A case of congenital neuromuscular disease with uniform type 1 fibers. 2006

Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
Department of Pediatrics, Kobe City General Hospital, Kobe, Japan. haruko@mbox.kyoto-inet.or.jp

Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat alone at 20 months, but still could not walk at age 44 months. His mental development was good; he could speak 3-word sentences at 44 months. Scoliosis, bilateral congenital dislocation of the hips, bilateral undescended testes and hemangioma simplex on the right lower limb were also seen. Muscle biopsy at the age of 8 months showed more than 99% of the myofibers were type 1. This is the first case of congenital neuromuscular disease with uniform type 1 fibers accompanied by recurrent acute respiratory failure. This case may be clinically more severe than previously reported cases.

UI MeSH Term Description Entries
D008297 Male Males
D009412 Nerve Fibers Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM. Cerebellar Mossy Fibers,Mossy Fibers, Cerebellar,Cerebellar Mossy Fiber,Mossy Fiber, Cerebellar,Nerve Fiber
D009468 Neuromuscular Diseases A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. Amyotonia Congenita,Oppenheim Disease,Cramp-Fasciculation Syndrome,Fasciculation-Cramp Syndrome, Benign,Foley-Denny-Brown Syndrome,Oppenheim's Disease,Benign Fasciculation-Cramp Syndrome,Benign Fasciculation-Cramp Syndromes,Cramp Fasciculation Syndrome,Cramp-Fasciculation Syndromes,Fasciculation Cramp Syndrome, Benign,Fasciculation-Cramp Syndromes, Benign,Foley Denny Brown Syndrome,Neuromuscular Disease,Oppenheims Disease,Syndrome, Cramp-Fasciculation,Syndrome, Foley-Denny-Brown,Syndromes, Cramp-Fasciculation
D002658 Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003456 Cryptorchidism A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis. Testis, Undescended,Abdominal Cryptorchidism,Bilateral Cryptorchidism,Cryptorchidism, Unilateral Or Bilateral,Cryptorchism,Inguinal Cryptorchidism,Testes, Undescended,Undescended Testis,Unilateral Cryptorchidism,Cryptorchidism, Abdominal,Cryptorchidism, Bilateral,Cryptorchidism, Inguinal,Cryptorchidism, Unilateral,Undescended Testes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012600 Scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) Scolioses

Related Publications

Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
May 1991, No to hattatsu = Brain and development,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
June 2012, European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
October 2010, Journal of anesthesia,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
January 1997, Pediatric neurology,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
November 2006, European journal of neurology,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
February 2004, Yonsei medical journal,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
June 2000, Brain & development,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
January 2006, Brain & development,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
December 1983, Archives of neurology,
Haruko Maeda Sakamoto, and Mieko Yoshioka, and Masahiro Tsuji, and Shigekazu Kuroki, and Yoshihisa Higuchi, and Ikuya Nonaka, and Ichizo Nishino
March 1983, Archives of neurology,
Copied contents to your clipboard!