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The in utero diagnosis of a posterior fossa intracranial cyst (Dandy-Walker cyst)
Volume Number
Communications
140 4
in brief
473
cosis is not clear. One hypothesis is that thyrotoxicosis results from iodide repletion of autonomous but iodidedeficient thyroid tissue. Thus, iodine-induced thyrotoxicosis usually occurs in iodide-deficient patients with autonomous thyroid function. It may also occur in patients who are not iodide deficient and who have normal thyroid glands, a phenomenon which remains unexplained. Iodide absorption may cause postpartum exacerbation of maternal Graves’ disease, which has heretofore been attributed to immunologic factors. However, since pregnant patients are relatively iodide depleted,2 autonomous thyroid function may be masked by lack of substrate iodide. Subsequent vaginal iodide absorption, even in small amounts, could exacerbate the disease. Furthermore, the influence of absorbed iodine on fetal thyroid function is unknown. Iodide affects thyroid function in patients with normal or abnormal thyroid glands. Since iodide is readily absorbed via the vaginal mucosa, application of iodophors to the vaginal mucosa should be expected to cause thyroid disease in some patients. We express
our
appreciation
assistance in the preparation
to Ruby Hill for of this manuscript.
her technical
REFERENCES
1. King, I. R., and Diddle, A. W.: Protein-bound iodine and T, tests after vaginal application of povidone-iodine, AM. J. OBSTET. GYNECOL. 10&l 175, 1970. 2. Crooks, J., Tulloch, M. I., Turnbull, A. C., Davidson, D., Skulason, T., and Snaedal, G.: Comparative incidence of goiter in pregnancy in Iceland and Scotland, Lancet 2:625, 1967.
G.
HATJIS,
JEFFREY
D.
HORBAR,
GERALD
G.
ANDERSON,
M.D. M.D. M.D.
Departments of Obstetrics and Gynecology and Pediatrics, School of Medicine, University of Vermont, Burlington, Vermont ULTRASONOGRAPHY has been extensively utilized in the prenatal diagnosis and treatment of fetal disorders.’ Identification of selected fetal cranial abnor-
Reprint requests: C. G. Hat&, M.D., C-215, ing, Department of Obstetrics and Gynecology, Vermont, Burlington, Vermont 05405. 0002-9378/81/120473+03$00.30/0~
1981
The
Given BuildUniversity of
C. V. Mosby
was performed at the presence of a fossa of the fetal
malities, such as anencephaly, hydrocephalus, and teratoma, has been accomplished.’ Our recent experience in evaluating a fetus with a posterior fossa cystic lesion (compatible with a Dandy-Walker cyst) is the subject of this report.
The in utero diagnosis of a posterior fossa intracranial cyst (Dandy-Walker cyst) CHRISTOS
Fig. 1. The first ultrasound examination 23.5 weeks (Picker, 80-L). It demonstrates cystic lesion (CY)in the area of the posterior vertex.
Co.
A 39-year-old white woman, gravida 5, para 4, abortus 0, was referred for a baseline sonographic evaluation at 25 to 27 weeks’ gestation for presumed size-dates discrepancy. A posterior fossa cyst was identified (Fig. I). A progressive increase in the size of the cystic structure and gradual development of hydrocephalus were noted at subsequent examinations (Fig. 2, A and B). At 37 weeks’ gestation, the patient was delivered of a 2,070 gm female infant. Widely split cranial sutures and macrocephaly (head circumference = 36.5 cm, which is greater than the ninetieth percentile) were seen. A real-time ultrasound scan, performed shortly after birth, showed marked dilatation of the lateral and third ventricles as well as the presence of a large sonolucent cyst in the posterior fossa (Fig. 3, A and B). The membrane covering the cyst oscillated when the baby’s head was moved. CT scan confirmed the ultrasonographic findings. The infant died within 24 hours. Permission for autopsy was denied. Posterior fossa cysts (Dandy-Walker malformation, arachnoid cyst) are uncommon clinical entities. Al-
474
Communications
in brief
Fig. 2. Follow-up
ultrasound examinations were performed at 33.5 (A/ and 37 (B) weeks. Note the increase in the size of the cystic area (CY) and the gradual development of hydrocephalus. ‘There \~a\ a rapid enlargement of the lateral ventricles (VJ and an abnormal increase in the hiparietal diametrl (99 mm at an estimated gestational age of 37.5 weeks).
though
Fig. 3. Postnatal
ultrasound examinations (ADR Model 2130, 7.0 MHz linear array) were obtained with the anterior fontanelle used as an acoustic window. A modified coronal view (A) and midline sagittal view (LX) are shown. A large sonolucent posterior fossa cyst (CY) and dilated lateral ventricles are seen (Vi.
