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The in utero ultrasonographic appearance of Klippel-Trenaunay-Weber syndrome
972
Communications
April Am. Jo Obstet.
in brief
15, 1981 Gynecol.
chemotherapy is not specific with regard to original histology, sex, or chemotherapeutic regimen. The present case demonstrates that redifferentiation also is not specific with respect to final histology. ‘Three hypotheses, not mutually exclusive, have been proposed for this phenomenon’: The first is that chemotherapy destroys some cell lines selectively, leaving others to proliferate; the second is that chemotherapy induces differentiation; the third is that there is a natural tendency for germ cell tumors to undergo benign differentiation. The natural history of malignant germ cell tumors untreated with chemotherapy makes the last hypothesis unlikely. No aspect of’this case compels acceptance of one of the first two theories to the exclusion of the other. However, it is attractive to hypothesize that the chetnotherapy destroyed all of the cell lines except the dysgerminomatous elements, allowing these to proliferate. REFERENCES
1. DiSaia, P. J., Saltz, A., Kagan, A. R., and Morrow, C. P.: Chemotherapeutic retroconversion of immature teratoma of the ovary, Obstet. Gynecol. 49:346, 1977. 2. Hong, W. K., Wittes, R. E., Hajdu, S. T., Cvitkovic, E., Whitmore, W. F., and Goldberg, R. B.: The evolution of mature teratoma from malignant testicular tissues, Cancer 40:2987, 1977.
The in utero ultrasonographic appearance of Klippel-Trenaunay-Weber syndrome CHRISTOS G. HATJIS, ALIS’I‘AIR G. PHILIP, GERALD G. ANDERSON, I.EOS 1. MANN, M.D. lkpnrtments C’nirmsi/y l’rrmont
of Obstetrics
of ‘Vermont
M.D. M.D. M.D
and Gynecology and Pediatrics, College of’ Medicine, Burlington,
Lj I.-I KASONOGRAPH Y is extensively utilized for the in utero diagnosis and treatment of various fetal disorders.’ M’e recently examined an infant with phenotypic abnormalities consistent with Klippel-Trenaunayby&et- syndrome. In the prenatal period, ultrasound and amniofetography were utilized to delineate the nature of‘ the fetal abnormalities. The uncertainties we to other encountered in this case may be instructive physicians. Reprint requests: Christos G. Hatjis, M.D., Department of Obstetrics and Gynecology, University of Vermont College of Medicine, Given Building-Room C-248, Burlington, Vermont 05405. OOO2-9378/81/080972+03$00.30/0
0
1981 The
C. V. Mosby
Co
Fig. 1. This ultrasound examination (Picker, Model SOL) demonstrates the presence of echolucent (cystic) areas in the anterior aspect of the thorax and the anterior abdominal wall as well as in the area of the lower extremities. A healthy, 34.year-old, gravida 1, para 0 woman was referred to MCHV at 30 to 34 weeks’ gestation for evaluation of suspected fetal anomalies. Her antepartum course had been uncomplicated except for a size-dates discrepancy. Her past medical history and family history were unremarkable. The patient’s husband had been taking therapeutic doses of phenobarbital for long-standing epilepsy. The patient was a hairdresser. Initial ultrasound examinations performed by the referring physician were interpreted as suggestive of an anomalous fetus. Our ultrasound examinations revealed a singleton fetus in a vertex presentation with a posteriorly implanted placenta. The biparietal diameter was consistent with 34 weeks’ gestation. Polyhydramnios was noted. Multiple echolucent areas (Fig. 1) were seen. An amniocentesis was performed to obtain amniotic fluid for chromosomal karyotyping (46,XY) and alpha-fetoprotein determination (not detectable) as well as to inject radiopaque dyes (15 ml of Renografin-76 and 8 ml of 37% Ethiodol). As shown in Fig. 2, amniofetography confirmed the ultrasonographic findings. The tentative diagnoses included abdominal wall defects. Two weeks later, the patient had an uncomplicated vaginal delivery of a male infant (birth weight 2,470 gm). Physical examination was unremarkable except for the following findings: There was a 4 by 5 cm fluctuant mass with some firm areas and a superficial 1 by 1 cm area of necrotic skin located over the left anterior chest wall, displacing the nipple downward and laterally (Fig. 3). Furthermore, there were two fluid-filled, mobile sacs distorting the upper torso and left thigh (Fig. 4). Solitary, firm, mobile nodules were noted in the right forearm, left ankle, and left forehead (1 by 1 cm). Finally, there appeared to be a left lower-extremity hypertrophy.
Volume Number
139 8
Communications
in brief
973
3. Note the anterior chest wall lesion as well as the sacs distorting the anterior abdominal wall and left thigh. The abdominal lesion was blue in color while the darker area within its borders was characterized by its port wine staining.
Fig.
Fig. 2. This x-ray film was taken 24 hours after the instillation of the dyes into the amniotic cavity. Note the abnormal outline in the areas of the anterior abdominal wall and left thigh. Contrast material is seen in the small bowel.
