Hydrops fetalis associated with congenital myotonic dystrophy Ashraf M. Afifi, MD, Asha Rijhsinghani Bhatia, MD, and Fabian EyaJ, MD Baltimore, Maryland We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic dystrophy is not a rare cause of nonimmune hydrops fetalis as previously thought. (AM J OBSTET GVNECOL 1992;166: 929-30.)
Key words: Nonimmune hydrops fetalis, congenital myotonic dystrophy Various maternal and fetal conditions are associated with nonimmune hydrops fetalis. Failure to identify a causative agent remains a frequent dilemma because up to 30% of cases are called "idiopathic." Congenital myotonic dystrophy is an autosomaldominant muscle disorder that is rarely included among conditions associated with nonimmune hydrops fetalis. This report describes a case of congenital myotonic dystrophy presenting as fetal hydrops.
Case report A 2760 gm, female infant was born at 36 weeks' gestation to a 33-year-old multigravid mother with type A, Rh-positive blood. The mother had a history of slowly progressive lower-extremity weakness for the past few years. There was no family history of neuromuscular diseases. Previous pregnancies were uneventful and resulted in two healthy male children. The current pregnancy was complicated by worsening muscle weakness and progressive third-trimester polyhydramnios. The infant was delivered by cesarean section because of breech presentation. Post partum the mother had respiratory failure and required mechanical ventilation for a few days. The infant had Apgar scores of 2 and 5 at 1 and 5 minutes. Immediate resuscitation was required with intubation for poor respiratory effort. The infant remained severely hypotonic and continued to require mechanical ventilation. Generalized body edema was seen more extensively over the head and neck area. A "tented-shape" mouth was noted. Chest radiography revealed a right-sided pleural effusion and thin gracile ribs. Extensive scalp hematoma with no evidence of blood dyscrasia developed in the second week of life. Subsequently, edema
From the Departments of Neonatology and Obstetrics and Gynecology, Francis Scott Key Medical Center, The Johns Hopkins University. Received for publication June 25, 1991; revised October 9, 1991; accepted November 15,1991. Reprint requests: Ashraf Afifi, MD, Instructor in Pediatrics, Johns Hopkins University, Neonatology Division, Francis Scott Key Medical Center, 4940 Eastern Ave., Baltimore, MD 21224. 611135042
and pleural effusion resolved and she was weaned from mechanical ventilatory support by 3 weeks of age. Her initial feeding difficulty slowly improved and she was feeding normally by the time of discharge home at 2 months of age. The infant's blood type was A, Rh-positive and Coombs test negative. Karyotype was normal. A workup for congenital infection (TORCH [toxoplasmosis, rubella, cytomegalovirus, and herpes simplex] and parvovirus) was negative. Urine and serum screen for metabolic diseases gave normal results. The serum creatine phosphokinase level was within the normal range. Initial chest sonogram showed a right pleural effusion and a poorly moving and elevated right hemidiaphragm. The diagnosis of congenital muscular dystrophy was suspected by the characteristic maternal myopathic facies and myotonic grip. The mother's diagnosis was confirmed by neurologic consultation and abnormal results of electromyographic studies.
Comment Congenital myotonic dystrophy is rarely listed among the conditions associated with nonimmune hydrops fetalis. One recent study mentioned one case among 900 patients with nonimmune hydrops fetalis.' However, in the pediatric literature we could identify at least 10 cases of congenital myotonic dystrophy with hydropic features. 2.' Pregnancy with an affected infant is often complicated by polyhydramnios, decreased fetal activity, breech presentation, and prematurity. A spectrum of neonatal presentations with congenital myotonic dystrophy may range from the fetus who is lost in early abortion, through the preterm baby who dies soon after birth, to the term asymptomatic infant. Early neonatal diagnosis of congenital myotonic dystrophy is difficult and many affected infants may die early in life before the diagnosis can be made. In addition, clinical presentation is variable and nonspecific, and severely affected babies can be misdiagnosed as having perinatal asphyxia. Congenital myotonic dystrophy is a challenging di-
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agnosis that can be suggested by careful clinical evaluation of the mother and her newborn. In fully expressed disease the mother has a characteristic myopathic facies with hollow temples and myotonic grip. On the other hand, the mother may be so mildly affected that she is unaware of the disease. A negative family history does not rule out the possibility. Both muscle biopsy and electromyography give only suggestive evidence, and necropsy examination is nonspecific. Recently, localization of the congenital myotonic dystrophy gene on chromosome 19 with tightly linked deoxyribonucleic acid probes has facilitated prenatal diagnosis. Awareness of the association between congenital myotonic dystrophy and nonimmune hydrops fetalis is
March 1992
Am J Obstet Gynecol
important to reduce further the proportion of idiopathic nonimmune hydrops fetalis because congenital myotonic dystrophy might be a more frequent etiologic factor than previously thought. REFERENCES 1. Jauniaux E, Van Maldergem L, De Munter C, Moscoso G, Gillerot Y. Nonimmune hydrops fetalis associated with genetic abnormalities. Obstet Gynecol 1990;75:568-72. 2. Curry GjR, Chopra D, Finer NN. Hydrops and pleural effusions in congenital myotonic dystrophy. J Pediatr 1988;113:555-7. 3. Sarnat HB, O'Conor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonates. Arch Neurol 1976;33:459-65. 4. Harper PS. Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child 1975;50:505-13.
