ESPE Abstracts

Beckwith-Wiedemann syndrome is a congenital imprinting condition with a heterogenous clinical presentation of overgrowth and an increased childhood cancer risk. Hemangiomas are a rare presentation, while association with diaphragmatic eventration and congenital hypothyroidism was reported even more rarely. This case highlights the presence of some rare anomalies which may be associated with BWS.

Case presentation: Personal and disease history: Second child in family, spontaneous vaginal birth in district maternity with birth length- 52 cm and birthweight- 4200 g (>2 SDS) The child has manifested hypoglycemia immediately after birth, at thyroid examination congenital hypothyroidism was revealed and two small cutaneous hemangiomas were noted. Clinical details: A 6-month-old female, belonging to the Albanian Ethnicity, weighing 6.8 kg and 66 cm high was dmitted to intensive care unit due to severe hypoglycemic crisis and respiratory distress. Clinical and laboratory findings: Glicemia-0.7 mmol/L, Insulin 62 uIU/ml; HbA1c – 2.8 %; fT3 – 1.38 pmol/L; fT4- 3.05 pmol/L; TSH- 20.8 uIU/ ml; PH- 7.02 mmol/l; PCO2 – 109 mmHG; CRP -151 mg/L. All other laboratory parameters are at the normal range. At clinical examination, macroglossia, umbilical hernia and ear creases were noted. Multiple cutaneous hemangiomas were evident in different parts of body, the biggest one was 3.5 cm on the lateral left forearm. On chest X-ray, diaphragmatic eventration and pulmonary consolidation were described. According to NORD Clinical diagnosis of classical BWS, our case were noted with 12 poins, meeting the criteria for classical BWS, furthermore the genetic analysis showed abnormal methylation in L1T1 (BWSIC2) in the 11p15.5 region, consistent with BWS. On the other hand, on thyroid ultrasound and scintigraphy no thyroid tissue was noticed, compatible with congenital athyreosis.

Discussion: While hemangiomas, especially hepatic hemangiomas, are sometimes reported in association with BWS, the reported associations between BWS and hypothyroidism in the literature are small in number and all varied. Congenital hypothyroidism may reflect the normal incidence of congenital or causally related hypothyroidism. Moreover, diaphragmatic eventration was described in only a few reports, so early clinical awareness of this condition may have an impact on the prognosis.

Conclusion: hypothyroidism and BWS can coexist in a small number of cases and there can be a genetic association. Multiple cutaneous hemangiomas may also be associated with BWS and diaphragmatic eventration should be suspected in a patient with BWS and pulmonary consolidation