Box 2 detailed history of one NP-C patient whose main disability was related to a frontal behavior manifestations

Patient 15

A 33-year-old man of Moroccan origin was referred to our Neurology outpatient Clinics for exploration of behavioral changes, along with a 15 year-long learning disability and more recent gait disturbances. The patient and his family reported no history of psychiatric/neurologic disorder. He was born from consanguineous parents (cousins’ siblings), at term, without jaundice. He started to experience learning difficulties (mathematics) at the age of 18, repeating twice his last grade at high school. He could not properly work and stayed at his parents’ house. He did not invest his social life. His parents described him as more and more introverted since the age of 28. He started to experience gait disturbances at the age of 30. His family reported insidious behavioral changes including apathy (spending the day watching TV) and personal neglect. He bought expensive pairs of shoes, mobile phones, without elaborating more about it. He withdrew large amounts of cash several times and started to answer to misleading advertising asking for money. The patient acted like he was not aware of this behavioral change. Apart from that, the patient did not report any delusion/hallucination, depressive symptoms or anxiety. After a neurological assessment, we suspected a cognitive and behavioral complication of a frontal lobe syndrome, along with learning disability, cerebellar ataxia and vertical supranuclear palsy. A brain Magnetic Resonance Imaging revealed a bifrontal atrophy. Neuropsychological assessment confirmed a dysexecutive syndrome and an attention deficit. A diagnosis of Niemann-Pick type C disorder associated with a frontal lobe syndrome was eventually made with positive NP-C biomarkers (oxysterols) and genetic sequencing