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Abstract Ref Number = APCP860
Poster Presentation
CORNELIA DE LANGE SYNDROME TYPE 1
Anny Mariani Sanusi,Martira Maddeppungeng,Besse Sarmila
Growth Development and Social Pediatric Division Department of Child Health Hasanuddin University Medical School dr Wahidin Sudirohusodo Hospital Makassar
Background : Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. Incidence of Cornelia de Lange syndrome has been estimated from 1 in 10,000 to 1 in 30,000 newborns. The diagnosis is based on clinical criteria or on detection of a pathological variant in one of the five disease causing genes - NIPBL, RAD21, SMC3, HDAC8 or SMC1A
Case Presentation Summary : A 3-year and 9-month old girl admitted to Dr. Wahidin Sudirohusodo hospital because she was not able to stand or sit up straight, and delayed speech. On physical examination there was microcephaly, dysmorphic feature, long eyelash, ptosis, narrow nose, low seat ear, thin lips, hirsutism. Antropometri: BW/BH < -3 SD Z-Score WHO, short strature and global developmental delay. Laboratory finding revealed normal blood routine, normal ferritin and calsium level, FT4 0,79 mg/dl, and TSHS 0,27 mg/dl. Bone age revealed appropriate for 2 years and 6 months old girl. Echocardiography revealed moderate PDA and PFO. Based on physical and laboratory examination showed sign and symptoms of type I (classic) CdLS. The treatment consisted of nutritional management, intervention for developmental delay, hormonal therapy (levothyroxine), medical rehabilitation and catch-up imunization. Continuous growth and development monitoring is required
Learning Points/Discussion : CdLS is a rare syndrome. Although the diagnosis can be established based on history taking, physical examination, and radiological finding, genetic examination is still required. Treatment is early multidisciplinary team approach management related to condition of the child. The prognosis is dubious
Keywords: Cornelia de Lange Syndrome developmental delay growth retardation
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