Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
Biopsy ; Child ; Developmental Disabilities/*pathology ; Female ; Human ; Muscle Fibers, Slow-Twitch/*pathology ; Muscle, Skeletal/*pathology ; Neuromuscular Diseases/congenital/*pathology

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22. This mutation results in abnormal expression or production of PLP. We here present a Korean boy with spastic quadriplegia, horizontal nystagmus, saccadic gaze, intentional tremor, head titubation, ataxia, and developmental delay. The brain magnetic resonance imaging (MRI) showed abnormally high signal intensities in the white matter tract, including a subcortical U fiber on the T2-weighted and fluid attenuated inversion recovery (FLAIR) image. The chromosomal analysis was normal; however, duplication of the PLP1 gene in chromosome Xq22 was detected when the multiplex ligation-dependent probe amplification (MLPA) method was used. We also investigated the pedigree for a genetic study related to PMD. This case suggests that the duplication mutation of the PLP1 gene in patients with PMD results in a mild clinical form of the disorder that mimics the spastic quadriplegia of cerebral palsy.
Brain/*pathology ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, X ; Developmental Disabilities/diagnosis/genetics ; Exons ; Gene Duplication ; Humans ; Korea ; Magnetic Resonance Imaging/methods ; Mutation ; Myelin Proteolipid Protein/genetics ; Myelin Sheath/chemistry ; Pelizaeus-Merzbacher Disease/*diagnosis/*genetics ; Polymerase Chain Reaction/*methods

OBJECTIVETo investigate the early diagnosis with MRI changes, MRI types and short-term neurodevelopmental outcome of preterm infants with punctate white matter damage (PWMD).

METHODThere were 44 preterm infants with PWMD (group A) from March 2009 to August 2010 at the neonatal ward of Shengjing Hospital of China Medical University, according to the number, shape and distribution of the lesions, group A was divided into dot injury group (A1), clusters group (A2) and linear group (A3), the first MRI and DWI scan of all cases were within 14 days after birth, and 17 subjects received re-examination with the MRI in the hospital. Twenty preterm infants with normal MRI (group B) received the follow-up, according to the age, 20 normal full-term infants were selected (group C) as the control group using paired design. Mental development index (MDI) and psychomotor development index (PDI) were determined using Bayley scales of infant development-II.

RESULTFirst MRI scan:in 44 infants with PWMD, group A1, A2, A3 separately had, 10, and 9 infants. MRI follow up in 17 cases showed that in 4 cases of A1 group the dot lesions disappeared; in 3 of 4 cases in clusters group who received re-examination, the lesions disappeared, 1 case had periventricular leukomalacia (PVL); in 5 of the 9 cases who had re-examination in linear group the lesions disappeared, while in 4 cases the lesions evolved into PVL. MDI and PDI: Group A [MDI (102.9 ± 15.5) , PDI (107.7 ± 17.5) ] was lower than that of group B[MDI (114.0 ± 13.1) , PDI (120.8 ± 9.4) ], group C [MDI (114.2 ± 12.2) , PDI (119.5 ± 10.7) ] (P < 0.05) . There were no significant differences between group B and group C. Group A1 [MDI (112.2 ± 8.1) , PDI (116.4 ± 8.5) ] had no significant differences compared with group B and group C. Group A2 [MDI (100.8 ± 12.5) , PDI (105.0 ± 12.1) ] showed significantly reduced values compared with group B, Group C, Group A1 (P < 0.05) ,Group A3 [MDI (75.8 ± 11.6) , PDI (79.1 ± 16.2) ] had lower values than group B, Group C, Group A1, and Group A2 (P < 0.05) .

CONCLUSIONPremature infants with PWMD mainly showed dot-like and clustered injury that are easy to be absorbed and disappear, but the linear lesions are likely to evolve into PVL. In addition, the cluster-like and linear injury have an influence on short-term cognition and motion development, especially the outcome of linear injury was the worst.

Brain ; pathology ; Brain Damage, Chronic ; diagnosis ; pathology ; Child, Preschool ; Developmental Disabilities ; diagnosis ; etiology ; pathology ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Premature ; physiology ; Infant, Premature, Diseases ; diagnosis ; pathology ; Leukomalacia, Periventricular ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Male ; Nervous System ; growth & development ; Neurologic Examination ; Retrospective Studies

Scurvy is very rare disease in industrialized societies. Nevertheless, it still exists in higher risk groups including economically disadvantaged populations with poor nutrition, such as the elderly and chronic alcoholics. The incidence of scurvy in the pediatric population is very low. This study reports a case of scurvy in a 5-year-old girl with cerebral palsy and developmental delay based on MRI findings.
Ascorbic Acid/blood/therapeutic use ; Bone Diseases, Metabolic/etiology ; Cerebral Palsy/complications ; Child, Preschool ; Cholecalciferol/blood ; Developmental Disabilities/complications ; Drainage ; Female ; Femur/pathology/radionuclide imaging/surgery ; Fever/etiology ; Follow-Up Studies ; Hematoma/diagnosis/etiology/surgery ; Humans ; Knee/radiography ; Magnetic Resonance Imaging/*methods ; Muscle Weakness/etiology ; Rare Diseases ; Scurvy/complications/*diagnosis/drug therapy ; Thigh/pathology ; Vitamins/therapeutic use