Neuropediatrics 2012; 43 - PS13_07
DOI: 10.1055/s-0032-1307095

Bannayan-Riley-Ruvalcaba-Syndrome – a rare differential diagnosis in children with macrocephaly

A Schwerin-Nagel 1, S Uhrig 2, E Heitzer 2, K Wagner 2, U Gruber-Sedlmayr 1, P Lindbichler 3, M Brunner-Krainz 1
  • 1Univ. Klinik für Kinder- und Jugendmedizin, Graz, Austria
  • 2Institut für Humangenetik, Med. Universität Graz, Graz, Austria
  • 3Univ. Klinik für Radiologie, Graz, Austria

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.