F. Ovali  ( Istanbul University, Istanbul Faculty of Medicine, Department of Obstetrics and Gynecology, NeonatalUnit, Capa, Istanbul, Turkey. )
N. Samanci  ( Istanbul University, Istanbul Faculty of Medicine, Department of Obstetrics and Gynecology, NeonatalUnit, Capa, Istanbul, Turkey. )
N. Demir  ( Istanbul University, Istanbul Faculty of Medicine, Department of Obstetrics and Gynecology, NeonatalUnit, Capa, Istanbul, Turkey. )
T. Dagoglu  ( Istanbul University, Istanbul Faculty of Medicine, Department of Obstetrics and Gynecology, NeonatalUnit, Capa, Istanbul, Turkey. )

Congenital myotonic dystrophy is a rare autosomal dominant disease, which begins to show its symptoms in the intrauterine period and differs significantly from myotonic dystrophy of adults. The major feature differentiating it from the adult type is hypotonia, instead of myotonia. It was first discribed by Vanier in 1960. The diagnosis is quite easy if there is an index case in the family. The surviving babies are usually mentally retarded in later life. We present a family and their latest offspring with myotonic dystrophy, and discuss issues relevant to the disease.

Case Report

This baby girl was born through vaginal delivery to a non-consanginous 40 year old mother, as her 6th child, after 39 weeks of gestation. Her birthweight was 2150g and her length was 48 cm. The pregnancy of the mother was remarkable for polyhydramnios. On her first physical examination, profound hypotonia, tent-shaped upper lip, bilateral ptosis of the eyelids and retrognathia were noticed (Figure 1). She did not have any findings compatible with arthrogyriposis. Starting immediately after birth, moderate respiratory distress and intercostal retractions were evident. However, arterial blood gases were within acceptable limits and peripheral oxygen saturation as measured by pulse oximeter was in the range of 90-95%. On her chest x-ray, both diaphragms were elevated, decreasing the expansion space of the lungs. However, the aeration of the lungs were satisfactory. (Figure 2). She was given free oxygen by hood and recovered within 2 days, after which she was started on oral feeding. From the 3rd to 6th days, she had moderate feeding difficultly with gastric desiduals, but recovered from the 7th day onwards and on the 12th day of life, she was feeding completely on breast milk by oral route. A cranial ultrasonography was found to be normal. Family history revealed that her mother had myotonic findings. The baby had 2 brothers and a sister with similar findings at birth. Therefore PCR and Southern blot test was performed on her DNA, obtained from peripheral blood. The test confirmed that she had an allele with more than 1600 CTG repeats on chromosome 19q13.3. Her mother was found to be homozygous for this disease and the number of CTG repeats in the mother was 300. After the mother was diagnosed as a carrier of the disease, all of her offsprings were screened and the diagnoses reached. One of her brothers and one sister, 16 and 20 years old respectively, were mentally retarded, and the number of CTG repeats in each of them were 470. One of her sisters and one of her brothers had died at the age of 3 months and 1 day. One of her brothers, who was 14 years old, was seemingly normal, but he had a shorter allele with 58 repeats. He is expected to manifest the disease later in life. The baby was discharged on the 10th day of life. Although the importance of follow-up was emphasized, the family was lost to follow-up.