Follow-up examinations at 3 and IO months revealed partial or complete resolution of this infant’s hemangiomas. His development has been normal and he has had no medical complications.
Fig. 4. This photograph demonstrates the cystic masses in the left flank, thigh, and posterior chest wall.
This syndrome was originally reported by Klippel and Tenaunay in 1900. In 1907, Parkes-Weber added the infrequent finding of an atrioventricular fistula. Less than 200 cases have been reported in the literature. The syndrome occurs sporadically and its etiology is unknown.’ It is characterized by the presence of asymmetric limb hypertrophy and large cutaneous hemangiomas. The limb hypertrophy (both osseous and soft tissue) may not necessarily coincide with the area of hemangiomatous involvement. The hemangiomas vary greatly in size and distribution. They are more commonly located on the legs, buttocks, abdomen, and lower torso. Visceral hypertrophy and hemangiomas may also occur. Bony growth abnormalities, arthritis, chronic skin difficulties, atrioventricular fistula-related complications, and intravascular clotting problems are some of the difficulties that patients with the syndrome have
encountered. Surgical intervention is often required for correction of one or more of these problems. Our patient demonstrated many of the previously described features of the syndrome. To date, some of the hemangiomas have either resorbed or diminished in size. Cosmetic surgery is planned in the future to correct some of those remaining. There is no evidence to suggest that this infant has visceral hypertrophy or hemangiomas. This is the first reported case of in utero manifestations of the Klippel-Trenaunay-Weber syndrome. Both ultrasonography and amniofetography clearly described the presence of “echolucent” areas which, in retrospect, represented the cutaneous hemangiomas and “lymphangiomas.” The additional power of resolution offered by amniofetography, the presence of fetal swallowing function, the amniotic fluid chromosomal analysis, and
974
Communications
April
in brief Am. J.
alpha-fetoprotein determination were all extremely helpful in the management of this patient. This information can be very useful in differentiating between fetuses with the syndrome and situations where the fetuses have abdominal wall defects or neural tube defects.’ Since both the obstetric management and the ultimate prognosis of patients with this syndrome are substantially different from those in cases with the more severe and crippling defects alluded to previously, it is important to make the diagnosis of the syndrome in utero.
15, 1981
Obstet. Gynecol.
REFERENCES
1. Hobbins, T. C., and Winsberg, F.: Ultrasonography in Obstetrics and Gynecology, Baltimore, 1977, The Williams & Wilkins Co. 2. Smith, D. W.: Recognizable Patterns of Human Malformation, ed. 2, Philadelphia, 1976, W. B. Saunders Co., pp. 306-307.
Communications
April Am. Jo Obstet.
in brief
15, 1981 Gynecol.
chemotherapy is not specific with regard to original histology, sex, or chemotherapeutic regimen. The present case demonstrates that redifferentiation also is not specific with respect to final histology. ‘Three hypotheses, not mutually exclusive, have been proposed for this phenomenon’: The first is that chemotherapy destroys some cell lines selectively, leaving others to proliferate; the second is that chemotherapy induces differentiation; the third is that there is a natural tendency for germ cell tumors to undergo benign differentiation. The natural history of malignant germ cell tumors untreated with chemotherapy makes the last hypothesis unlikely. No aspect of’this case compels acceptance of one of the first two theories to the exclusion of the other. However, it is attractive to hypothesize that the chetnotherapy destroyed all of the cell lines except the dysgerminomatous elements, allowing these to proliferate. REFERENCES
1. DiSaia, P. J., Saltz, A., Kagan, A. R., and Morrow, C. P.: Chemotherapeutic retroconversion of immature teratoma of the ovary, Obstet. Gynecol. 49:346, 1977. 2. Hong, W. K., Wittes, R. E., Hajdu, S. T., Cvitkovic, E., Whitmore, W. F., and Goldberg, R. B.: The evolution of mature teratoma from malignant testicular tissues, Cancer 40:2987, 1977.
