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In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities. However, clinically similar disorders such as mucolipidosis types II and III (ML) with SCC have been scarcely reported. Herein, we report four patients with ML who had SCC. Brain MRI revealed progressive spinal canal stenosis and SCC. In addition, T2-weighted high signal changes in the cervical cord were detected in two cases. Severe cases of SCC were detected as early as 1 year of age. All cases had respiratory problems. One case showed severe hypoxia and another, severe sleep apnea. In two cases, respiratory insufficiency and tetraplegia rapidly progressed as SCC progressed. Then, the patients became bedridden and needed artificial ventilation. In addition, two of the four patients died of respiratory failure. The autopsy of one patient revealed a compressed cervical cord and marked dura mater thickening due to GAG accumulation. These findings suggest that the accumulation of substrates in the dura mater caused SCC in the patients with ML. Our cases indicate that SCC is expected to be a common and critical complication of ML and MPS. MRI evaluation of cervical involvements and careful clinical observation are required in patients with ML.

Background The mitochondrial DNA MT-ATP6 gene encodes the ATP6 subunit of the mitochondrial ATP synthase. The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS). To our knowledge, there has been no reported case of infantile-onset LS associated with the m.9185 T > C variant. Herein, we report a patient with early-onset LS complicated with infantile spasms who exhibited profound developmental delay. Case report A 3-month-old Japanese girl presented with focal seizures. Brain magnetic resonance imaging (MRI) revealed bilateral lesions in the basal ganglia and cerebral peduncle. Laboratory evaluation demonstrated marked elevations of lactate and pyruvate in both venous blood and cerebrospinal fluid. At 6 months, she developed infantile spasms, which were ceased by adrenocorticotropic hormone therapy. At 2 years of age, she was bedridden due to hypotonic quadriplegia and was unable to make eye contact. Whole-exome sequencing identified apparently de novo homoplasmic m.9185 T > C variant in her blood. Conclusion This is the first case report describing early infantile-onset LS associated with the m.9185 T > C variant, and thereby broadens the phenotypic spectrum of m.9185 T > C-related disorders.

We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation.