- Joubert Syndrome with Severe Hypotonia: A case report
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Han JY, Choi IS, Lee SY, Kim JH, Lee SG, Rowe SM
- KMID: 2323686
- J Korean Acad Rehabil Med.
- 2001 Oct;25(5):883-887.
Joubert syndrome first described by Joubert et al. in 1969 is a very rare congenital disorder, characterized by episodic hyperpnea, abnormal eye movement, hypotonia, ataxia, and mental retardation. This syndrome... -
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- Neuromuscular disorders in children : Diagnosis and treatment
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Chae JH
- KMID: 1494518
- Korean J Pediatr.
- 2008 Dec;51(12):1295-1299.
- doi: 10.3345/kjp.2008.51.12.1295
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous... -
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- A Case of Centronuclear Myopathy
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Kim YH, Kwon YS, Lim DH, Jun YH, Kim SK, Hong YJ, Son BK, Han HS
- KMID: 2207186
- J Korean Pediatr Soc.
- 2002 Sep;45(9):1170-1174.
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It... -
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- Atonic Seizure with Hypotonia in a Patient with Parietal Lobe Epilepsy
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Ryoo S, Kang JW, Lee JH, Lee JY, Koo DL
- KMID: 1449318
- J Korean Epilepsy Soc.
- 2011 Dec;15(1):34-36.
Atonic seizure shows characteristic features such as head drop because postural muscle tone is suddenly lost. Atonia of the seizure means no muscle tone and loss of electromyographic activities were... -
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- A Case of Congenital Myotonic Dystrophy
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Lee TJ, Kim KS, Namgung R, Park KI, Lee C, Lee YM, Lee JS, Kim TS
- KMID: 2099043
- J Korean Soc Neonatol.
- 2002 Nov;9(2):204-210.
Congenital myotonic dystrophy is an almost always maternally-inherited autosomal dominant multisystem disorder of variable clinical expressions characterized by hypotonia and frequent respiratory distress at birth. The muscle weakness may be... -
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- Anesthetic management in a pediatric patient with infantile phase Prader-Willi Syndrome: A case report
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Kim JY, Lee JH, Kim EJ, Lee SK, Ban JS, Min BW
- KMID: 2238103
- Korean J Anesthesiol.
- 2009 Aug;57(2):259-263.
- doi: 10.4097/kjae.2009.57.2.259
Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, childhood obesity, characteristic facial appearance, mental retardation, hypogonadism and short stature. It is described as a 2-stage disorder with an... -
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- Merosin Negative Congenital Muscular Dystrophy Who Was Misdiagnosed Initially as Cerebral Palsy: A case report
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Kim SY, Shin YB, Shin MJ, Kim SN, Kim W
- KMID: 2326083
- J Korean Acad Rehabil Med.
- 2010 Aug;34(4):471-474.
Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contractures, and dystrophic changes in the muscles. The classic forms of CMDs... -
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- Experience with reversal of a neuromuscular block with sugammadex in a child with Prader-Willi syndrome: A case report
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Sung TY, Kang T, Cho CK, Kwon HU, Kang PS, Jee YS
- KMID: 2405850
- Anesth Pain Med.
- 2017 Oct;12(4):335-338.
- doi: 10.17085/apm.2017.12.4.335
We treated a 4-year-old patient with a genetic disorder, Prader-Willi syndrome, that was accompanied by pulmonary hypertension due to upper airway obstruction. Prader-Willi syndrome is a complex genetic condition characterized... -
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- Anesthetic considerations in a child with Sotos syndrome: A case report
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Chung JY, Kim G, Park JH, Choi HK, Park BH, Choi MY, Kim JS
- KMID: 2388839
- Anesth Pain Med.
- 2017 Jul;12(3):240-242.
- doi: 10.17085/apm.2017.12.3.240
Sotos syndrome is a rare sporadic genetic disorder characterized by pathognomonic facial features, motor developmental delay induced by hypotonia, learning difficulties, and cardiac and renal anomalies. This report describes the... -
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- A Case of Neonatal Onset Joubert Syndrome
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Lee G, Kim EY, Sun KG, Na KH, Park SY, Kim KS, Kim YW
- KMID: 2099081
- J Korean Soc Neonatol.
