title: Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.
abstract: We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.
authors.affiliation: Section of Pediatric Neurology, Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Buoni
authors.forename: R
authors.initials: R
authors.lastname: Zannolli
authors.forename: M
authors.initials: M
authors.lastname: de Santi
authors.forename: F
authors.initials: F
authors.lastname: Macucci
authors.forename: J
authors.initials: J
authors.lastname: Hayek
authors.forename: A
authors.initials: A
authors.lastname: Orsi
authors.forename: R
authors.initials: R
authors.lastname: Scarinci
authors.forename: A
authors.initials: A
authors.lastname: Buscalferri
authors.forename: A
authors.initials: A
authors.lastname: Cuccia
authors.forename: M
authors.initials: M
authors.lastname: Zappella
authors.forename: C
authors.initials: C
authors.lastname: Miracco
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000378:metabolism*; D002648:Child; D004569:Electroencephalography; D006801:Humans; D015603:Keratinocytes / Q000473:pathology / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D008544:Melanocytes / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D020460:Melanosomes / Q000378:metabolism* / Q000473:pathology; D001523:Mental Disorders / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D046529:Microscopy, Electron, Transmission / Q000379:methods; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D021381:Protein Transport; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure