title: Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.
abstract: BACKGROUND
  Mucolipidosis IV (MLIV; OMIM #252650) is an autosomal recessive lysosomal storage disorder, frequently observed in the Ashkenazi Jewish population. MLIV typically results in intellectual disability, corneal opacities, and delayed motor milestones during infancy, with a relatively static course. To date, reports of MLIV in other ethnic groups have been sparse.
  
  
  METHODS
  The present study is a case report of a 9-year-old Japanese boy, diagnosed via whole-exome sequencing, with compound heterozygous mutations of MCOLN1 (OMIM(*)605248): c.410T>C (p.Leu137Pro) and c.802_803delAG (p.Ser268Trpfs*17). Although his clinical course was mild (due to a lack of corneal clouding), other relevant features were present. These included strabismus, white matter signal abnormalities, and a hypoplastic corpus callosum at 2years of age. After a molecular diagnosis, a markedly elevated serum gastrin level (which is also common in MLIV) was confirmed.
  
  
  CONCLUSIONS
  The present results suggest that MLIV could be added as a differential diagnosis for white matter disorders, regardless of ethnicity. Beyond neurological or ophthalmologic findings, serum gastrin could be a useful diagnostic marker for MLIV.
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Gunma 377-8577, Japan. Electronic address: shiihara-ind@umin.net.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Gunma 377-8577, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, Gunma 377-8577, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Moriyama
authors.affiliation: Department of Ophthalmology, Kiryu Kosei General Hospital, Gunma 376-0034, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Maruyama
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Kikuchi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Natsuko
authors.initials: N
authors.lastname: Arai-Ichinoi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Division of Medical Genetics, Gunma Children's Medical Center, Gunma 377-8577, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Sameshima
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D060005:Genotyping Techniques; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D009081:Mucolipidoses / Q000000981:diagnostic imaging* / Q000235:genetics*; D009154:Mutation; D012720:Severity of Illness Index; D050051:Transient Receptor Potential Channels / Q000235:genetics*
chemical_list: C416674:MCOLN1 protein, human; D050051:Transient Receptor Potential Channels
keywords: Hypoplastic corpus callosum; MCOLN1; Magnetic resonance imaging; Mucolipidosis IV; Serum gastrin; White matter disorders