their
association
with
clinicail!
overt
hpdro-
cephalus has been well documented, ir is the location and the extent of these lesions as well as other less well-defined factors that appear to determine the time of onset and severity of the ventricular- enlargement.” The Dandy-Walker malformation is a syndrome of unknown etiology which consists of cystic dilatation of the fourth ventricle and agenesis or dysplasia of the cerebellar vermis. Other intracranial malformations as well as systemic anomalies have been reported to occur in some patients with the syndrome.z The DandyWalker malformation cannot be unequivocally distinguished from a posterior fossa arachnoid cyst by sonography or computerized tomography. Either more invasive studies or a postmortem esamination is required to establish the diagnosis. Intracranial arachnoid cysts can be congenital or acquired. They are commonly located in the middle or posterior fossa, the cerebral convexities, the suprasellal region, or in the region of the quadrigeminal cisterna. Midline lesions are most often associated with hydrocephalus. The prognosis of patients with Dandy-Walker malformation is variable since it depends on time of onset, extent, and severity of hydrocephalus as well as the presence of other congenital anomalies. Long-term survivors have been reported. The only effective form of treatment for patients with symptomatic hydrocephalus associated with a posterior fossa cyst is placement of a ventricular shunt.
Volume 140 Number-4
Communications
Although we cannot conclusively categorize the nature of the lesion in our patient, we believe that this case is instructive for two reasons: (1) The in utero, second-trimester diagnosis of posterior fossa cysts is feasible by readily available sonographic equipment*: (2) the natural history of the diseases can be established. Ultimately, this information may prove to be useful for the clinical management of fetuses and neonates with intracranial cysts amenable to correction. *Recently, Johnson and associates alluded to a case of a 28-week fetus with Dandy-Walker malformation (Johnson, M. L., Dunne, M. G., Mack, L. A., and Rashbaum, C. L.: Evaluation of fetal intracranial anatomy by static and real-time ultrasound, J. Clin. Ultrasound 8:311, 1980). REFERENCES
1. Hobbins, T. C., and Winsberg, F.: Ultrasonography in Obstetrics and Gynecology, Baltimore, 1977, The Williams & Wilkins Co. 2. Hart, N. M., Malamud, N., and Ellis, W. G.: The DandyWalker syndrome, Neurology 22:77 I, 1972.
ALEKSANDER
TALERMAN,
The patient, a black, first sought medical advice of 27 years. The mother had not been ill and had any drugs during gestation. An enlarged clitoris noted at the delivery by a midwife and the child was male. Breast enlargement began at 15 years. Since menses occurred regularly every 26 to 30 days and 5 days. The patient achieved erections of the phallus
intercourse
JARABAK,
ANTHONY
P.
M.D., AMAROSE,
Department-s of Obstetrics Medicine, The University GONADOBLASTOMA' dysgenetic gonads
but
M.D., PH.D. PH.D.
Gynecology, Pathology, and of Chicago, Chicago, Illinois occurs in true
in subjects hermaphrodites.
with
In an extensive review of 367 cases of true hermaphroditism, van Niekerk2 found only one case associated with gonadoblastoma and three cases associated with dysgerminoma. Two further cases of true hermaphroditism associated with gonadoblastoma have been described. Only one patient had a 46,Xx karyotype and was an adult when studied, but the history did not indicate whether menses had occurred. The patient described in the present communication had the habitus, karyotype, and plasma hormone values of a female, but an enlarged clitoris suggested previous, perhaps inThis study was supported in part by the Mother’s Aid Fund, Chicago Lying-In Hospital, and by Clinical Research Center Grant RR55, from the United States Public Health Service. Reprint requests: A. Talerman, M.D., Department of Obstetrics and Gynecology, University of Chicago, Chicago, Illinois 60637. 000‘2-9378/81/120475+03~00.30/0~1981
TheC.V.Mosby
had been as a time 3 to had
but did not ejaculate. Physical examination
re-
vealed the patient to have a female habitus with welldeveloped breasts, a high-pitched voice, no facial hair, pubic hair in a female escutcheon, an enlarged clitoris, fused labioscrotal folds, and a persistent urogenital sinus with a vagina and urethra leading to a common perineal meatus. The
uterus was hypoplastic and no gonads or prostatic tissue was palpable. Basal endocrine studies were all within the normal female range: estradiol, 77 f 20 pg/ml (5)*; progesterone, 116 2 75 ngiml (6); testosterone, 55 ? 21 (6); luteinizing hormone, 55 ? 13 (14); follicle-stimulating hormone, 406 -t 97 (17). Furthermore, during the hospitalization, sequential changes in estradiol, gonadotropins, and progesterone suggested that ovulation had occurred. Three days following the
of hCG (10,000 I.U.) the plasma testosterone this dose of hCG was repeated rose to 199 nglml. The patient
insisted on remaining male, and a bilateral mastectomy was performed after the completion of testing. This was followed by a hysterectomy and bilateral, salpingo-oophorectomy. The patient is well and disease free 6% years following surgery.
