Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.
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.


PATIENT
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.


DISCUSSION
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.
['Shiihara|Takashi|T|', 'Watanabe|Mio|M|', 'Moriyama|Kengo|K|', 'Maruyama|Yasuhiro|Y|', 'Kikuchi|Atsuo|A|', 'Arai-Ichinoi|Natsuko|N|', 'Uematsu|Mitsugu|M|', 'Sameshima|Kiyoko|K|']
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 D009154:Mutation D012720:Severity of Illness Index D050051:Transient Receptor Potential Channels
Mucolipidosis IV MCOLN1 Hypoplastic corpus callosum Serum gastrin White matter disorders Magnetic resonance imaging