저혈당성 경련으로 내원한 환자에서 진단된 Silver-Russell 증후군 1례
A Case of Silver-Russell Syndrome Diagnosed in the Patient Admitted with Hypoglycemic Seizure
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초록
저자들은 저혈당성 경련을 주소로 내원한 4세 여아에서 자궁 내 성장 지연, 출생 후 지속되는 저신장과 저체중, 몸에 비해 상대적으로 큰 머리, 신체의 좌우 비대칭, 특징적인 얼굴 모양을 보인 Silver- Russell 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
Abstract
The Silver-Russell syndrome(SRS) is a clinically heterogeneous syndrome characterized by intrauterine and postnatal growth retardation with spared cranial growth, characteristic facial features, and body asymmetry. Although mild to moderate hypoglycemic symptoms occasionally appear in children with SRS especially those who are not fed frequently and regularly, hypoglycemic seizures rarely occur. We report a rare case of SRS which was diagnosed in a 4-year-old female who admitted with hypoglycemic seizure. The patient showed the characteristic features of SRS. Endocrinologic studies were normal except for partial growth hormone insufficiency. To prevent seizures and chronic neurologic deficits in children with SRS, the early recognition and appropriate management of hypoglycemia is critical.
참고문헌 (17)
- Silver HK, "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins", Pediatrics, 12, pp.368~376 (1953)
- Russell A, "A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)", Proc R Soc Med, 47, pp.1040~1044 (1954)
- Price SM, "The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria", J Med Genet, 36, pp.837~842 (1999)
- Partington MW, "X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome", Clin Genet, 29, pp.151~156 (1986)
- Saal HM, "Reevaluation of Russell-Silver syndrome", J Pediatr, 107, pp.733~737 (1985)
- Hall JG, "Microphallus, growth hormone deficiency, and hypoglycemia in Russell-Silver syndrome", Am J Dis Child, 132, pp.1149~ (1978)
- Cassidy SB, "Russell-Silver syndrome and hypopituitarism. Patient report and literature review", Am J Dis Child, 140, pp.155~159 (1986)
- Azcona C, "Hypoglycaemia and Russell-Silver syndrome", J Pediatr Endocrinol Metab, 18, pp.663~670 (2005)
- Hitchins MP, "Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions", J Med Genet, 38, pp.810~819 (2001)
- Abu-Amero S, "The genetic aetiology of Silver-Russell syndrome", J Med Genet, 45, pp.193~199 (2008)
- Eggermann T, "Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome", Trends Genet, 24, pp.195~204 (2008)
- Eggermann T, "Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation", Pediatrics, 123, pp.e929~e931 (2009)
- Kumar S, "Silver-Russell syndrome: a case report", Cases J, 1, pp.304~ (2008)
- Daly LP, "Presenting features of idiopathic ketotic hypoglycemia", J Emerg Med, 25, pp.39~43 (2003)
- Lai KY, "Cognitive abilities associated with the Silver-Russell syndrome", Arch Dis Child, 71, pp.490~496 (1994)
- Noeker M, "Cognitive development in Silver-Russell syndrome: a sibling-controlled study", Dev Med Child Neurol, 46, pp.340~346 (2004)
- Azcona C, "Growth hormone treatment in growth hormone-sufficient and -insufficient children with intrauterine growth retardation", Russell-Silver syndrome, 1998, pp.50, 22~27