Finding its place on the spectrum of pituitary duplication disorders, duplication of pituitary stalk: A case report with brief review of literature.

Pituitary gland duplication is a rare abnormality and isolated duplication of the pituitary stalk without any pituitary anomaly is an even rarer entity with this case being the first documented case till date. Although incidentally discovered cases of duplication of pituitary gland (DPG) have been reported, sometimes with a duplicated pituitary stalk, patients with this disorder usually present with other craniofacial abnormalities. Consequently, DPG plus syndrome is used as it is often accompanied by endocrine disturbances and pathologies such as median cleft face syndrome, ocular disorders, craniocervical bony abnormalities, vascular anomalies and tuberomammillary masses. Since this is the first reported case without any additional pituitary gland anomaly, we propose the acronym DPS (duplication of pituitary stalk) to be used to unify this entity as we are certain that much like the previously described pituitary duplication disorders, more cases will be documented independently rather than under the umbrella of pituitary duplication disorders. This is critical as the life expectancy (age of diagnosis) in the cases reviewed in our study is as good as normal population with no obvious increase in mortality as compared to existing pituitary duplication syndromes. We present a case report of a 2 year 7 month old girl who was referred by the paediatrician for evaluation of premature thelarche. The duplication of the pituitary stalk along with mega cisterna magna and tuberomammillary fusion was the only positive finding on imaging with the pituitary gland being absolutely normal.

Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress.

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. Early diagnosis is needed for timely management and favorable outcome. We present a case of neonatal JS with renal involvement presenting with respiratory distress and highlight the characteristic clinical and imaging findings. On examination, the baby had low set ears, a large protruding tongue, hypertelorism, and a depressed nasal bridge. Ultrasonography (USG) abdomen showed echogenic kidneys with cortical and medullary cysts. Magnetic Resonance Imaging (MRI) brain showed classical molar tooth sign, vermian hypoplasia-dysplasia, and thinning of the corpus callosum.

Case Report- A rare case of giant hyperplastic polyp.

Giant gastric hyperplastic polyps are the most common benign epithelial tumors in the stomach. These are non-neoplastic epithelial proliferations of the stomach which are strongly associated with inflammatory conditions like chronic gastritis, helicobacter pylori gastritis, reactive or chemical gastritis. A 60 years old gentleman presented with history of two bouts of hematemesis preceded by multiple intermittent episodes of epigastric pain, nausea and few episodes of non-bilious vomiting without any history of previous gastrointestinal bleed, loss of appetite or significant weight loss. Work up with ultrasonography of abdomen, upper gastrointestinal endoscopy, contrast enhanced computed tomography abdomen, laboratory investigations followed by biopsy and histopathology was done which confirmed the diagnosis. Giant hyperplastic polyps are benign epithelial tumor of stomach often resulting from excessive regenerative hyperplasia in areas of chronic inflammation with no site predilection and nearly no malignant potential. Usually asymptomatic, these are incidentally detected on upper gastrointestinal endoscopy with characteristic appearance of such polyps on double contrast barium study followed by upper gastrointestinal endoscopy and biopsy is definitive for diagnosis.