Postnatal neonatological intensive care, diagnostics, therapy
and diagnosis of PROS
A female infant was delivered weighing 3,450 g (74thpercentile), 49 cm length (27th percentile) and 35 cm
head circumference (71th percentile) by cesarean
section with neonatological standby of an ex-utero intrapartum treatment
(EXIT) procedure in 39th week of gestation
(Fig. 2 a, b). The newborn adapted well and presented in good condition:
APGAR 8/9/10, arterial umbilical cord pH 7.39. Initially, it required no
active management and was immediately transferred to the neonatologist
care unit. During inpatient stay, the infant underwent an extensive
interdisciplinary neonatological intensive care with regular ultrasound
and MRI follow-up (Fig. 2 c, d). The lymphangioma seemed to be stable.
With intention of tumor regression as well as obtaining tissue, several
sonographically controlled biopsies of the neck with multiple injections
of Picibanil (OK-432) and the partial resection of areas of the tumor
were performed. Attempting tumor size restriction with Propranolol,
based on the histopathological suspicion of a hemangioma and the
meanwhile significant tumor progression, failed. The histopathological
findings and the clinical presentation of the tumor rather suggested a
lymphangioma. In the meantime, an evaluation by ultrasound and MRIs of
the neck showed a semicircular tumor extension, reaching cranially to
the mastoid and intrathoracally to the carina with increasing
infiltration of the base of the tongue and marked constriction of the
cervical vessels without airway obstruction. With histopathological
evidence of markers of the mTOR pathway, associated with a number of
overgrowth disorders, a therapeutic approach with Sirolimus was
initiated and resulted in a minimal size reduction. Nearly during the
entire inpatient stay and despite an extensive interdisciplinary
management, the etiology of the lympangioma remained unclear and the
conventional molecular genetic investigation a challenging process. To
establish a final diagnosis next generation sequencing (NGS) was
performed and subsequently resulted in the detection of the missense
mutation c.1633G>A;p.Glu545Lys.