and
usually is rare
at the age not taken raised that lasted and
level rose to 175 rig/ml. When 10 days later, the testosterone
F.R.C.PATH. JOSEPH
475
trauterine exposure to higher androgen levels. Stimulation with human chorionic gonadotropin (hCG) was performed to determine whether the source of androgens was still present but latent. The response of serum testosterone was abnormal for a female and was compatible with the presence of androgen-producing cells.
administration
Gonadoblastoma and dysgerminoma in a true hermaphrodite with a 46,Xx karyotype
in brief
Co.
Giemsa-trypsin and quinacrine fluorescence banded chromosomes from cultures of blood and tissue from the left and right gonads demonstrated a 46,Xx karyotype. The excised specimen consisted of a uterus, two fallopian tubes, and two gonads, which were found at the site of normal ovaries. The uterus measured 7 by 3 by 2.2 cm and contained a normal cervix, measuring 2 cm in transverse diameter. The uterine cavity had a normal appearance and was lined by tan endometrium, 0.3 cm thick. A small, flat endometrial polyp projected into the uterine cavity and originated from the lower uterine segment. The myometrium and fallopian tubes were normal. The right gonad measured 2.4 by 2.2 by 1.0 cm and weighed 4.2 gm. It was smooth and gray-white with a few small hemorrhagic cysts on the surface. On crosssection several corpora albicantia and lutea, as well as a focus of spongy tan tissue and a few small cystic foci in its vicinity, were readily seen. The left gonad measured 2.5 by 2.0 by 1.3 cm and weighed 4.4 gm. It was smooth and gray-white with a few hemorrhagic cysts. Parts of the right and left go*Mean theses.
-t SEM
with
number
of determinations
in paren-
Communications
140 4
in brief
473
cosis is not clear. One hypothesis is that thyrotoxicosis results from iodide repletion of autonomous but iodidedeficient thyroid tissue. Thus, iodine-induced thyrotoxicosis usually occurs in iodide-deficient patients with autonomous thyroid function. It may also occur in patients who are not iodide deficient and who have normal thyroid glands, a phenomenon which remains unexplained. Iodide absorption may cause postpartum exacerbation of maternal Graves’ disease, which has heretofore been attributed to immunologic factors. However, since pregnant patients are relatively iodide depleted,2 autonomous thyroid function may be masked by lack of substrate iodide. Subsequent vaginal iodide absorption, even in small amounts, could exacerbate the disease. Furthermore, the influence of absorbed iodine on fetal thyroid function is unknown. Iodide affects thyroid function in patients with normal or abnormal thyroid glands. Since iodide is readily absorbed via the vaginal mucosa, application of iodophors to the vaginal mucosa should be expected to cause thyroid disease in some patients. We express
our
appreciation
assistance in the preparation
to Ruby Hill for of this manuscript.
her technical
REFERENCES
1. King, I. R., and Diddle, A. W.: Protein-bound iodine and T, tests after vaginal application of povidone-iodine, AM. J. OBSTET. GYNECOL. 10&l 175, 1970. 2. Crooks, J., Tulloch, M. I., Turnbull, A. C., Davidson, D., Skulason, T., and Snaedal, G.: Comparative incidence of goiter in pregnancy in Iceland and Scotland, Lancet 2:625, 1967.
G.
HATJIS,
JEFFREY
D.
HORBAR,
GERALD
G.
ANDERSON,
M.D. M.D. M.D.
Departments of Obstetrics and Gynecology and Pediatrics, School of Medicine, University of Vermont, Burlington, Vermont ULTRASONOGRAPHY has been extensively utilized in the prenatal diagnosis and treatment of fetal disorders.’ Identification of selected fetal cranial abnor-
Reprint requests: C. G. Hat&, M.D., C-215, ing, Department of Obstetrics and Gynecology, Vermont, Burlington, Vermont 05405. 0002-9378/81/120473+03$00.30/0~
1981
The
Given BuildUniversity of
C. V. Mosby
was performed at the presence of a fossa of the fetal
malities, such as anencephaly, hydrocephalus, and teratoma, has been accomplished.’ Our recent experience in evaluating a fetus with a posterior fossa cystic lesion (compatible with a Dandy-Walker cyst) is the subject of this report.