Vaginal injury resulting from sliding down a water chute Jacob Niv, MD, Joseph B. Lessing, MD, Joseph Hartuv, MD, and M. Reuben Peyser, MD Tel Aviv, Israel A 27-year-old woman was admitted to the hospital because of profuse vaginal bleeding from a vaginal laceration caused by the impact of water to the perineum after sliding down a water chute. At the time of the aCCident the patient was using a vaginal tampon. The potential mechanism for this trauma is discussed. (AM J OBSTET GVNECOL 1992;166:930-1.)
Key words: Vaginal trauma, water chute
A case of profuse vaginal bleeding caused by a slide down a water chute is described. Case report A 27-year-old healthy woman, gravida I, para 1, was initially seen at the emergency department with massive vaginal bleeding after trauma to the lower back and vulva. This occurred when she hit the water after sliding down a water chute. On admission the patient was conscious, pale, and had tachycardia to 120 beats/min. From the Department of Obstetrics and Gynecology "A," Tel-Aviv Sourasky Medical Center, Hakirya Maternity Hospital, Sackler Faculty of Medicine, Tel-Aviv University. Received for publication August 20, 1991,- revised October 17, 1991,accepted October 31, 1991. Reprint requests: Reuben M. Peyser, MD, Department of Obstetrics and Gynecology "A," Serlin Maternity Hospital, Hakirya, P.O. Box 7079, Tel Aviv 67441, Israel. 6/1134750 930
General examination revealed no special pathologic condition. The abdomen was soft without tenderness or guarding, but there was severe vaginal bleeding, tenderness, and swelling in the sacral area and the vulva. The patient advised that because she had been due to menstruate she had inserted a tampon that was present at the accident. However, she had removed the tampon before arriving at the hospital. On arrival in the emergency room, an intravenous line was established with lactated Ringer's solution. Hemoglobin count was 12 gm / dl, and hematocrit was 34 %. After the vagina was cleared of clots, the source of the bleeding was discovered to be a crescent-shaped laceration high in the left fornix. The patient was immediately transferred to the operating room and given a general anesthetic. A vaginal tear approximately 7 em long that extended from the left lateral fornix to the posterior fornix was found. There were a few more superficial vaginal lacerations. The tear was sutured with single stitches of 1-0 catgut.
Key words: Nonimmune hydrops fetalis, congenital myotonic dystrophy Various maternal and fetal conditions are associated with nonimmune hydrops fetalis. Failure to identify a causative agent remains a frequent dilemma because up to 30% of cases are called "idiopathic." Congenital myotonic dystrophy is an autosomaldominant muscle disorder that is rarely included among conditions associated with nonimmune hydrops fetalis. This report describes a case of congenital myotonic dystrophy presenting as fetal hydrops.
Case report A 2760 gm, female infant was born at 36 weeks' gestation to a 33-year-old multigravid mother with type A, Rh-positive blood. The mother had a history of slowly progressive lower-extremity weakness for the past few years. There was no family history of neuromuscular diseases. Previous pregnancies were uneventful and resulted in two healthy male children. The current pregnancy was complicated by worsening muscle weakness and progressive third-trimester polyhydramnios. The infant was delivered by cesarean section because of breech presentation. Post partum the mother had respiratory failure and required mechanical ventilation for a few days. The infant had Apgar scores of 2 and 5 at 1 and 5 minutes. Immediate resuscitation was required with intubation for poor respiratory effort. The infant remained severely hypotonic and continued to require mechanical ventilation. Generalized body edema was seen more extensively over the head and neck area. A "tented-shape" mouth was noted. Chest radiography revealed a right-sided pleural effusion and thin gracile ribs. Extensive scalp hematoma with no evidence of blood dyscrasia developed in the second week of life. Subsequently, edema
From the Departments of Neonatology and Obstetrics and Gynecology, Francis Scott Key Medical Center, The Johns Hopkins University. Received for publication June 25, 1991; revised October 9, 1991; accepted November 15,1991. Reprint requests: Ashraf Afifi, MD, Instructor in Pediatrics, Johns Hopkins University, Neonatology Division, Francis Scott Key Medical Center, 4940 Eastern Ave., Baltimore, MD 21224. 611135042
and pleural effusion resolved and she was weaned from mechanical ventilatory support by 3 weeks of age. Her initial feeding difficulty slowly improved and she was feeding normally by the time of discharge home at 2 months of age. The infant's blood type was A, Rh-positive and Coombs test negative. Karyotype was normal. A workup for congenital infection (TORCH [toxoplasmosis, rubella, cytomegalovirus, and herpes simplex] and parvovirus) was negative. Urine and serum screen for metabolic diseases gave normal results. The serum creatine phosphokinase level was within the normal range. Initial chest sonogram showed a right pleural effusion and a poorly moving and elevated right hemidiaphragm. The diagnosis of congenital muscular dystrophy was suspected by the characteristic maternal myopathic facies and myotonic grip. The mother's diagnosis was confirmed by neurologic consultation and abnormal results of electromyographic studies.
