Isolated torsion of the fallopian tube without an ovarian abnormality is an uncommon clinical finding even rarer before menarche and postmenopause, with an incidence of approximately 1 in 1.5 million women. Left fallopian tube torsion is infrequent as compared to right. Here, we report a rare case of a prepubertal girl who presented with acute left abdominal pain. Ultrasound suggested normal ovaries, and a significant left hydrosalpinx and color-Doppler was done, which confirmed signs of left-sided fallopian tube torsion. On laparoscopy, her left fallopian tube was twisted around its axis five times with the signs of necrosis, a laparoscopic salpingectomy was performed. Laparoscopy is the gold standard for the diagnosis and management of this condition. A high index of suspicion is necessary to make an early diagnosis allowing conservative surgical management and hence fertility preservation.
Congenital encephalocele is a neural tube defect which is caused by an embryonic development abnormality. It is characterized by a sac-like protrusion of the brain, meninges and other intracranial structures through the skull. 75% of encephalocoeles are occipital. Pre-natal screening is very essential for timely recognition of the condition. At the same time, proper intake of folic acid in the first few weeks of pregnancy may reduce the occurrence of this form of NTD. The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). A favorable surgical outcome generally follows an accurate strategy taking into account individual features of the lesion. A Caesarian delivery may be considered to allow for less traumatic birth for the fetal head. Here we present a case of a foetus with posterior meningoencephalocoele diagnosed antenatally at 32 weeks of pregnancy. Patient was delivered by elective Cesearian section. The encephalocoele was resected and the defect was closed primarily. The baby was well on the regular follow-up at the neurosurgery outpatient department.
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. We present a rare case of a pregnancy with a history of congenitally malformed fetuses. This is the 8th prenatally diagnosed case and the first in our department. The couple were both heterozygous carriers for a gene mutation causing DDSH. Invasive testing was performed for the ongoing pregnancy to check for the same gene mutation in the fetus. The fetus, now diagnosed as a carrier of the mutation was a boon to the distressed couple. Prenatal diagnosis is important in this type of lethal Dyssegmental Dysplasias to help make an informed decision and accordingly plan future pregnancy. Fetopathological examination and skeletal radiographs are mandatory in order to establish a precise diagnosis. With advances in genetic tests and the availability of specific newer tests, we can provide appropriate genetic counseling for a better pregnancy outcome.
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