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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings
Takashi Shiihara1, Mio Watanabe1, Kengo Moriyama1
1Department of Neurology, Gunma Children's Medical Center, Gunma 377-8577, Japan.
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.
Insights
Mucolipidosis IV (MLIV) is a rare genetic disorder. This case report highlights MLIV in a Japanese child, suggesting it should be considered in non-Jewish patients with white matter issues.
Area of Science:
- Genetics
- Rare Diseases
- Lysosomal Storage Disorders
Background:
- Mucolipidosis IV (MLIV) is an autosomal recessive lysosomal storage disorder.
- MLIV is primarily reported in the Ashkenazi Jewish population, presenting with intellectual disability and corneal opacities.
- Sparse reports exist for MLIV in other ethnic groups.
Observation:
- A 9-year-old Japanese boy diagnosed with MLIV via whole-exome sequencing.
- He presented with compound heterozygous mutations in MCOLN1: c.410T>C and c.802_803delAG.
- Clinical presentation included strabismus, white matter abnormalities, and hypoplastic corpus callosum, with a mild course and no corneal clouding.
Findings:
- Molecular diagnosis confirmed MLIV in a non-Ashkenazi Jewish patient.
- Elevated serum gastrin levels were observed, a common feature in MLIV.
- The patient's mild phenotype was noted, particularly the absence of corneal clouding.
Implications:
- MLIV should be considered in the differential diagnosis of white matter disorders across all ethnicities.
- Elevated serum gastrin may serve as a valuable biomarker for MLIV diagnosis.
- Expanding the ethnic and clinical spectrum of MLIV.
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