Comment Congenital myotonic dystrophy is rarely listed among the conditions associated with nonimmune hydrops fetalis. One recent study mentioned one case among 900 patients with nonimmune hydrops fetalis.' However, in the pediatric literature we could identify at least 10 cases of congenital myotonic dystrophy with hydropic features. 2.' Pregnancy with an affected infant is often complicated by polyhydramnios, decreased fetal activity, breech presentation, and prematurity. A spectrum of neonatal presentations with congenital myotonic dystrophy may range from the fetus who is lost in early abortion, through the preterm baby who dies soon after birth, to the term asymptomatic infant. Early neonatal diagnosis of congenital myotonic dystrophy is difficult and many affected infants may die early in life before the diagnosis can be made. In addition, clinical presentation is variable and nonspecific, and severely affected babies can be misdiagnosed as having perinatal asphyxia. Congenital myotonic dystrophy is a challenging di-
929
Afifi, Bhatia, and Eyal
agnosis that can be suggested by careful clinical evaluation of the mother and her newborn. In fully expressed disease the mother has a characteristic myopathic facies with hollow temples and myotonic grip. On the other hand, the mother may be so mildly affected that she is unaware of the disease. A negative family history does not rule out the possibility. Both muscle biopsy and electromyography give only suggestive evidence, and necropsy examination is nonspecific. Recently, localization of the congenital myotonic dystrophy gene on chromosome 19 with tightly linked deoxyribonucleic acid probes has facilitated prenatal diagnosis. Awareness of the association between congenital myotonic dystrophy and nonimmune hydrops fetalis is
March 1992
Am J Obstet Gynecol
important to reduce further the proportion of idiopathic nonimmune hydrops fetalis because congenital myotonic dystrophy might be a more frequent etiologic factor than previously thought. REFERENCES 1. Jauniaux E, Van Maldergem L, De Munter C, Moscoso G, Gillerot Y. Nonimmune hydrops fetalis associated with genetic abnormalities. Obstet Gynecol 1990;75:568-72. 2. Curry GjR, Chopra D, Finer NN. Hydrops and pleural effusions in congenital myotonic dystrophy. J Pediatr 1988;113:555-7. 3. Sarnat HB, O'Conor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonates. Arch Neurol 1976;33:459-65. 4. Harper PS. Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child 1975;50:505-13.
Vaginal injury resulting from sliding down a water chute Jacob Niv, MD, Joseph B. Lessing, MD, Joseph Hartuv, MD, and M. Reuben Peyser, MD Tel Aviv, Israel A 27-year-old woman was admitted to the hospital because of profuse vaginal bleeding from a vaginal laceration caused by the impact of water to the perineum after sliding down a water chute. At the time of the aCCident the patient was using a vaginal tampon. The potential mechanism for this trauma is discussed. (AM J OBSTET GVNECOL 1992;166:930-1.)
Key words: Vaginal trauma, water chute
A case of profuse vaginal bleeding caused by a slide down a water chute is described. Case report A 27-year-old healthy woman, gravida I, para 1, was initially seen at the emergency department with massive vaginal bleeding after trauma to the lower back and vulva. This occurred when she hit the water after sliding down a water chute. On admission the patient was conscious, pale, and had tachycardia to 120 beats/min. From the Department of Obstetrics and Gynecology "A," Tel-Aviv Sourasky Medical Center, Hakirya Maternity Hospital, Sackler Faculty of Medicine, Tel-Aviv University. Received for publication August 20, 1991,- revised October 17, 1991,accepted October 31, 1991. Reprint requests: Reuben M. Peyser, MD, Department of Obstetrics and Gynecology "A," Serlin Maternity Hospital, Hakirya, P.O. Box 7079, Tel Aviv 67441, Israel. 6/1134750 930
General examination revealed no special pathologic condition. The abdomen was soft without tenderness or guarding, but there was severe vaginal bleeding, tenderness, and swelling in the sacral area and the vulva. The patient advised that because she had been due to menstruate she had inserted a tampon that was present at the accident. However, she had removed the tampon before arriving at the hospital. On arrival in the emergency room, an intravenous line was established with lactated Ringer's solution. Hemoglobin count was 12 gm / dl, and hematocrit was 34 %. After the vagina was cleared of clots, the source of the bleeding was discovered to be a crescent-shaped laceration high in the left fornix. The patient was immediately transferred to the operating room and given a general anesthetic. A vaginal tear approximately 7 em long that extended from the left lateral fornix to the posterior fornix was found. There were a few more superficial vaginal lacerations. The tear was sutured with single stitches of 1-0 catgut.
