title: Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits.
abstract: A 5-year-old boy presented with frequent absences. Speech began to regress. He became ataxic, barely able to walk. Studies with Xe-133 and hexamethylpropylene amine oxime single-photon emission computed tomography revealed sharply decreased cerebral blood flow, especially in the occipital area. Landau-Kleffner syndrome was suspected but a sleep electroencephalogram showed few abnormalities. He was started on clorazepate and diltiazem. A skin biopsy to rule out possible CLN2 revealed, instead of the predicted curvilinear profiles, granular osmiophilic deposits, consistent with infantile neuronal ceroid lipofuscinosis (CLN1). The family reported increased seizure frequency and consulted with a colleague, who advised them to resume valproate and discontinue diltiazem. The boy died shortly thereafter. Decreased cerebral blood flow is a new finding in CLN1 with delayed onset. Calcium-channel blockers improve cerebral blood flow and perhaps delay clinical regression.
authors.affiliation: Mental Retardation Center, UCLA School of Medicine, Los Angeles, California, USA. mphilipp@ucla.edu
authors.forename: M
authors.initials: M
authors.lastname: Philippart
authors.forename: I
authors.initials: I
authors.lastname: Mena
authors.forename: K E
authors.initials: KE
authors.lastname: Wisniewski
authors.forename: G
authors.initials: G
authors.lastname: Pineda
mesh_terms: D017668:Age of Onset; D001706:Biopsy; D002560:Cerebrovascular Circulation; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000000981:diagnostic imaging* / Q000473:pathology / Q000503:physiopathology*; D009474:Neurons / Q000473:pathology; D009778:Occipital Lobe / Q000098:blood supply; D013702:Temporal Lobe / Q000098:blood supply; D013869:Thiolester Hydrolases; D015899:Tomography, Emission-Computed, Single-Photon; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D008565:Membrane Proteins; D000091346:Tripeptidyl-Peptidase 1; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human; C000717267:TPP1 protein, human