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Penile Mondor's disease is better known as superficial thrombophlebitis of the penis. It is an uncommon benign disease of the dorsal vein of the penis and in majority of the cases the etiology is unkonw. Over the last four decades various authors have proposed some new etiologies,although direct and indirect trauma are known as causative factors.6,7 Sexual intercourse trauma is considered as the main etiologic factor.5,8,9 This may be due to stretching and torsion of the penile veins causing endothelial necroses, which initiates the release of thromboplastic substances that activate the coagulation cascade.6 Such endothelial denudation also facilitates platelet adhesion to the exposed collagen and basement membrane component thus forming a nidus for further thrombus formation. The clinical presentation is usually redness and swelling of the dorsum of the penis accompanied by palpable tender thrombotic vein of the penis.10 This acute and painful disease frightens the patient who is concerned about his fertility and sexual function.9,11 So a proper diagnoses and consequent reassurance can help to dissipate anxiety of the patient with the disease.
Doppler ultrasound is useful both in the diagnosis and follow up of these patients to visualize resolution of the thrombus and restoration of normal blood flow during and after treatment.8,9,12,13 In minor cases usually no treatment apart from observation is required. Anti-inflammatory drugs such as Salicylates, Indomethacin and Ibuprofen, used as anti-inflammatory agents have been reported to be effective.8,13-19 These drugs reduce the pain and recovery period. In cases of infection antibiotics must be used. The resolution of the thrombus usually occurs uneventfully within four to six weeks. It is also important the patient should avoid sexual intercourse and masturbation during medical treatment to help healing. In persistent cases either penile vein resection or thrombectomy is recommended6,8, as one of our patients who did not respond to drug therapy, underwent surgery, i.e., dorsal vein resection. Surgery in this type of cases relieves pain and diminishes skin induration and produces aesthetically good results. In the literature and in our own cases there is no report of erectile dysfunction or penile deformity after treatment.
We conclude that Mondor's disease of the penis is a benign, self-limited condition. Anti-inflammatory agents are used for acute discomfort. When indicated vein resection is successful.
Penile Mondor's disease is better known as superficial thrombophlebitis of the penis. It is an uncommon benign disease of the dorsal vein of the penis and in majority of the cases the etiology is unkonw. Over the last four decades various authors have proposed some new etiologies,although direct and indirect trauma are known as causative factors.6,7 Sexual intercourse trauma is considered as the main etiologic factor.5,8,9 This may be due to stretching and torsion of the penile veins causing endothelial necroses, which initiates the release of thromboplastic substances that activate the coagulation cascade.6 Such endothelial denudation also facilitates platelet adhesion to the exposed collagen and basement membrane component thus forming a nidus for further thrombus formation. The clinical presentation is usually redness and swelling of the dorsum of the penis accompanied by palpable tender thrombotic vein of the penis.10 This acute and painful disease frightens the patient who is concerned about his fertility and sexual function.9,11 So a proper diagnoses and consequent reassurance can help to dissipate anxiety of the patient with the disease.
Doppler ultrasound is useful both in the diagnosis and follow up of these patients to visualize resolution of the thrombus and restoration of normal blood flow during and after treatment.8,9,12,13 In minor cases usually no treatment apart from observation is required. Anti-inflammatory drugs such as Salicylates, Indomethacin and Ibuprofen, used as anti-inflammatory agents have been reported to be effective.8,13-19 These drugs reduce the pain and recovery period. In cases of infection antibiotics must be used. The resolution of the thrombus usually occurs uneventfully within four to six weeks. It is also important the patient should avoid sexual intercourse and masturbation during medical treatment to help healing. In persistent cases either penile vein resection or thrombectomy is recommended6,8, as one of our patients who did not respond to drug therapy, underwent surgery, i.e., dorsal vein resection. Surgery in this type of cases relieves pain and diminishes skin induration and produces aesthetically good results. In the literature and in our own cases there is no report of erectile dysfunction or penile deformity after treatment.
We conclude that Mondor's disease of the penis is a benign, self-limited condition. Anti-inflammatory agents are used for acute discomfort. When indicated vein resection is successful.

1. Volpe JJ. Neuromuscular disorders: Muscle involvement and restricted disorders. In: Neurology of the Newborn. 4th edition. Philadelphia: W.B. Saunders, 2000, pp. 671-714.

2. Dunn LJ, Diereker LI. Recurrent hydramnios in association with mytonia dystrophica. Obstet Gynecol 1973; 42: 104-6.

3. Hageman A, Gabreels F, Liem KD et al. Congenital myotonic dystrophy: a report on 13 cases and a review of the literature. J Neurol Sci 1993;115: 95-101.

4. Kuntz NL. Clinical and electrophysiological profile of congenital myotonic dystrophy. Ann Neurol 1984; 19: 931-4.

5. Regev R, de Vries LS, Heckmatt JZ, et al. Cerebral ventricular dilation in congenital myotonic dystrophy. J Pediatr 1987; 111: 372-6.

6. Roig M, Balliu PR, Navarro C et al. Presentation, clinical course and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 1994; 11: 208-13.

7. Martorell L, Illa I, Arosell J,. et al. Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. J Med Genet 1996; 33: 783-5.

8. Ptacek LJ, Johnson KJ, Griggs RC. Mechanisms of disease: genetics and physiology of the myotonic muscle disorders. N Eng J Med 1993; 328: 482-9 9. O'Brien TA, Harper TS. Course, prognosis and complications of childhood-onset myotonic dystrophy. Dev Med Child Neurol 1984; 26: 62-7.