The in utero diagnosis of a posterior fossa intracranial cyst (Dandy-Walker cyst) CHRISTOS
Fig. 1. The first ultrasound examination 23.5 weeks (Picker, 80-L). It demonstrates cystic lesion (CY)in the area of the posterior vertex.
Co.
A 39-year-old white woman, gravida 5, para 4, abortus 0, was referred for a baseline sonographic evaluation at 25 to 27 weeks’ gestation for presumed size-dates discrepancy. A posterior fossa cyst was identified (Fig. I). A progressive increase in the size of the cystic structure and gradual development of hydrocephalus were noted at subsequent examinations (Fig. 2, A and B). At 37 weeks’ gestation, the patient was delivered of a 2,070 gm female infant. Widely split cranial sutures and macrocephaly (head circumference = 36.5 cm, which is greater than the ninetieth percentile) were seen. A real-time ultrasound scan, performed shortly after birth, showed marked dilatation of the lateral and third ventricles as well as the presence of a large sonolucent cyst in the posterior fossa (Fig. 3, A and B). The membrane covering the cyst oscillated when the baby’s head was moved. CT scan confirmed the ultrasonographic findings. The infant died within 24 hours. Permission for autopsy was denied. Posterior fossa cysts (Dandy-Walker malformation, arachnoid cyst) are uncommon clinical entities. Al-
474
Communications
in brief
Fig. 2. Follow-up
ultrasound examinations were performed at 33.5 (A/ and 37 (B) weeks. Note the increase in the size of the cystic area (CY) and the gradual development of hydrocephalus. ‘There \~a\ a rapid enlargement of the lateral ventricles (VJ and an abnormal increase in the hiparietal diametrl (99 mm at an estimated gestational age of 37.5 weeks).
though
Fig. 3. Postnatal
ultrasound examinations (ADR Model 2130, 7.0 MHz linear array) were obtained with the anterior fontanelle used as an acoustic window. A modified coronal view (A) and midline sagittal view (LX) are shown. A large sonolucent posterior fossa cyst (CY) and dilated lateral ventricles are seen (Vi.
their
association
with
clinicail!
overt
hpdro-
cephalus has been well documented, ir is the location and the extent of these lesions as well as other less well-defined factors that appear to determine the time of onset and severity of the ventricular- enlargement.” The Dandy-Walker malformation is a syndrome of unknown etiology which consists of cystic dilatation of the fourth ventricle and agenesis or dysplasia of the cerebellar vermis. Other intracranial malformations as well as systemic anomalies have been reported to occur in some patients with the syndrome.z The DandyWalker malformation cannot be unequivocally distinguished from a posterior fossa arachnoid cyst by sonography or computerized tomography. Either more invasive studies or a postmortem esamination is required to establish the diagnosis. Intracranial arachnoid cysts can be congenital or acquired. They are commonly located in the middle or posterior fossa, the cerebral convexities, the suprasellal region, or in the region of the quadrigeminal cisterna. Midline lesions are most often associated with hydrocephalus. The prognosis of patients with Dandy-Walker malformation is variable since it depends on time of onset, extent, and severity of hydrocephalus as well as the presence of other congenital anomalies. Long-term survivors have been reported. The only effective form of treatment for patients with symptomatic hydrocephalus associated with a posterior fossa cyst is placement of a ventricular shunt.
Volume 140 Number-4
Communications
Although we cannot conclusively categorize the nature of the lesion in our patient, we believe that this case is instructive for two reasons: (1) The in utero, second-trimester diagnosis of posterior fossa cysts is feasible by readily available sonographic equipment*: (2) the natural history of the diseases can be established. Ultimately, this information may prove to be useful for the clinical management of fetuses and neonates with intracranial cysts amenable to correction. *Recently, Johnson and associates alluded to a case of a 28-week fetus with Dandy-Walker malformation (Johnson, M. L., Dunne, M. G., Mack, L. A., and Rashbaum, C. L.: Evaluation of fetal intracranial anatomy by static and real-time ultrasound, J. Clin. Ultrasound 8:311, 1980). REFERENCES
1. Hobbins, T. C., and Winsberg, F.: Ultrasonography in Obstetrics and Gynecology, Baltimore, 1977, The Williams & Wilkins Co. 2. Hart, N. M., Malamud, N., and Ellis, W. G.: The DandyWalker syndrome, Neurology 22:77 I, 1972.
