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CASE REPORTS
Thanatophoric Dysplasia
Ashok Kumar Shukla, Poornima Ranka, Asha R Dalal
Twenty five years old married primigravida unregistered presented with 5ma with dyspnoea USG showing polyhydramnios with thanatophoric dysplasia. The patient was induced. The baby showed classical features of thanatophoric dysplasia.
INTRODUCTION
Thanatophoric dysplasia is a lethal neonatal dysplasia. The mode of inheritance is a autosomal dominant mutation. The genetic defect is located on chromosome 4p16. Most cases of thanatophoric dysplasia are diagnosed by ultrasound during second and third trimester of pregnancy. Although the literature documents several reports of survival into the childhood, thanatophoric dysplasia virtually always is lethal in the neonatal period. Respiratory insufficiency secondary to reduced thoracic capacity or compression of the brainstem leads to death.
CASE REPORT
Mrs RV 25 years old married primigravida unregistered came to OPD with 7 months amenorrhoea with dyspnoea since 5 days. Last menstrual period was not known. No other past significant medical or surgical illness. Patient was admitted and investigated.
On examination her general condition was fair, P:92/min, BP 120/80 mmHg, RS/CVS:no abnormality detected, Per abdomen:34 wks cephalic presentation, FHS+, clinically polyhydramnios, Per vaginal examination:os closed posterior, no leak, ulcers were seen over the labia ?herpes. She was VDRL:1:16+ve and HIG+ve.
USG showed single live intrauterine pregnancy in variable presentation, Amniotic fluid index was 30, BPD-32w3d, FL-17w4d, AC-26w2d, expected foetal weight 2 kgs severe micromelia involving all the segments of limbs, narrow thorax, hypoplastic lungs (Figs. 1 and 2). All the findings were suggestive of lethal foetal dysplasia. Differential diagnosis of 1) Thanatophoric dysplasia, 2) Achondrogenesis.
A dermatologist's opinion was taken for labial ulcers impression was herpes progenitalis for which she was started on Tab. Acivir, Condys compression, Inj. Penidura.
After discussion with Neonatologist, in view of ultrasound showing lethal dysplasia guarded prognosis was given. Patient and relatives were explained. They opted for termination of the pregnancy.
Patient was induced with prostaglandin gel on 23.12.01. She went in labour and delivered on 25.12.2001. Placenta and membranes got expelled completely and spontaneously. Baby showed severe growth deficiency, narrow thorax with small ribs, micromelic limbs, and protuberant abdomen (Figs. 3,4,5).
X-ray (Babygram) AP view: narrow chest, short ribs, cup shaped costochondral junctions (Fig. 6). All the long bones are short with preferential involvement of the proximal segments (femur, humerus). Lower limbs show short and bowed long bones, having the shape of a “French telephone receiver”. Based on the clinical and radiological features, the diagnosis of thanatophoric dysplasia was made. Patient refused for histopathological examination.
DISCUSSION
Thanatophoric dysplasia (Death bringing) is a type of skeletal dysplasia. It is a rare entity and diagnosis is established by a second level ultrasound. Its frequency has been described from 1.7 to 3.8 per 100,000 births.1 Respiratory insufficiency secondary to reduced thoracic capacity or compression of the brainstem leads to death. Thanatophoric dysplasia is an autosomal dominant disorder from sporadic de novo mutations in the fibroblast growth factor receptor 3.2 Prenatal diagnosis can be made by ultrasound in the second or third trimester.3 3D ultrasound helps to detect it earlier.4
REFERENCES
1. Baker KM, Olson DS, Harding CO. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997; 70 (4) : 427-36.
2. Tavornima PL, Shaiang R. Thanatophoric dysplasia (type 1 and type 2) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995; 9 (3) : 321-8.
3. Tretter AE, Saunders RC. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 1998;17; 75 (5) : 518-22.
4. Garjian KV, Pretoriu DH. Foetal skeletal dysplasia: three-dimensial USG-Initial experience. Radiology 2000; 214 (3) : 717-23.
FREQUENT VENTRICULAR ECTOPY AFTER EXERCISE AS PREDICTOR OF DEATH
Exercise-induced ventricular ectopy is known to be associated with an increased risk of death. In this study of more than 29,000 subjects, frequent ventricular ectopy that occurred during the recovery period after the cessation of exercise was a better predictor of the five-year risk of death than frequent ventricular ectopy during exercise.
The important clinical implication is that exercise testing should include careful cardic monitoring during the recovery period. Information about ventricular arrhythmia after exercise is useful in risk stratification.
N Engl J Med, February, 2003; 348 : 775.
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