96. Jahrestagung der Deutschen Gesellschaft für Pathologie e. V ...

Abstracts
perspiratory and sebaceous glands. Very scarce scalp hair. Additionally,
a megacystis with pseudodiverticulum and dilatated and sidled ureters.
Conclusions. This fetus presented classic findings of the EEC syndrome.
Because of the additional urogenital anomalies the diagnosis was expanded
to ectrodactyly ectodermal dysplasia syndrome with urinary tract
pathology (EECUT).
SA-P-074
Femur fibula ulna (FFU) complex
A .M . Müller1 , S . Detering2 , U . Gembruch3 1 2 University Bonn Medical Center, Institute of Pathology, Bonn, University
Bonn Medical Center, Institute of Pathology, Bonn, 3University Bonn Medical
Center, Dept . of Prenatal Medicine and Obstetrics, Bonn
Aims. Femur fibula ulna (FFU) complex is a sporadic, non-lethal malformation
characterized by typical unilateral combination of defects of the
femur and fibula and contralateral defect of the ulna.
Methods. We present a fetus of 23 weeks of gestation of consanguine parents.
Results. Macroscopically the fetus showed a short collar, hypertelorism,
slightly down sloping palpebral fissures, short, flat nose, small lips and
high arched palate and dysmorphic ear concha. In comparison to the
right side, left sided upper and lower leg were significantly shortened, the
foot appeared as clubfoot. Furthermore, in comparison to the left side,
the right forearm was shortened, the right hand displaying four fingers
and an aplasia of the thumb.
Conclusions. Etiology of the sporadically occurring FFU complex is unknown.
Up to now there are no signs a paternal age effect or an association
with consanguinity. Neither could chromosomal studies reveal any
abnormalities. Furthermore there is no evidence for an infectious or teratogenic
cause. Children show normal mental development and normal
life expectancy. As – dependent on the number of involved malformed
limbs – the FFU complex is grouped in four groups (I–IV) this case can
be assigned to type II.
SA-P-075
Fetal manifestation of the Peters’ plus syndrome associated with
lenticular ectopia and occipital meningocele in one of the cases
K . Schoner1 , J . Kohlhase2 , J . Steinhard3 , R . Bald4 , A . Schwan5 , P . Wieacker6 ,
H . Rehder1 1 2 Philipps University Marburg, Institute of Pathology, Marburg, Praxis of
Human Genetics, Freiburg, 3Department of Obstetrics, Münster, 4Clinic of
Gynecology, Leverkusen, 5Division of Human Genetics, Dortmund, 6Institute of Human Genetics, Münster
Aims. Fetal pathology aims to recognize syndrome specific patterns of
malformations and dysmorphic features for goal directed mutation analyses,
genetic counselling of the parents and early prenatal molecular
diagnoses in consecutive pregnancies. Here we report on four fetuses
with Peters’ plus syndrome from two distinct families.
Methods. We performed fetal autopsies after prenatal ultrasound diagnoses
of malformations and termination of pregnancy and carried out
molecular genetic investigations on fetal and parental DNA.
Results. Four fetuses of 16 to 22 gestational weeks presented with multiple
malformations and dysmorphic signs in addition to Peters’ anomaly of
the eyes. The latter comprised central sclerocornea, absence of the posterior
corneal stroma, and a variable degree of iris and lenticular attachments
to the central posterior cornea in association with microphthalmia
and lenticular ectopia. Additional features concerned hydrocephaly,
a characteristic round face with cleft lip and palate, hypertelorism and
prominent front, short stature, brachydactyly, and also cardiac, renal,
genital and cerebral malformations including occipital meningocele. Peters’
plus syndrome was confirmed by sequence analysis of the B3GALTL
gene revealing homozygosity for the common 660+1G>A donor splice
162 | Der Pathologe · Supplement 1 · 2012
site mutation in intron 8 in all four cases and heterozygosity for this mutation
in the Caucasian, non-consanguineous parents.
Conclusions. The four affected fetuses show a characteristic facial aspect
that in association with the accompanying malformations should enable
the diagnosis of a Peters’ plus syndrome. Peters’ anomaly of the eyes,
representing an evolutive feature, is already evident at 18 weeks of gestation.
However, manifestation of the disorder is variable. Occipital meningocele
is a novel finding in Peters’ plus syndrome.
SA-P-076
Massive ovarian edema (MOE)
V . Sailer1 , S . Huss1 , F . Fronhoffs1 , E . Wardelmann1 , A .M . Müller1 1University Clinic of Bonn, Institute of Paidopathology and Institute of
Pathology, Bonn
Aims. Massive ovarian edema (MOE) is a very rare benign tumor-like
condition found in young women resulting from accumulation of fluid
mostly due to partial or intermittent torsion of the ovary or secondary to
a pre-existing ovarian lesion.
Methods. We report a case of a 13-year-old girl that presented with an
ovarian mass measuring 16 cm in diameter. Ultrasound and CT-scan
revealed a multilobulated cystic mass. CA-12-5 levels were increased.
Concerns regarding underlying malignancy lead to unilateral salpingooophorectomy.
Results. Pathological evaluation revealed a MOE and multiple thromboses
of ovarian veins.
Conclusions. Differentiation MOE from malignant tumor is crucial to
prevent unnecessary surgery potentially resulting in hormonal dysfunction
and infertility. Conservative treatment is possible and may be more
appropriate in cases when histology on frozen section supports a benign
lesion.
SA-P-077
Infantile myofibroma of the thyroid gland
A . Agaimy1 , D . Schmidt2 , P . Klein3 , R . Carbon4 , W . Holter5 1Friedrich-Alexander University of Erlangen, Institute of Pathology, Erlangen,
2Friedrich-Alexander University of Erlangen, Department of Nuclear Medicine,
Erlangen, 3Friedrich-Alexander University of Erlangen, Department of
Surgery, Erlangen, 4Friedrich-Alexander University of Erlangen, Department
of Surgery, Erlangen, 5Friedrich-Alexander University of Erlangen, University
Children‘s Hospital, Erlangen, Erlangen
Aims. Spindle cell lesions of the thyroid gland are rare and may thus be
diagnostically challenging. They encompass a heterogeneous group of
reactive mesenchymal lesions, and a variety of benign and malignant
neoplasms of epithelial and mesenchymal origin.
Methods. A 5-year-old girl presented with a rapidly growing firm nodular
cervical mass localized to the right thyroid lobe associated with bilateral
lymphadenopathy. Because of symptoms and concern about malignancy,
an open surgical biopsy was performed followed by resection
of the right lobe and biopsy of the cervical nodes. The patient is alive with
no evidence of recurrence 18 months after surgery.
Results. The specimen contained a 3.8 cm firm tan circumscribed nodular
mass surrounded by a thin rim of thyroid tissue. Histological examination
displayed a moderately cellular lesion composed of alternating
fascicles of eosinophilic myoid spindled cells and primitive looking
small rounded cells with hemangiopericytoma-like vascular pattern and
a prominent myointimal proliferation at the periphery of the lesion. The
myoid cells expressed strongly alpha-smooth muscle actin but were negative
for desmin, h-caldesmon, epithelial membrane antigen, pankeratin,
CK7, thyroglobulin, TTF-1, protein S100, TLE1, ALK-1, beta-catenin,
CD31, CD34 and CD99. The lymph nodes showed reactive florid hyperplasia
without evidence of tumor.