ALEKSANDER
TALERMAN,
The patient, a black, first sought medical advice of 27 years. The mother had not been ill and had any drugs during gestation. An enlarged clitoris noted at the delivery by a midwife and the child was male. Breast enlargement began at 15 years. Since menses occurred regularly every 26 to 30 days and 5 days. The patient achieved erections of the phallus
intercourse
JARABAK,
ANTHONY
P.
M.D., AMAROSE,
Department-s of Obstetrics Medicine, The University GONADOBLASTOMA' dysgenetic gonads
but
M.D., PH.D. PH.D.
Gynecology, Pathology, and of Chicago, Chicago, Illinois occurs in true
in subjects hermaphrodites.
with
In an extensive review of 367 cases of true hermaphroditism, van Niekerk2 found only one case associated with gonadoblastoma and three cases associated with dysgerminoma. Two further cases of true hermaphroditism associated with gonadoblastoma have been described. Only one patient had a 46,Xx karyotype and was an adult when studied, but the history did not indicate whether menses had occurred. The patient described in the present communication had the habitus, karyotype, and plasma hormone values of a female, but an enlarged clitoris suggested previous, perhaps inThis study was supported in part by the Mother’s Aid Fund, Chicago Lying-In Hospital, and by Clinical Research Center Grant RR55, from the United States Public Health Service. Reprint requests: A. Talerman, M.D., Department of Obstetrics and Gynecology, University of Chicago, Chicago, Illinois 60637. 000‘2-9378/81/120475+03~00.30/0~1981
TheC.V.Mosby
had been as a time 3 to had
but did not ejaculate. Physical examination
re-
vealed the patient to have a female habitus with welldeveloped breasts, a high-pitched voice, no facial hair, pubic hair in a female escutcheon, an enlarged clitoris, fused labioscrotal folds, and a persistent urogenital sinus with a vagina and urethra leading to a common perineal meatus. The
uterus was hypoplastic and no gonads or prostatic tissue was palpable. Basal endocrine studies were all within the normal female range: estradiol, 77 f 20 pg/ml (5)*; progesterone, 116 2 75 ngiml (6); testosterone, 55 ? 21 (6); luteinizing hormone, 55 ? 13 (14); follicle-stimulating hormone, 406 -t 97 (17). Furthermore, during the hospitalization, sequential changes in estradiol, gonadotropins, and progesterone suggested that ovulation had occurred. Three days following the
of hCG (10,000 I.U.) the plasma testosterone this dose of hCG was repeated rose to 199 nglml. The patient
insisted on remaining male, and a bilateral mastectomy was performed after the completion of testing. This was followed by a hysterectomy and bilateral, salpingo-oophorectomy. The patient is well and disease free 6% years following surgery.
and
usually is rare
at the age not taken raised that lasted and
level rose to 175 rig/ml. When 10 days later, the testosterone
F.R.C.PATH. JOSEPH
475
trauterine exposure to higher androgen levels. Stimulation with human chorionic gonadotropin (hCG) was performed to determine whether the source of androgens was still present but latent. The response of serum testosterone was abnormal for a female and was compatible with the presence of androgen-producing cells.
administration
Gonadoblastoma and dysgerminoma in a true hermaphrodite with a 46,Xx karyotype
in brief
Co.
Giemsa-trypsin and quinacrine fluorescence banded chromosomes from cultures of blood and tissue from the left and right gonads demonstrated a 46,Xx karyotype. The excised specimen consisted of a uterus, two fallopian tubes, and two gonads, which were found at the site of normal ovaries. The uterus measured 7 by 3 by 2.2 cm and contained a normal cervix, measuring 2 cm in transverse diameter. The uterine cavity had a normal appearance and was lined by tan endometrium, 0.3 cm thick. A small, flat endometrial polyp projected into the uterine cavity and originated from the lower uterine segment. The myometrium and fallopian tubes were normal. The right gonad measured 2.4 by 2.2 by 1.0 cm and weighed 4.2 gm. It was smooth and gray-white with a few small hemorrhagic cysts on the surface. On crosssection several corpora albicantia and lutea, as well as a focus of spongy tan tissue and a few small cystic foci in its vicinity, were readily seen. The left gonad measured 2.5 by 2.0 by 1.3 cm and weighed 4.4 gm. It was smooth and gray-white with a few hemorrhagic cysts. Parts of the right and left go*Mean theses.
-t SEM
with
number
of determinations
in paren-