Newborn with dysmorphic signs, small palpebral fissure, abnormal implantation of the thumb of her left hand, respiratory distress syndrome, tachypnoea, and cyanosis.
This is the second pregnancy of healthy 27 year old mother. The pregnancy was uneventful until the third trimester, when polyhydramnios and intrauterine growth retardation were detected by antenatal ultrasound. The child was born by uncomplicated delivery at 37 weeks of gestation. Apgar scores were 6 and 8. Birth weight: 1730 g. Ambu-bag resuscitation was necessary. Physical examination showed dysmorphic signs, including: small palpebral fissure and abnormal implantation of the thumb of her left hand, along with respiratory distress syndrome, tachypnoea, cyanosis, copious secretions, and a scaphoid abdomen.
Chest radiography was performed soon after birth.


What is the possible diagnosis in this patient?


ANSWER

Xray shows Nasogastric tube projected onto the proximal oesophagus and absence of gastrointestinal air. There is a widespread pattern of granular increased density in the lungs, with effacement of the cardiac borders, consistent with respiratory distress.

Oesophageal atresia and tracheo-oesophageal fistula is a complex of congenital anomalies characterised by incomplete formation of the tubular oesophagus.
Different types of oesophageal atresia are identified on the basis of the presence (and location) or absence of a tracheo-oesophageal fistula.
- Type A: atresia without fistula (8%)
- Type B: atresia with proximal fistula (1%)
- Type C: atresia with distal fistula (80%)
- Type D: atresia with proximal and distal fistulae (1%)
- Type E: fistula without atresia (4%)
About half the children have other associated malformations and the VACTERL complex (Vertebral disorders, Ano-rectal malformations, Cardiovascular anomalies, Tracheo-oesophageal fistula, Radial/Renal dysplasia, Limb defects) is the best known group of anomalies associated with oesophageal atresia.
Typical clinical findings are failure to successfully pass a catheter into the stomach, regurgitation, inability to swallow saliva or milk, aspiration, respiratory distress, aspiration pneumonia.
Radiologic diagnosis is based on findings at anteroposterior and lateral chest radiography wich reveals a blind pouch of the proximal oesophagus, distended with air. adiographic evaluation should always include the abdomen to asses the presence of air in the gastrointestinal tract (distal fistula). In types A and B there is complete absence of gas in the stomach and intestinal tract; in types C and D, the gastrointestinal tract usually appears distended with air.
The type of oesophageal atresia is confirmed by advancing a radiopaque feeding tube from the nose to the level of the atresia. The tube will curl when it approaches the blind end. Rigid bronchoscopy is performed to confirm the anatomy, to evaluate for a proximal fistula and to control the distal fistula.
During pregnancy, oesophageal atresia may be suggested by the presence of a combination of polyhydramnios.

Answer - Type A Oesophageal atresia : atresia without fistula

A 52 year old woman, affected by the anti-phospholipid syndrome (APS), and subjected to dialysis because of right shrunken kidney and left nephrectomy, came to our attention for complaints of generalized abdominal pain and frequent episodes of diarrhoea.
Her medical history included coagulation disorders, thromboembolic events, and positioning of aorto-superior mesenteric, left aorto-renal and aorto-bi-iliac prostheses.
Two months earlier, the patient developed an obstruction of aorto-superior mesenteric bypass with distal revascularization by collateral vessels stemming from gastroduodenal artery and severe subocclusive stenosis of left aorto-renal bypass. After left renal revascularization, nephrectomy was carried out owing to acute intraparenchymal bleeding.
Following the onset of abdominal symptoms erect Xray of the abdomen and CT scan were done.



One week later Abdominal CT scan and thoracic CT were done.



What is the most likely diagnosis in this patient?

ANSWER

Plain abdominal X-ray showed gastric distension, with evident gas-fluid levels in the small bowel area, while the colonic frame was empty.CT scan confirmed the above findings, showing diffuse fluid distension of small bowel loops, with multiple gas-fluid levels.
CT scans taken after One week later showed: an inhomogeneous hypodense area located just below the diaphragm and characterized by indistinct margins and dilatation of intrahepatic bile-ducts, suggestive of hepatic abscess. Moreover, a thoracic CT scan revealed a consolidation area within the lower lobe of right lung in association with scissural thickening.

Ischemic small bowel infarction in APS.

APS is an autoimmune disorder, characterized by association of arterial/venous thrombosis or recurrent pregnancy loss with positivity in at least one of the laboratory tests employed to detect anti-phospholipid (aPL) antibodies, including lupus anticoagulant (LA), anti-cardiolipin (aCL) and anti-B2-glycoprotein I (aB-2GPI) antibodies.
Clinical spectrum of APS range from an increased risk of thromboembolic events, including peripheral thrombophlebitis, pulmonary thromboembolism, stroke, retinal artery occlusion, Devic’s syndrome, myocardial infarction, placental thrombosis, Budd syndrome, skin and gastrointestinal disturbances.

A 69-year-old asymptomatic woman with prior nephrectomy came for routine follow-up to a nephrology clinic. The patient had undergone a radical nephrectomy in 1992 for stage I right renal cell carcinoma (RCC). On her examination, she was found to have a small non-tender palpable lump in the epigastric region. Computed Tomography (CT) of the abdomen was performed.
What are the abnormalities in this Contrast enhanced axial CT and what is your diagnosis?

ANSWER

Renal cell carcinoma with pancreatic metastases

The right kidney is removed. Multiple avidly enhancing nodular lesions in the pancreas can be noted.

About one third of patients with RCC have metastases at presentation and another third develop widespread metastatic disease following nephrectomy. Late metastases after months to years following resection of the primary tumour have been documented. Lungs, bones, and contralateral kidney are common sites for distant metastases from RCC.
Metastases to pancreas are relatively rare and account for 2% of malignant masses of the pancreas.The primary malignancies metastasising to the pancreas originate most commonly from lung, colon, breast and kidney.

65 years old male presented with confusion and irregular small pupils that react to near objects, but not to light.Further neurological examination revealed ataxic wide-based gait and foot slap, areflexia and loss of position.



What is the probable diagnosis?

ANSWER

Tertiary Syphilis,Gumma in Bone and Symptoms suggestive of Argyll-Robertson pupil and Tabes dorsalis, also known as locomotor ataxia
There is an irregular lytic area in the left frontal bone, which variably involves the whole thickness of the vault. The process seems to have extended down the coronal suture into the anterior part of sphenoid. Compare with normal diploic vessels. Otherwise vault markings are normal without any increase in vascular markings. The dorsum sellae appears intact.

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