The in utero ultrasonographic appearance of Klippel-Trenaunay-Weber syndrome CHRISTOS G. HATJIS, ALIS’I‘AIR G. PHILIP, GERALD G. ANDERSON, I.EOS 1. MANN, M.D. lkpnrtments C’nirmsi/y l’rrmont
of Obstetrics
of ‘Vermont
M.D. M.D. M.D
and Gynecology and Pediatrics, College of’ Medicine, Burlington,
Lj I.-I KASONOGRAPH Y is extensively utilized for the in utero diagnosis and treatment of various fetal disorders.’ M’e recently examined an infant with phenotypic abnormalities consistent with Klippel-Trenaunayby&et- syndrome. In the prenatal period, ultrasound and amniofetography were utilized to delineate the nature of‘ the fetal abnormalities. The uncertainties we to other encountered in this case may be instructive physicians. Reprint requests: Christos G. Hatjis, M.D., Department of Obstetrics and Gynecology, University of Vermont College of Medicine, Given Building-Room C-248, Burlington, Vermont 05405. OOO2-9378/81/080972+03$00.30/0
0
1981 The
C. V. Mosby
Co
Fig. 1. This ultrasound examination (Picker, Model SOL) demonstrates the presence of echolucent (cystic) areas in the anterior aspect of the thorax and the anterior abdominal wall as well as in the area of the lower extremities. A healthy, 34.year-old, gravida 1, para 0 woman was referred to MCHV at 30 to 34 weeks’ gestation for evaluation of suspected fetal anomalies. Her antepartum course had been uncomplicated except for a size-dates discrepancy. Her past medical history and family history were unremarkable. The patient’s husband had been taking therapeutic doses of phenobarbital for long-standing epilepsy. The patient was a hairdresser. Initial ultrasound examinations performed by the referring physician were interpreted as suggestive of an anomalous fetus. Our ultrasound examinations revealed a singleton fetus in a vertex presentation with a posteriorly implanted placenta. The biparietal diameter was consistent with 34 weeks’ gestation. Polyhydramnios was noted. Multiple echolucent areas (Fig. 1) were seen. An amniocentesis was performed to obtain amniotic fluid for chromosomal karyotyping (46,XY) and alpha-fetoprotein determination (not detectable) as well as to inject radiopaque dyes (15 ml of Renografin-76 and 8 ml of 37% Ethiodol). As shown in Fig. 2, amniofetography confirmed the ultrasonographic findings. The tentative diagnoses included abdominal wall defects. Two weeks later, the patient had an uncomplicated vaginal delivery of a male infant (birth weight 2,470 gm). Physical examination was unremarkable except for the following findings: There was a 4 by 5 cm fluctuant mass with some firm areas and a superficial 1 by 1 cm area of necrotic skin located over the left anterior chest wall, displacing the nipple downward and laterally (Fig. 3). Furthermore, there were two fluid-filled, mobile sacs distorting the upper torso and left thigh (Fig. 4). Solitary, firm, mobile nodules were noted in the right forearm, left ankle, and left forehead (1 by 1 cm). Finally, there appeared to be a left lower-extremity hypertrophy.
Volume Number
139 8
Communications
in brief
973
3. Note the anterior chest wall lesion as well as the sacs distorting the anterior abdominal wall and left thigh. The abdominal lesion was blue in color while the darker area within its borders was characterized by its port wine staining.
Fig.
Fig. 2. This x-ray film was taken 24 hours after the instillation of the dyes into the amniotic cavity. Note the abnormal outline in the areas of the anterior abdominal wall and left thigh. Contrast material is seen in the small bowel.
Follow-up examinations at 3 and IO months revealed partial or complete resolution of this infant’s hemangiomas. His development has been normal and he has had no medical complications.
Fig. 4. This photograph demonstrates the cystic masses in the left flank, thigh, and posterior chest wall.
This syndrome was originally reported by Klippel and Tenaunay in 1900. In 1907, Parkes-Weber added the infrequent finding of an atrioventricular fistula. Less than 200 cases have been reported in the literature. The syndrome occurs sporadically and its etiology is unknown.’ It is characterized by the presence of asymmetric limb hypertrophy and large cutaneous hemangiomas. The limb hypertrophy (both osseous and soft tissue) may not necessarily coincide with the area of hemangiomatous involvement. The hemangiomas vary greatly in size and distribution. They are more commonly located on the legs, buttocks, abdomen, and lower torso. Visceral hypertrophy and hemangiomas may also occur. Bony growth abnormalities, arthritis, chronic skin difficulties, atrioventricular fistula-related complications, and intravascular clotting problems are some of the difficulties that patients with the syndrome have
encountered. Surgical intervention is often required for correction of one or more of these problems. Our patient demonstrated many of the previously described features of the syndrome. To date, some of the hemangiomas have either resorbed or diminished in size. Cosmetic surgery is planned in the future to correct some of those remaining. There is no evidence to suggest that this infant has visceral hypertrophy or hemangiomas. This is the first reported case of in utero manifestations of the Klippel-Trenaunay-Weber syndrome. Both ultrasonography and amniofetography clearly described the presence of “echolucent” areas which, in retrospect, represented the cutaneous hemangiomas and “lymphangiomas.” The additional power of resolution offered by amniofetography, the presence of fetal swallowing function, the amniotic fluid chromosomal analysis, and
974
Communications
April
in brief Am. J.
alpha-fetoprotein determination were all extremely helpful in the management of this patient. This information can be very useful in differentiating between fetuses with the syndrome and situations where the fetuses have abdominal wall defects or neural tube defects.’ Since both the obstetric management and the ultimate prognosis of patients with this syndrome are substantially different from those in cases with the more severe and crippling defects alluded to previously, it is important to make the diagnosis of the syndrome in utero.
15, 1981
Obstet. Gynecol.
REFERENCES
1. Hobbins, T. C., and Winsberg, F.: Ultrasonography in Obstetrics and Gynecology, Baltimore, 1977, The Williams & Wilkins Co. 2. Smith, D. W.: Recognizable Patterns of Human Malformation, ed. 2, Philadelphia, 1976, W. B. Saunders Co., pp. 306-307.