1.A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization.
Su Bin SON ; Jung Mi CHUN ; Kyung Ah KIM ; Sun Young KO ; Yeon Kyung LEE ; Son Moon SHIN
Journal of Korean Medical Science 2012;27(10):1269-1272
Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
Adult
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Apnea/etiology
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Blotting, Southern
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Chylothorax/complications
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Female
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Fertilization in Vitro
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Humans
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Infant, Newborn
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Infant, Premature
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Microsatellite Repeats/genetics
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Muscle Hypotonia/etiology
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Myotonic Dystrophy/complications/*diagnosis/radiography
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Twins
2.A Case of Myotonic Dystrophy with Electrolyte Imbalance.
Weon Jin KO ; Kwang Yeol KIM ; So Mi KIM ; Seung Jae HONG ; Sang Hoon LEE ; Ran SONG ; Hyung In YANG ; Yeon Ah LEE
Journal of Korean Medical Science 2013;28(7):1111-1113
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. But, Electrolytes imbalance is a very rare condition in patients with DM1 yet. Herein we present a 42-yr-old Korean male of DM1 with abnormally elevated serum sodium and potassium. The patient had minimum volume of maximally concentrated urine without water loss. It was only cured by normal saline hydration. The cause of hypernatremia was considered by primary hypodipsia. Hyperkalemic conditions such as renal failure, pseudohyperkalemia, cortisol deficiency and hyperkalemic periodic paralysis were excluded. Further endocrine evaluation suggested selective hyperreninemic hypoaldosteronism as a cause of hyperkalemia.
Adult
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Humans
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Hyperkalemia/complications/*diagnosis
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Hypernatremia/complications/*diagnosis
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Hypoaldosteronism/complications/diagnosis
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Kidney Concentrating Ability
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Male
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Myotonic Dystrophy/complications/*diagnosis/*genetics
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Potassium/blood
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Protein-Serine-Threonine Kinases/*genetics
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Sodium/blood
3.Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report.
Hee Na KIM ; Young Kuk CHO ; Joo Hyun CHO ; Eun Mi YANG ; Eun Song SONG ; Young Youn CHOI
Journal of Korean Medical Science 2014;29(6):879-883
Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.
3' Untranslated Regions
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Atrioventricular Block/complications/*diagnosis
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Blood Gas Monitoring, Transcutaneous
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Chromosomes, Human, Pair 9
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Electrocardiography
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Female
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Humans
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Infant, Newborn
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Myotonic Dystrophy/complications/*diagnosis/genetics
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Myotonin-Protein Kinase/genetics
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Trinucleotide Repeats