The paired Mullerian or paramesonephric ducts fuse between 6 and 11 weeks of gestation to form uterus, cervix and upper two-thirds of vagina. Mullerian duct anomalies (MDA) result from disruption in any of the three stages of uterine development, i.e. organogenesis, fusion or septal resorption. 1 Ovaries develop from primordial germ cells, while lower one-third of vagina develops from sinovaginal bulb. Owing to the different embryological origins, ovaries and lower third of vagina are not involved in MDA. 2 The prevalence of MDA is reported to be 1-5%. 2 American Fertility Society (AFS), has classified MDA into seven basic types, from Type I to Type VII. 3 Out of these seven types, Type I MDA also called as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, which reportedly accounts for nearly 15% of total case load. 2 MRKH syndrome is characterized by complete/partial agenesis of uterus and upper two-thirds of vagina, with normal bilateral ovaries,
Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the developmental neurological defects and therefore this entity remains relatively under - highlighted in radiology literature. We report and highlight the role of imaging in diagnosis of Crouzon syndrome in two patients, and discuss the relevant differential diagnosis. Moreover, our report is among the few Indian studies in which Crouzon syndrome was confirmed by genetic studies. The classical clinical triad of Crouzon syndrome was observed in both patients. The skull radiographs and cranial CT with 3D reconstruction VRT (Volume rendered technique), revealed characteristic radiological features. Genetic studies reconfirmed the clinical and radiological diagnosis of Crouzon syndrome, in both patients.
Malformations involving the brainstem are very rare and present with a varied spectrum of clinical symptoms due to multiple cranial nerve palsies and pyramidal tract involvement. Of these, pontine tegmental cap dysplasia is a very unusual malformation, characterized by ventral pons hypoplasia and an ectopic dorsal band of tissue, projecting into the fourth ventricle, from dorsal pontine tegmentum. A 4-year-old male child, presenting with left facial nerve palsy, revealed hypoplastic ventral pons and an ectopic structure on magnetic resonance imaging (MRI). The ectopic structure was isointense to pons, arose from the left side of dorsal pontine tegmentum, at pontomedullary junction and protruded into the fourth ventricle, impinging upon the left seventh and eighth cranial nerves. Diffusion tensor imaging (DTI) depicted abnormal white matter tracts in ectopic tissue with absent transverse pontine fibres and abnormal middle and superior cerebellar peduncles. The typical MRI appearance, coupled with DTI, helped us reach an accurate diagnosis of pontine tegmental cap dysplasia, in a setting of neurological dysfunction.
Anomalous osseous limb is a rare entity and its association with spinal dysraphism is all the more rarer. We report one such case of lipomyelomeningocele in 1-month-old female, with associated anomalous osseous structure/ limb in relation to iliac bones. Various investigators in the past, though, have published association of anomalous osseous limb with lipomyelomeningocele, the uniqueness of our report lies in documenting such an anomaly at this early age, with paucity of literature in this young age, to the best of our knowledge.
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