Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation and basal normal cortisol levels.
Case presentation: A term newborn, 46 XY, normal weight, male phenotype, with a severe craniosynostosis (turribrachycephalic skull shape), extreme ocular proptosis (unable to close eyelids), hand an feet malformation presented early respiratory insufficiency and needed mecanic ventilation. At 15 days of life, had clinical supection of adrenal insufficiency due to skin pigmentation and lowering of serum sodium. Hydrocortisone (HC) was initiated and 3 days later also fludrocortisone, with further normalization of eletrolytes. Neonatal screening was collected after 1 dose of HC and 17 OHP levels were 733 ng/ml. Salt-wasting congenital adrenal hyperplasia (CAH) diagnosis was made. At 42 days of life, do to upper respiratory distress, was transfered to a terciary complexity hospital. No signs of radioumeral or oder multiple synostoses and skeletal fractures were clinical or radiological observed in this patient. Cranial CT and MR showed severe medium face hypoplasia, corpus callosum and septum pellucidum absence, posterior fossa with Arnold -Chiari type 1 and cloverleaf skull, suggesting Crouzon or Pfeiffer Syndrome aspects. To avoid compressive complications of craniosynostosis, an early neurosurgical approach was performed. Clinical signals of macrogenitossomia and cutaneous hyperpigmentation atenuatted after glucocorticoid doses were ajusted.
Conclusion: We presented a patient with a severe syndrome with clinical aspects of FGFR mutations craniosynostosis and classical salt losting CAH in a different clinical presentation than in ABS, the first hypothesis advented, when features of craniosynostosis and steroidogenesis impairment are present.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology