the frontal lobes, may give rise to psychosis. Age was also proposed to play an important role in the development of psychosis. In another case series, three cases of late-onset MLD within a family were reported. The patients presented with psychiatric disturbances diagnosed as schizophrenia and dementia.[9]

Schizophrenia-like symptoms were the initial manifestation of MLD in this patient, and they persisted for 3.5 years. Later, progressive neurocognitive decline and motor regression set in. Her first symptoms were inappropriate behavior, self-neglect, lack of insight, disorganized thoughts, inappropriate affect with outbursts of laughter, social withdrawal, and auditory hallucinations. The exact onset of dementia could not be identified because it was probably masked by the schizophrenia-like symptoms; however, dementia was not the initial manifestation of MLD in this patient.

Cases presenting with cognitive impairment have been reported. Marcão and colleagues[10] described a 37-year-old woman with severely impaired cognitive and mental functions. This patient also displayed frontal signs, including the grasp reflex and perseveration. In some cases, patients instead present with early motor impairment, with psychiatric and cognitive impairment setting in later.


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