Seckel syndrome is an inherited autosomal recessive disorder characterized by short stature, microcephaly, prominent nose, and typical facial appearance. DNA damages can be detected in different genes, mainly in 3rd and 18th chromosomes. By means of its genetic heterogeneity and easily detectable morphological features, clinical diagnosis can usually be made.
A 19-year-old female patient was diagnosed with Seckel syndrome in pediatric clinic due to typical features of this syndrome at the age of 15. The patient, who already had type 1 DM, applied to our clinic in order to be followed.
On physical examination, prominent nose, flat forehead, micrognathia, high-arched palate, triangular narrow face, and large pinnae were present. On physical examination, height was 136 cm, weight 40 kg, and BMI was 21.63 kg/m2. Clinodactyly, nail dystrophy, and mental retardation were detected. On cardiac examination, systolic ejection pulse on pulmonary focus was detected. There was no narrative of consanguineous marriage. Her treatment was metformin 500 mg 2x1, pioglitazone 15 mg 2x1, lispro insulin 3x9 units, and glargine insulin 16 units. Her menstrual period was regular. In laboratory examination, FBG was 101 mg/dL, HbA1c was 8.6%, B12 was 176 pg/mL (197-866), hypophyseal hormones were normal. Euthyroid Hashimoto thyroiditis was present. In echocardiography, ASD secundum 6-7 mm was detected. Vitamin B12 replacement was started; pioglitazone was stopped while the doses of insulin were increased. Last value of HbA1c was 6.6%.
Owing to its genetic heterogeneity, molecular prenatal diagnosis is difficult. Involvements may occur in endocrine, cardiac, gastrointestinal, and hematological systems.