- 2004 Nov;11(2):230-235.
Joubert syndrome is a rare autosomal recessive disorder characterized by cerebellar vermian hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns and abnormal eye movements. It is usually diagnosed during infancy or... -
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- X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
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Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH
- KMID: 1777032
- Yonsei Med J.
- 2011 May;52(3):547-550.
- doi: 10.3349/ymj.2011.52.3.547
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder... -
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- A Familial Nemaline Myopathy
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Hong TY, Park JH, Kim HD, Kang HT, Cho HJ, Sunwoo IN, Kim TS
- KMID: 1957368
- J Korean Neurol Assoc.
- 1993 Dec;11(4):607-613.
Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the... -
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- A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy
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Hwang JK, Cha TH, Jang JH, Park HK, Kim CR, Seol IJ, Lee HJ
- KMID: 2367039
- Perinatology.
- 2016 Dec;27(4):260-263.
- doi: 10.14734/PN.2016.27.4.260
Multiple congenital anomalies-hypotonia-seizures syndrome-2 is a genetic disorder also known as infantile epileptic encephalopathy. This disorder is associated with a mutation in the PIGA gene, resulting in defective in glycosylphosphatidylinositol... -
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- Choroid Detachment Following Intraocular Surgery
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Song ID, Jung HS, Kim SH
- KMID: 2107345
- J Korean Ophthalmol Soc.
- 1979 Dec;20(4):603-607.
A choroid detachment occurs most commonly after surgical operation for cataract, glaucoma, and retinal detachment. It is fairly characteristic for postoperative choroidal edema to be accompanied by hypotonia and a... -
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- X-linked recessive myotubular myopathy with MTM1 mutations
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Han YM, Kwon KA, Lee YJ, Nam SO, Park KH, Byun SY, Kim GH, Yoo HW
- KMID: 2284286
- Korean J Pediatr.
- 2013 Mar;56(3):139-142.
- doi: 10.3345/kjp.2013.56.3.139
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.... -
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- Prader-Willi Syndrome: A case report
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Kang K, Park SE, Cho YW, Kim CH, Park SH
- KMID: 2299088
- Korean J Anesthesiol.
- 2004 Jun;46(6):751-754.
- doi: 10.4097/kjae.2004.46.6.751
The Prader-Willi syndrome (PWS) is a rare disorder characterized by infantile hypotonia, subsequent obesity with hyperphagia. Hypogonadism, cryptorchidism, delayed psychomotor development, short status, strabismus, myopia, scoliosis, kyphosis and temperature regulation... -
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- Fumarase Deficiency with Spastic Quadriplegia: A case report
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Jung KH, Park JH, Ko YJ, Lee SE
- KMID: 2323513
- J Korean Acad Rehabil Med.
- 2000 Aug;24(4):793-798.
Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It... -
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- A Case of 22q13 Deletion Syndrome
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Na SR, Im BC, You JH, Cho HM, You EJ, Kim SJ, Kim KS, Kim YW, Kim EY
- KMID: 2176848
- J Korean Child Neurol Soc.
- 2010 Nov;18(2):338-344.
The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to... -
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- Floppy Infant Syndrome: Clinical Analysis and Diagnostic Approaches (2008-2012)
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Sul YA, Yum MS, Yun-Jeong , Kim EH, Ko TS, Yoo HW
- KMID: 2176749
- J Korean Child Neurol Soc.
- 2014 Sep;22(3):143-148.
PURPOSE: Floppy infant, or congenital hypotonia, is caused by various diseases, such as genomic disorders, diseases involving the central or peripheral nervous system, musculoskeletal diseases, and metabolic disorders. We describe... -
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- A Case of Minicore Myopathy
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Shim KJ, Kim SK, Yoon HS
- KMID: 2177063
- J Korean Child Neurol Soc.
- 2002 Nov;10(2):378-382.
Minicore myopathy, an uncommon condition, is one of congenital myopathies. It is characterized by multifocal areas of degeneration in muscle fibers. The minicores consist of numerous small areas of decreased... -
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