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DOI: 10.1055/s-0032-1307095
Bannayan-Riley-Ruvalcaba-Syndrome – a rare differential diagnosis in children with macrocephaly
Introduction:
Bannayan-Riley-Ruvalcaba-Syndrom (BRRS) belongs like Cowden Syndrome, Lhermitte-Duclos Disease and Proteus Syndrome to PTEN harmatoma tumor syndromes (PTHS). PHTS is characterised by germline mutations of the tumor suppressor gens PTEN. Lipomas are also indicative for BRRS.
Case:
We report on a child with conspicuous macrocephaly at birth (head circumference 39.5cm; >>97th centile). The 1st child of healthy non-consanguinous parents was born by Caesarean. APGAR 9/10/10. Birth weight 3920g (90th centile), birth length 55cm (90th centile).
Development: sitting 8 months, standing 15 months, walking 18 months, first words 18 months.
Syndromal features: high frontal hairline, prominent front, de- and hypopigmented areas on front head and left leg, hypertelorism, upward slanted eyelid and small chin.
Course: At age 2.5yrs. excision of a lipoma right costal edge. At age 5yrs. Lipoma lumosacral was detected Head circumference was spacious outgrowing of 97th centile (8yrs. head circumference 59cm; 7cm >97th). Weight and length was otherwise growing conform to centiles (90th-9th centile).
Further diagnostics at 5yrs: cMRI: 3mm hypointense lesion (T1 and T2) without KM-enhancement at the merge of Adeno- to Neurohypophysis. Sonography abdomen lumbalsacral lipoma next to the colon; sonography thyroid: in both parts of thyroid small nodules with high vascularisation; Gastroscopy: single polyp in duodenum, Coloscopy: 5 rectal harmatous polyps. Developmental test (ET6–6): normal
Endocrinology: thyroid hormones, growth hormone diagnostic and hypophysal hormone testing normal
Genetics: Chromosomal analysis 46XX;
Mutation analysis: negative for
Heterozygote deletion of exon 5 in PTEN-Gen (10q23.3) was found in the child, but not in the parents.
Conclusion:
BRRS is a rare syndrome, but it should be taken in differential diagonstic consideration in children with macrocephaly. Detection of deletion in PTEN-Gene confirmed diagnosis of PTHS. Patients with PTHS should be frequently investigated to detect hamartomas in good time for excision. Causal therapy is not yet available.